Incidental Mutation 'R0242:Col14a1'
| ID |
59596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
038480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55307750-55520803 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55497511 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1605
(R1605W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
| AlphaFold |
Q80X19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023053
AA Change: R1608W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: R1608W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
818 |
6.2e-7 |
SMART |
|
FN3
|
830 |
909 |
1.45e-7 |
SMART |
|
FN3
|
920 |
999 |
3.59e0 |
SMART |
|
low complexity region
|
1010 |
1022 |
N/A |
INTRINSIC |
|
VWA
|
1031 |
1211 |
2.02e-59 |
SMART |
|
TSPN
|
1230 |
1425 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1461 |
1515 |
2.9e-8 |
PFAM |
|
Pfam:Collagen
|
1513 |
1571 |
6.3e-9 |
PFAM |
|
Pfam:Collagen
|
1555 |
1615 |
8.5e-10 |
PFAM |
|
Pfam:Collagen
|
1653 |
1709 |
7.6e-10 |
PFAM |
|
Pfam:Collagen
|
1707 |
1762 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110217
AA Change: R1609W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: R1609W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
819 |
5.4e-7 |
SMART |
|
FN3
|
831 |
910 |
1.45e-7 |
SMART |
|
FN3
|
921 |
1000 |
3.59e0 |
SMART |
|
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
|
VWA
|
1032 |
1212 |
2.02e-59 |
SMART |
|
TSPN
|
1231 |
1426 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1462 |
1516 |
2.5e-8 |
PFAM |
|
Pfam:Collagen
|
1514 |
1572 |
5.4e-9 |
PFAM |
|
Pfam:Collagen
|
1556 |
1616 |
7.3e-10 |
PFAM |
|
Pfam:Collagen
|
1654 |
1710 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110221
AA Change: R1605W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: R1605W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
815 |
7.12e-7 |
SMART |
|
FN3
|
827 |
906 |
1.45e-7 |
SMART |
|
FN3
|
917 |
996 |
3.59e0 |
SMART |
|
low complexity region
|
1007 |
1019 |
N/A |
INTRINSIC |
|
VWA
|
1028 |
1208 |
2.02e-59 |
SMART |
|
TSPN
|
1227 |
1422 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1458 |
1512 |
8.2e-9 |
PFAM |
|
Pfam:Collagen
|
1510 |
1568 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
1552 |
1612 |
2.4e-10 |
PFAM |
|
Pfam:Collagen
|
1650 |
1706 |
2.2e-10 |
PFAM |
|
Pfam:Collagen
|
1704 |
1759 |
7.5e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125416
AA Change: R347W
|
| SMART Domains |
Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371
AA Change: R347W
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
2 |
165 |
2.04e-42 |
SMART |
|
Pfam:Collagen
|
201 |
255 |
2.1e-9 |
PFAM |
|
Pfam:Collagen
|
253 |
305 |
3.3e-9 |
PFAM |
|
Pfam:Collagen
|
295 |
355 |
4.4e-11 |
PFAM |
|
Pfam:Collagen
|
393 |
448 |
5.7e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.4320 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (110/113) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,551,676 (GRCm38) |
D230G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 9,987,561 (GRCm38) |
I53V |
probably benign |
Het |
| Adgrl2 |
A |
C |
3: 148,839,185 (GRCm38) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 45,144,664 (GRCm38) |
A596V |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 3,979,414 (GRCm38) |
Y262* |
probably null |
Het |
| Ambn |
A |
G |
5: 88,467,972 (GRCm38) |
Q420R |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,700,344 (GRCm38) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,329,538 (GRCm38) |
H430Q |
probably benign |
Het |
| Arhgef25 |
C |
T |
10: 127,184,064 (GRCm38) |
G435E |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,532,392 (GRCm38) |
D120V |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,516,681 (GRCm38) |
E576K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,470,895 (GRCm38) |
E141G |
probably benign |
Het |
| Bmpr1b |
G |
A |
3: 141,840,676 (GRCm38) |
T483M |
probably damaging |
Het |
| Caprin2 |
C |
T |
6: 148,842,954 (GRCm38) |
S991N |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 46,071,766 (GRCm38) |
I286M |
possibly damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,180,172 (GRCm38) |
F480L |
probably benign |
Het |
| Celf5 |
T |
C |
10: 81,464,409 (GRCm38) |
T258A |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,721,657 (GRCm38) |
V577A |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,841,465 (GRCm38) |
S304P |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,095,600 (GRCm38) |
H993Q |
probably benign |
Het |
| Cnbp |
A |
T |
6: 87,845,764 (GRCm38) |
C6S |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,964,854 (GRCm38) |
N11S |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,630,178 (GRCm38) |
|
probably benign |
Het |
| Cpvl |
T |
C |
6: 53,932,500 (GRCm38) |
H217R |
possibly damaging |
Het |
| Cuedc1 |
T |
C |
11: 88,184,621 (GRCm38) |
|
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,141,925 (GRCm38) |
Y68C |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,702,451 (GRCm38) |
T1324M |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,727,562 (GRCm38) |
D268G |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,316,989 (GRCm38) |
M535L |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,962,280 (GRCm38) |
F1575Y |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,398,546 (GRCm38) |
H403L |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,649,851 (GRCm38) |
D3112G |
possibly damaging |
Het |
| Eno3 |
A |
G |
11: 70,657,935 (GRCm38) |
E21G |
probably null |
Het |
| Fam120b |
T |
A |
17: 15,422,924 (GRCm38) |
V655D |
probably damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,428,452 (GRCm38) |
D136E |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,447,653 (GRCm38) |
Y179* |
probably null |
Het |
| Gfer |
A |
G |
17: 24,694,303 (GRCm38) |
W192R |
probably damaging |
Het |
| Gm4782 |
A |
G |
6: 50,609,858 (GRCm38) |
T408A |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,875,630 (GRCm38) |
Q164* |
probably null |
Het |
| Gpnmb |
A |
G |
6: 49,047,342 (GRCm38) |
N197S |
probably damaging |
Het |
| Gtf2f1 |
G |
A |
17: 57,003,802 (GRCm38) |
T414M |
probably benign |
Het |
| Hc |
A |
G |
2: 35,036,154 (GRCm38) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 73,948,429 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
C |
T |
2: 181,230,430 (GRCm38) |
R2539Q |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 94,157,815 (GRCm38) |
I19F |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,893,750 (GRCm38) |
T172A |
unknown |
Het |
| Jmy |
A |
G |
13: 93,441,618 (GRCm38) |
Y681H |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,027,508 (GRCm38) |
T36A |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,755,699 (GRCm38) |
D267G |
probably damaging |
Het |
| Krt34 |
C |
T |
11: 100,041,331 (GRCm38) |
E56K |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,538,742 (GRCm38) |
E335D |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,476,573 (GRCm38) |
Y282* |
probably null |
Het |
| Lgi3 |
C |
T |
14: 70,534,815 (GRCm38) |
R267* |
probably null |
Het |
| Lnpk |
A |
G |
2: 74,537,289 (GRCm38) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,998,183 (GRCm38) |
H2355L |
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,235,401 (GRCm38) |
R542H |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,108,856 (GRCm38) |
Y452H |
probably damaging |
Het |
| Mmachc |
C |
T |
4: 116,704,541 (GRCm38) |
R132Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,577,486 (GRCm38) |
N356K |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,661,716 (GRCm38) |
H552R |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,718,216 (GRCm38) |
D884G |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,226,979 (GRCm38) |
V96A |
probably benign |
Het |
| Nr1d2 |
T |
A |
14: 18,211,933 (GRCm38) |
D390V |
possibly damaging |
Het |
| Oas1e |
A |
T |
5: 120,791,774 (GRCm38) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,211,516 (GRCm38) |
V786D |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,983,712 (GRCm38) |
S299G |
probably benign |
Het |
| Or6c1b |
T |
A |
10: 129,437,348 (GRCm38) |
Y179N |
probably damaging |
Het |
| Otog |
G |
T |
7: 46,267,381 (GRCm38) |
C914F |
probably damaging |
Het |
| Pank2 |
G |
T |
2: 131,280,197 (GRCm38) |
C214F |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,266,735 (GRCm38) |
S580T |
probably benign |
Het |
| Pdia3 |
T |
C |
2: 121,414,111 (GRCm38) |
S2P |
probably damaging |
Het |
| Peli1 |
G |
T |
11: 21,142,602 (GRCm38) |
R83L |
probably damaging |
Het |
| Pla2g3 |
T |
A |
11: 3,491,935 (GRCm38) |
C366* |
probably null |
Het |
| Pon3 |
T |
A |
6: 5,240,860 (GRCm38) |
D107V |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,741,091 (GRCm38) |
C532R |
probably damaging |
Het |
| Prph |
A |
T |
15: 99,055,727 (GRCm38) |
D174V |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 67,758,086 (GRCm38) |
M270T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,422,755 (GRCm38) |
|
probably benign |
Het |
| Pus1 |
A |
T |
5: 110,779,798 (GRCm38) |
H30Q |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,234,258 (GRCm38) |
S354P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 88,005,132 (GRCm38) |
V87E |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,751,708 (GRCm38) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 21,942,597 (GRCm38) |
|
probably null |
Het |
| S1pr3 |
A |
G |
13: 51,418,902 (GRCm38) |
T40A |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,143,922 (GRCm38) |
|
probably benign |
Het |
| Senp7 |
T |
A |
16: 56,179,521 (GRCm38) |
I853N |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 33,899,247 (GRCm38) |
|
probably benign |
Het |
| Shroom1 |
T |
G |
11: 53,465,485 (GRCm38) |
|
probably null |
Het |
| Slc24a3 |
T |
C |
2: 145,606,664 (GRCm38) |
I376T |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,468,667 (GRCm38) |
I375T |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,533,680 (GRCm38) |
F527S |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,541,233 (GRCm38) |
I924N |
probably damaging |
Het |
| Slx4 |
T |
A |
16: 3,986,952 (GRCm38) |
E666V |
probably damaging |
Het |
| Snrnp27 |
G |
A |
6: 86,675,593 (GRCm38) |
|
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,228,221 (GRCm38) |
G640E |
probably damaging |
Het |
| Spmap2l |
G |
T |
5: 77,016,305 (GRCm38) |
E52* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 30,018,401 (GRCm38) |
M1725L |
probably benign |
Het |
| Sync |
G |
A |
4: 129,293,721 (GRCm38) |
R182K |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,098,034 (GRCm38) |
G1586S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 133,253,457 (GRCm38) |
T522K |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,519,955 (GRCm38) |
K414* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,824,567 (GRCm38) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,503,916 (GRCm38) |
T413I |
probably benign |
Het |
| Tm9sf1 |
C |
T |
14: 55,637,935 (GRCm38) |
A451T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,826,152 (GRCm38) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 34,154,629 (GRCm38) |
I140V |
possibly damaging |
Het |
| Ushbp1 |
C |
A |
8: 71,390,118 (GRCm38) |
G361* |
probably null |
Het |
| Wbp2nl |
C |
T |
15: 82,313,787 (GRCm38) |
A175V |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,862,566 (GRCm38) |
E212G |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,768,830 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Col14a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Col14a1
|
APN |
15 |
55,411,585 (GRCm38) |
missense |
unknown |
|
|
IGL01290:Col14a1
|
APN |
15 |
55,423,507 (GRCm38) |
missense |
unknown |
|
|
IGL01300:Col14a1
|
APN |
15 |
55,467,976 (GRCm38) |
missense |
unknown |
|
|
IGL01505:Col14a1
|
APN |
15 |
55,455,223 (GRCm38) |
missense |
unknown |
|
|
IGL01533:Col14a1
|
APN |
15 |
55,420,840 (GRCm38) |
missense |
unknown |
|
|
IGL01563:Col14a1
|
APN |
15 |
55,487,941 (GRCm38) |
missense |
unknown |
|
|
IGL01650:Col14a1
|
APN |
15 |
55,406,693 (GRCm38) |
missense |
unknown |
|
|
IGL01659:Col14a1
|
APN |
15 |
55,446,172 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01670:Col14a1
|
APN |
15 |
55,329,266 (GRCm38) |
missense |
unknown |
|
|
IGL01760:Col14a1
|
APN |
15 |
55,423,459 (GRCm38) |
missense |
unknown |
|
|
IGL01803:Col14a1
|
APN |
15 |
55,418,814 (GRCm38) |
missense |
unknown |
|
|
IGL01966:Col14a1
|
APN |
15 |
55,448,725 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01990:Col14a1
|
APN |
15 |
55,363,463 (GRCm38) |
missense |
unknown |
|
|
IGL02124:Col14a1
|
APN |
15 |
55,463,703 (GRCm38) |
missense |
unknown |
|
|
IGL02138:Col14a1
|
APN |
15 |
55,420,835 (GRCm38) |
missense |
unknown |
|
|
IGL02192:Col14a1
|
APN |
15 |
55,362,402 (GRCm38) |
missense |
unknown |
|
|
IGL02326:Col14a1
|
APN |
15 |
55,418,797 (GRCm38) |
missense |
unknown |
|
|
IGL02335:Col14a1
|
APN |
15 |
55,463,769 (GRCm38) |
splice site |
probably benign |
|
|
IGL02407:Col14a1
|
APN |
15 |
55,448,876 (GRCm38) |
splice site |
probably benign |
|
|
IGL02486:Col14a1
|
APN |
15 |
55,388,696 (GRCm38) |
splice site |
probably benign |
|
|
IGL02537:Col14a1
|
APN |
15 |
55,344,914 (GRCm38) |
nonsense |
probably null |
|
|
IGL02567:Col14a1
|
APN |
15 |
55,344,961 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02643:Col14a1
|
APN |
15 |
55,420,862 (GRCm38) |
missense |
unknown |
|
|
IGL02669:Col14a1
|
APN |
15 |
55,418,782 (GRCm38) |
missense |
unknown |
|
|
IGL02673:Col14a1
|
APN |
15 |
55,418,782 (GRCm38) |
missense |
unknown |
|
|
IGL02674:Col14a1
|
APN |
15 |
55,418,782 (GRCm38) |
missense |
unknown |
|
|
IGL03201:Col14a1
|
APN |
15 |
55,408,904 (GRCm38) |
missense |
unknown |
|
|
IGL03334:Col14a1
|
APN |
15 |
55,448,821 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03370:Col14a1
|
APN |
15 |
55,488,541 (GRCm38) |
splice site |
probably null |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,410,204 (GRCm38) |
missense |
unknown |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,471,708 (GRCm38) |
missense |
unknown |
|
|
PIT4131001:Col14a1
|
UTSW |
15 |
55,448,876 (GRCm38) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,408,963 (GRCm38) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,408,963 (GRCm38) |
splice site |
probably benign |
|
|
R0173:Col14a1
|
UTSW |
15 |
55,488,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,497,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0359:Col14a1
|
UTSW |
15 |
55,407,868 (GRCm38) |
splice site |
probably benign |
|
|
R0391:Col14a1
|
UTSW |
15 |
55,446,259 (GRCm38) |
unclassified |
probably benign |
|
|
R0468:Col14a1
|
UTSW |
15 |
55,388,646 (GRCm38) |
missense |
unknown |
|
|
R0652:Col14a1
|
UTSW |
15 |
55,344,882 (GRCm38) |
missense |
unknown |
|
|
R0692:Col14a1
|
UTSW |
15 |
55,341,738 (GRCm38) |
missense |
unknown |
|
|
R0745:Col14a1
|
UTSW |
15 |
55,338,417 (GRCm38) |
missense |
unknown |
|
|
R1006:Col14a1
|
UTSW |
15 |
55,519,935 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1331:Col14a1
|
UTSW |
15 |
55,410,188 (GRCm38) |
missense |
unknown |
|
|
R1537:Col14a1
|
UTSW |
15 |
55,380,767 (GRCm38) |
missense |
unknown |
|
|
R1557:Col14a1
|
UTSW |
15 |
55,388,579 (GRCm38) |
missense |
unknown |
|
|
R1721:Col14a1
|
UTSW |
15 |
55,447,462 (GRCm38) |
unclassified |
probably benign |
|
|
R1737:Col14a1
|
UTSW |
15 |
55,344,961 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R1837:Col14a1
|
UTSW |
15 |
55,382,495 (GRCm38) |
missense |
unknown |
|
|
R1867:Col14a1
|
UTSW |
15 |
55,447,462 (GRCm38) |
unclassified |
probably benign |
|
|
R1868:Col14a1
|
UTSW |
15 |
55,447,462 (GRCm38) |
unclassified |
probably benign |
|
|
R1991:Col14a1
|
UTSW |
15 |
55,449,940 (GRCm38) |
missense |
unknown |
|
|
R2020:Col14a1
|
UTSW |
15 |
55,446,181 (GRCm38) |
unclassified |
probably benign |
|
|
R2103:Col14a1
|
UTSW |
15 |
55,449,940 (GRCm38) |
missense |
unknown |
|
|
R2116:Col14a1
|
UTSW |
15 |
55,407,764 (GRCm38) |
missense |
unknown |
|
|
R2163:Col14a1
|
UTSW |
15 |
55,444,645 (GRCm38) |
unclassified |
probably benign |
|
|
R2207:Col14a1
|
UTSW |
15 |
55,463,686 (GRCm38) |
missense |
unknown |
|
|
R2215:Col14a1
|
UTSW |
15 |
55,380,842 (GRCm38) |
missense |
unknown |
|
|
R2264:Col14a1
|
UTSW |
15 |
55,466,690 (GRCm38) |
splice site |
probably null |
|
|
R2383:Col14a1
|
UTSW |
15 |
55,447,517 (GRCm38) |
unclassified |
probably benign |
|
|
R2397:Col14a1
|
UTSW |
15 |
55,338,439 (GRCm38) |
missense |
unknown |
|
|
R2422:Col14a1
|
UTSW |
15 |
55,449,922 (GRCm38) |
missense |
unknown |
|
|
R3793:Col14a1
|
UTSW |
15 |
55,363,513 (GRCm38) |
missense |
unknown |
|
|
R4082:Col14a1
|
UTSW |
15 |
55,437,033 (GRCm38) |
missense |
unknown |
|
|
R4112:Col14a1
|
UTSW |
15 |
55,363,559 (GRCm38) |
missense |
unknown |
|
|
R4519:Col14a1
|
UTSW |
15 |
55,388,579 (GRCm38) |
missense |
unknown |
|
|
R4628:Col14a1
|
UTSW |
15 |
55,449,833 (GRCm38) |
nonsense |
probably null |
|
|
R4692:Col14a1
|
UTSW |
15 |
55,423,468 (GRCm38) |
missense |
unknown |
|
|
R4696:Col14a1
|
UTSW |
15 |
55,372,602 (GRCm38) |
missense |
unknown |
|
|
R4749:Col14a1
|
UTSW |
15 |
55,452,336 (GRCm38) |
missense |
unknown |
|
|
R5324:Col14a1
|
UTSW |
15 |
55,338,445 (GRCm38) |
missense |
unknown |
|
|
R5382:Col14a1
|
UTSW |
15 |
55,362,436 (GRCm38) |
missense |
unknown |
|
|
R5634:Col14a1
|
UTSW |
15 |
55,518,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5781:Col14a1
|
UTSW |
15 |
55,423,512 (GRCm38) |
missense |
unknown |
|
|
R5828:Col14a1
|
UTSW |
15 |
55,436,976 (GRCm38) |
missense |
unknown |
|
|
R5873:Col14a1
|
UTSW |
15 |
55,445,786 (GRCm38) |
unclassified |
probably benign |
|
|
R5966:Col14a1
|
UTSW |
15 |
55,452,383 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6106:Col14a1
|
UTSW |
15 |
55,520,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6135:Col14a1
|
UTSW |
15 |
55,380,850 (GRCm38) |
missense |
unknown |
|
|
R6319:Col14a1
|
UTSW |
15 |
55,516,169 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6475:Col14a1
|
UTSW |
15 |
55,445,822 (GRCm38) |
unclassified |
probably benign |
|
|
R6540:Col14a1
|
UTSW |
15 |
55,372,581 (GRCm38) |
missense |
unknown |
|
|
R6893:Col14a1
|
UTSW |
15 |
55,444,648 (GRCm38) |
unclassified |
probably benign |
|
|
R6992:Col14a1
|
UTSW |
15 |
55,411,562 (GRCm38) |
splice site |
probably null |
|
|
R7284:Col14a1
|
UTSW |
15 |
55,518,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7404:Col14a1
|
UTSW |
15 |
55,388,628 (GRCm38) |
nonsense |
probably null |
|
|
R7655:Col14a1
|
UTSW |
15 |
55,362,450 (GRCm38) |
missense |
unknown |
|
|
R7656:Col14a1
|
UTSW |
15 |
55,362,450 (GRCm38) |
missense |
unknown |
|
|
R7715:Col14a1
|
UTSW |
15 |
55,487,983 (GRCm38) |
missense |
unknown |
|
|
R7841:Col14a1
|
UTSW |
15 |
55,382,480 (GRCm38) |
missense |
unknown |
|
|
R7861:Col14a1
|
UTSW |
15 |
55,444,616 (GRCm38) |
missense |
unknown |
|
|
R7866:Col14a1
|
UTSW |
15 |
55,388,620 (GRCm38) |
missense |
unknown |
|
|
R7902:Col14a1
|
UTSW |
15 |
55,501,436 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8041:Col14a1
|
UTSW |
15 |
55,455,230 (GRCm38) |
missense |
unknown |
|
|
R8159:Col14a1
|
UTSW |
15 |
55,427,928 (GRCm38) |
missense |
unknown |
|
|
R8224:Col14a1
|
UTSW |
15 |
55,407,741 (GRCm38) |
missense |
unknown |
|
|
R8282:Col14a1
|
UTSW |
15 |
55,420,880 (GRCm38) |
missense |
unknown |
|
|
R8729:Col14a1
|
UTSW |
15 |
55,447,497 (GRCm38) |
nonsense |
probably null |
|
|
R8737:Col14a1
|
UTSW |
15 |
55,455,310 (GRCm38) |
nonsense |
probably null |
|
|
R8871:Col14a1
|
UTSW |
15 |
55,382,562 (GRCm38) |
missense |
unknown |
|
|
R9069:Col14a1
|
UTSW |
15 |
55,388,594 (GRCm38) |
missense |
unknown |
|
|
R9081:Col14a1
|
UTSW |
15 |
55,427,991 (GRCm38) |
missense |
unknown |
|
|
R9088:Col14a1
|
UTSW |
15 |
55,363,527 (GRCm38) |
missense |
unknown |
|
|
R9113:Col14a1
|
UTSW |
15 |
55,338,429 (GRCm38) |
missense |
unknown |
|
|
R9193:Col14a1
|
UTSW |
15 |
55,379,568 (GRCm38) |
missense |
unknown |
|
|
R9274:Col14a1
|
UTSW |
15 |
55,518,275 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9288:Col14a1
|
UTSW |
15 |
55,423,522 (GRCm38) |
missense |
unknown |
|
|
R9320:Col14a1
|
UTSW |
15 |
55,501,384 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9602:Col14a1
|
UTSW |
15 |
55,487,949 (GRCm38) |
missense |
unknown |
|
|
R9620:Col14a1
|
UTSW |
15 |
55,362,385 (GRCm38) |
missense |
unknown |
|
|
R9629:Col14a1
|
UTSW |
15 |
55,519,149 (GRCm38) |
missense |
|
|
|
X0023:Col14a1
|
UTSW |
15 |
55,423,447 (GRCm38) |
missense |
unknown |
|
|
X0063:Col14a1
|
UTSW |
15 |
55,410,215 (GRCm38) |
missense |
unknown |
|
|
Z1177:Col14a1
|
UTSW |
15 |
55,372,570 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAACGGGGTGAAGTGTGTAAATC -3'
(R):5'- GACTCAGTGGGCACCAGAATTAAGG -3'
Sequencing Primer
(F):5'- AGCTGTTCTGCACGGTG -3'
(R):5'- CTATGTCTTCAGGAAAACGAGAGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation