Incidental Mutation 'R0391:Col14a1'
| ID |
31726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
038597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0391 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 55309655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
| AlphaFold |
Q80X19 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023053
AA Change: D1149G
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: D1149G
| 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 |
unknown
Transcript: ENSMUST00000110217
AA Change: D1150G
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: D1150G
| 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 |
unknown
Transcript: ENSMUST00000110221
AA Change: D1146G
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: D1146G
| 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 |
probably benign
Transcript: ENSMUST00000125416
|
| SMART Domains |
Protein: ENSMUSP00000122455
Gene: ENSMUSG00000022371
| 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 |
0.9067 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
97% (97/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
A |
4: 122,594,970 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
G |
A |
19: 43,810,044 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
C |
G |
7: 45,771,597 (GRCm39) |
G838A |
probably damaging |
Het |
| Akr1c21 |
G |
A |
13: 4,631,199 (GRCm39) |
A245T |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,139 (GRCm39) |
E47G |
probably damaging |
Het |
| Apoa1 |
A |
G |
9: 46,141,140 (GRCm39) |
T79A |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,733,903 (GRCm39) |
H378R |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,954,588 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,969,821 (GRCm39) |
E638D |
probably benign |
Het |
| Cckar |
C |
T |
5: 53,863,595 (GRCm39) |
|
probably null |
Het |
| Cfap100 |
C |
T |
6: 90,382,321 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,970,156 (GRCm39) |
G970C |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,652,263 (GRCm39) |
V698M |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,011,473 (GRCm39) |
D156G |
possibly damaging |
Het |
| Cryl1 |
A |
G |
14: 57,541,232 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,520,969 (GRCm39) |
V1881L |
probably damaging |
Het |
| Ctnnal1 |
C |
T |
4: 56,847,921 (GRCm39) |
A73T |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,982,950 (GRCm39) |
S180P |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,613 (GRCm39) |
T123A |
possibly damaging |
Het |
| Dennd6b |
T |
C |
15: 89,071,417 (GRCm39) |
D304G |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,887,750 (GRCm39) |
|
probably benign |
Het |
| Eci1 |
G |
A |
17: 24,652,234 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,030,412 (GRCm39) |
Y115C |
probably damaging |
Het |
| Ern1 |
T |
A |
11: 106,298,004 (GRCm39) |
K706* |
probably null |
Het |
| Ghrl |
T |
C |
6: 113,696,299 (GRCm39) |
E31G |
probably damaging |
Het |
| Gpr108 |
A |
C |
17: 57,550,101 (GRCm39) |
V179G |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,865,851 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,444,011 (GRCm39) |
V69A |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,453,940 (GRCm39) |
|
probably benign |
Het |
| Il17rb |
T |
C |
14: 29,726,304 (GRCm39) |
N95D |
probably benign |
Het |
| Il17rb |
G |
T |
14: 29,728,112 (GRCm39) |
|
probably null |
Het |
| Iqub |
G |
A |
6: 24,446,154 (GRCm39) |
L757F |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,355,128 (GRCm39) |
V473A |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,131,271 (GRCm39) |
N1978H |
probably damaging |
Het |
| Klk1b26 |
T |
A |
7: 43,662,151 (GRCm39) |
F3Y |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,384,428 (GRCm39) |
V50A |
probably benign |
Het |
| Lax1 |
G |
T |
1: 133,607,804 (GRCm39) |
H312Q |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,029,596 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,287,202 (GRCm39) |
D3745V |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,290,681 (GRCm39) |
|
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,983,533 (GRCm39) |
H92L |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,871,625 (GRCm39) |
T385A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,428 (GRCm39) |
V970A |
possibly damaging |
Het |
| Mccc1 |
A |
G |
3: 36,017,719 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,182,988 (GRCm39) |
|
probably benign |
Het |
| Mrnip |
G |
A |
11: 50,090,747 (GRCm39) |
A304T |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,819 (GRCm39) |
S3922P |
possibly damaging |
Het |
| Myh3 |
T |
A |
11: 66,987,333 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
T |
3: 55,944,698 (GRCm39) |
H555Q |
probably damaging |
Het |
| Niban3 |
T |
A |
8: 72,055,143 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,070,901 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
A |
T |
1: 86,315,400 (GRCm39) |
V178E |
probably damaging |
Het |
| Nod2 |
T |
G |
8: 89,390,406 (GRCm39) |
S238A |
probably benign |
Het |
| Ogfod1 |
A |
T |
8: 94,789,651 (GRCm39) |
T451S |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,935 (GRCm39) |
F288L |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,394 (GRCm39) |
Y290* |
probably null |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,809,138 (GRCm39) |
G146D |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,706,104 (GRCm39) |
I399V |
probably benign |
Het |
| Pdlim1 |
G |
T |
19: 40,232,017 (GRCm39) |
H120Q |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,637,968 (GRCm39) |
V798A |
probably damaging |
Het |
| Polr2c |
A |
G |
8: 95,584,403 (GRCm39) |
I39V |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,666,575 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,696 (GRCm39) |
I406N |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,160,098 (GRCm39) |
M366K |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,601,702 (GRCm39) |
I419T |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,108 (GRCm39) |
Q403R |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
A |
G |
13: 58,717,229 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
A |
T |
18: 76,422,108 (GRCm39) |
|
probably null |
Het |
| Smad4 |
G |
A |
18: 73,791,720 (GRCm39) |
P274S |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,710,149 (GRCm39) |
V906D |
probably damaging |
Het |
| Soat2 |
C |
A |
15: 102,067,188 (GRCm39) |
R320S |
possibly damaging |
Het |
| Spata33 |
C |
T |
8: 123,948,626 (GRCm39) |
A57V |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,865,375 (GRCm39) |
L1814P |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,783,008 (GRCm39) |
K680R |
probably benign |
Het |
| Stil |
A |
G |
4: 114,898,369 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
A |
7: 18,780,774 (GRCm39) |
L759H |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,650,325 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
A |
T |
6: 3,965,460 (GRCm39) |
N117K |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,323,943 (GRCm39) |
Y766C |
probably damaging |
Het |
| Trpt1 |
C |
A |
19: 6,975,298 (GRCm39) |
|
probably null |
Het |
| Tshz1 |
A |
G |
18: 84,034,174 (GRCm39) |
F78S |
possibly damaging |
Het |
| Ttc1 |
T |
C |
11: 43,629,635 (GRCm39) |
D177G |
probably damaging |
Het |
| Ttc13 |
T |
A |
8: 125,401,140 (GRCm39) |
Y741F |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,502,115 (GRCm39) |
S462L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,401,077 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
C |
7: 23,703,010 (GRCm39) |
T159P |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,230,462 (GRCm39) |
V515A |
possibly damaging |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,515 (GRCm39) |
Y210H |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,435 (GRCm39) |
T262A |
probably damaging |
Het |
| Vps53 |
G |
A |
11: 76,012,405 (GRCm39) |
T209I |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,162,582 (GRCm39) |
F95L |
possibly damaging |
Het |
| Wwp1 |
G |
T |
4: 19,627,911 (GRCm39) |
S694Y |
probably damaging |
Het |
| Zbtb8b |
T |
A |
4: 129,326,463 (GRCm39) |
D201V |
probably damaging |
Het |
| Zmym5 |
A |
C |
14: 57,041,908 (GRCm39) |
N123K |
possibly damaging |
Het |
|
| Other mutations in Col14a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Col14a1
|
APN |
15 |
55,274,981 (GRCm39) |
missense |
unknown |
|
|
IGL01290:Col14a1
|
APN |
15 |
55,286,903 (GRCm39) |
missense |
unknown |
|
|
IGL01300:Col14a1
|
APN |
15 |
55,331,372 (GRCm39) |
missense |
unknown |
|
|
IGL01505:Col14a1
|
APN |
15 |
55,318,619 (GRCm39) |
missense |
unknown |
|
|
IGL01533:Col14a1
|
APN |
15 |
55,284,236 (GRCm39) |
missense |
unknown |
|
|
IGL01563:Col14a1
|
APN |
15 |
55,351,337 (GRCm39) |
missense |
unknown |
|
|
IGL01650:Col14a1
|
APN |
15 |
55,270,089 (GRCm39) |
missense |
unknown |
|
|
IGL01659:Col14a1
|
APN |
15 |
55,309,568 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01670:Col14a1
|
APN |
15 |
55,192,662 (GRCm39) |
missense |
unknown |
|
|
IGL01760:Col14a1
|
APN |
15 |
55,286,855 (GRCm39) |
missense |
unknown |
|
|
IGL01803:Col14a1
|
APN |
15 |
55,282,210 (GRCm39) |
missense |
unknown |
|
|
IGL01966:Col14a1
|
APN |
15 |
55,312,121 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01990:Col14a1
|
APN |
15 |
55,226,859 (GRCm39) |
missense |
unknown |
|
|
IGL02124:Col14a1
|
APN |
15 |
55,327,099 (GRCm39) |
missense |
unknown |
|
|
IGL02138:Col14a1
|
APN |
15 |
55,284,231 (GRCm39) |
missense |
unknown |
|
|
IGL02192:Col14a1
|
APN |
15 |
55,225,798 (GRCm39) |
missense |
unknown |
|
|
IGL02326:Col14a1
|
APN |
15 |
55,282,193 (GRCm39) |
missense |
unknown |
|
|
IGL02335:Col14a1
|
APN |
15 |
55,327,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL02407:Col14a1
|
APN |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL02486:Col14a1
|
APN |
15 |
55,252,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02537:Col14a1
|
APN |
15 |
55,208,310 (GRCm39) |
nonsense |
probably null |
|
|
IGL02567:Col14a1
|
APN |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02643:Col14a1
|
APN |
15 |
55,284,258 (GRCm39) |
missense |
unknown |
|
|
IGL02669:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02673:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02674:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL03201:Col14a1
|
APN |
15 |
55,272,300 (GRCm39) |
missense |
unknown |
|
|
IGL03334:Col14a1
|
APN |
15 |
55,312,217 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03370:Col14a1
|
APN |
15 |
55,351,937 (GRCm39) |
splice site |
probably null |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,273,600 (GRCm39) |
missense |
unknown |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,335,104 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Col14a1
|
UTSW |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Col14a1
|
UTSW |
15 |
55,351,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Col14a1
|
UTSW |
15 |
55,271,264 (GRCm39) |
splice site |
probably benign |
|
|
R0468:Col14a1
|
UTSW |
15 |
55,252,042 (GRCm39) |
missense |
unknown |
|
|
R0652:Col14a1
|
UTSW |
15 |
55,208,278 (GRCm39) |
missense |
unknown |
|
|
R0692:Col14a1
|
UTSW |
15 |
55,205,134 (GRCm39) |
missense |
unknown |
|
|
R0745:Col14a1
|
UTSW |
15 |
55,201,813 (GRCm39) |
missense |
unknown |
|
|
R1006:Col14a1
|
UTSW |
15 |
55,383,331 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1331:Col14a1
|
UTSW |
15 |
55,273,584 (GRCm39) |
missense |
unknown |
|
|
R1537:Col14a1
|
UTSW |
15 |
55,244,163 (GRCm39) |
missense |
unknown |
|
|
R1557:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R1721:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1737:Col14a1
|
UTSW |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1837:Col14a1
|
UTSW |
15 |
55,245,891 (GRCm39) |
missense |
unknown |
|
|
R1867:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1868:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1991:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
|
R2020:Col14a1
|
UTSW |
15 |
55,309,577 (GRCm39) |
unclassified |
probably benign |
|
|
R2103:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
|
R2116:Col14a1
|
UTSW |
15 |
55,271,160 (GRCm39) |
missense |
unknown |
|
|
R2163:Col14a1
|
UTSW |
15 |
55,308,041 (GRCm39) |
unclassified |
probably benign |
|
|
R2207:Col14a1
|
UTSW |
15 |
55,327,082 (GRCm39) |
missense |
unknown |
|
|
R2215:Col14a1
|
UTSW |
15 |
55,244,238 (GRCm39) |
missense |
unknown |
|
|
R2264:Col14a1
|
UTSW |
15 |
55,330,086 (GRCm39) |
splice site |
probably null |
|
|
R2383:Col14a1
|
UTSW |
15 |
55,310,913 (GRCm39) |
unclassified |
probably benign |
|
|
R2397:Col14a1
|
UTSW |
15 |
55,201,835 (GRCm39) |
missense |
unknown |
|
|
R2422:Col14a1
|
UTSW |
15 |
55,313,318 (GRCm39) |
missense |
unknown |
|
|
R3793:Col14a1
|
UTSW |
15 |
55,226,909 (GRCm39) |
missense |
unknown |
|
|
R4082:Col14a1
|
UTSW |
15 |
55,300,429 (GRCm39) |
missense |
unknown |
|
|
R4112:Col14a1
|
UTSW |
15 |
55,226,955 (GRCm39) |
missense |
unknown |
|
|
R4519:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R4628:Col14a1
|
UTSW |
15 |
55,313,229 (GRCm39) |
nonsense |
probably null |
|
|
R4692:Col14a1
|
UTSW |
15 |
55,286,864 (GRCm39) |
missense |
unknown |
|
|
R4696:Col14a1
|
UTSW |
15 |
55,235,998 (GRCm39) |
missense |
unknown |
|
|
R4749:Col14a1
|
UTSW |
15 |
55,315,732 (GRCm39) |
missense |
unknown |
|
|
R5324:Col14a1
|
UTSW |
15 |
55,201,841 (GRCm39) |
missense |
unknown |
|
|
R5382:Col14a1
|
UTSW |
15 |
55,225,832 (GRCm39) |
missense |
unknown |
|
|
R5634:Col14a1
|
UTSW |
15 |
55,381,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Col14a1
|
UTSW |
15 |
55,286,908 (GRCm39) |
missense |
unknown |
|
|
R5828:Col14a1
|
UTSW |
15 |
55,300,372 (GRCm39) |
missense |
unknown |
|
|
R5873:Col14a1
|
UTSW |
15 |
55,309,182 (GRCm39) |
unclassified |
probably benign |
|
|
R5966:Col14a1
|
UTSW |
15 |
55,315,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6106:Col14a1
|
UTSW |
15 |
55,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Col14a1
|
UTSW |
15 |
55,244,246 (GRCm39) |
missense |
unknown |
|
|
R6319:Col14a1
|
UTSW |
15 |
55,379,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Col14a1
|
UTSW |
15 |
55,309,218 (GRCm39) |
unclassified |
probably benign |
|
|
R6540:Col14a1
|
UTSW |
15 |
55,235,977 (GRCm39) |
missense |
unknown |
|
|
R6893:Col14a1
|
UTSW |
15 |
55,308,044 (GRCm39) |
unclassified |
probably benign |
|
|
R6992:Col14a1
|
UTSW |
15 |
55,274,958 (GRCm39) |
splice site |
probably null |
|
|
R7284:Col14a1
|
UTSW |
15 |
55,381,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Col14a1
|
UTSW |
15 |
55,252,024 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7656:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7715:Col14a1
|
UTSW |
15 |
55,351,379 (GRCm39) |
missense |
unknown |
|
|
R7841:Col14a1
|
UTSW |
15 |
55,245,876 (GRCm39) |
missense |
unknown |
|
|
R7861:Col14a1
|
UTSW |
15 |
55,308,012 (GRCm39) |
missense |
unknown |
|
|
R7866:Col14a1
|
UTSW |
15 |
55,252,016 (GRCm39) |
missense |
unknown |
|
|
R7902:Col14a1
|
UTSW |
15 |
55,364,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8041:Col14a1
|
UTSW |
15 |
55,318,626 (GRCm39) |
missense |
unknown |
|
|
R8159:Col14a1
|
UTSW |
15 |
55,291,324 (GRCm39) |
missense |
unknown |
|
|
R8224:Col14a1
|
UTSW |
15 |
55,271,137 (GRCm39) |
missense |
unknown |
|
|
R8282:Col14a1
|
UTSW |
15 |
55,284,276 (GRCm39) |
missense |
unknown |
|
|
R8729:Col14a1
|
UTSW |
15 |
55,310,893 (GRCm39) |
nonsense |
probably null |
|
|
R8737:Col14a1
|
UTSW |
15 |
55,318,706 (GRCm39) |
nonsense |
probably null |
|
|
R8871:Col14a1
|
UTSW |
15 |
55,245,958 (GRCm39) |
missense |
unknown |
|
|
R9069:Col14a1
|
UTSW |
15 |
55,251,990 (GRCm39) |
missense |
unknown |
|
|
R9081:Col14a1
|
UTSW |
15 |
55,291,387 (GRCm39) |
missense |
unknown |
|
|
R9088:Col14a1
|
UTSW |
15 |
55,226,923 (GRCm39) |
missense |
unknown |
|
|
R9113:Col14a1
|
UTSW |
15 |
55,201,825 (GRCm39) |
missense |
unknown |
|
|
R9193:Col14a1
|
UTSW |
15 |
55,242,964 (GRCm39) |
missense |
unknown |
|
|
R9274:Col14a1
|
UTSW |
15 |
55,381,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9288:Col14a1
|
UTSW |
15 |
55,286,918 (GRCm39) |
missense |
unknown |
|
|
R9320:Col14a1
|
UTSW |
15 |
55,364,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9602:Col14a1
|
UTSW |
15 |
55,351,345 (GRCm39) |
missense |
unknown |
|
|
R9620:Col14a1
|
UTSW |
15 |
55,225,781 (GRCm39) |
missense |
unknown |
|
|
R9629:Col14a1
|
UTSW |
15 |
55,382,545 (GRCm39) |
missense |
|
|
|
X0023:Col14a1
|
UTSW |
15 |
55,286,843 (GRCm39) |
missense |
unknown |
|
|
X0063:Col14a1
|
UTSW |
15 |
55,273,611 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col14a1
|
UTSW |
15 |
55,235,966 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACTCTTTTCACCTGGAGAAAGC -3'
(R):5'- GCTGCTGTTCCCTAGACAAGAAACC -3'
Sequencing Primer
(F):5'- TCACCTGGAGAAAGCATGTGAAG -3'
(R):5'- GCACCTAATTACAGAATTGTCAAGGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation