Incidental Mutation 'R2207:Col14a1'
ID |
239178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col14a1
|
Ensembl Gene |
ENSMUSG00000022371 |
Gene Name |
collagen, type XIV, alpha 1 |
Synonyms |
5730412L22Rik |
MMRRC Submission |
040209-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2207 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55327082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1411
(F1411L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
AlphaFold |
Q80X19 |
Predicted Effect |
unknown
Transcript: ENSMUST00000023053
AA Change: F1414L
|
SMART Domains |
Protein: ENSMUSP00000023053 Gene: ENSMUSG00000022371 AA Change: F1414L
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: F1415L
|
SMART Domains |
Protein: ENSMUSP00000105846 Gene: ENSMUSG00000022371 AA Change: F1415L
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: F1411L
|
SMART Domains |
Protein: ENSMUSP00000105850 Gene: ENSMUSG00000022371 AA Change: F1411L
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: F153L
|
SMART Domains |
Protein: ENSMUSP00000122455 Gene: ENSMUSG00000022371 AA Change: F153L
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
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: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
Abcb1b |
C |
T |
5: 8,874,803 (GRCm39) |
R488C |
probably benign |
Het |
Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
Aicda |
T |
A |
6: 122,538,244 (GRCm39) |
V134D |
possibly damaging |
Het |
Akt2 |
T |
A |
7: 27,336,625 (GRCm39) |
|
probably null |
Het |
Aldh1a3 |
T |
C |
7: 66,055,769 (GRCm39) |
R341G |
probably damaging |
Het |
Ankrd12 |
G |
T |
17: 66,338,569 (GRCm39) |
|
probably null |
Het |
Anxa11 |
A |
G |
14: 25,874,721 (GRCm39) |
Y244C |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,475,048 (GRCm39) |
R551Q |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bcl11a |
G |
T |
11: 24,113,343 (GRCm39) |
G229W |
probably damaging |
Het |
Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,603,987 (GRCm39) |
S1282T |
probably benign |
Het |
Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,890,882 (GRCm39) |
I241V |
probably damaging |
Het |
Ccdc9 |
A |
G |
7: 16,018,194 (GRCm39) |
|
probably benign |
Het |
Cdk17 |
G |
A |
10: 93,064,624 (GRCm39) |
D298N |
probably damaging |
Het |
Cdkl3 |
A |
G |
11: 51,918,020 (GRCm39) |
*354W |
probably null |
Het |
Celf6 |
A |
T |
9: 59,511,610 (GRCm39) |
Y401F |
possibly damaging |
Het |
Clec4a4 |
C |
T |
6: 122,990,766 (GRCm39) |
L169F |
probably damaging |
Het |
Col4a2 |
G |
T |
8: 11,493,352 (GRCm39) |
G1354W |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,869,906 (GRCm39) |
F838S |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,503,744 (GRCm39) |
V1654E |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,343,817 (GRCm39) |
L2406F |
probably benign |
Het |
Fam98b |
C |
G |
2: 117,098,300 (GRCm39) |
R257G |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,214,471 (GRCm39) |
C900* |
probably null |
Het |
Fgf1 |
A |
G |
18: 38,980,138 (GRCm39) |
Y79H |
possibly damaging |
Het |
Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,807,823 (GRCm39) |
S1381A |
probably benign |
Het |
Gtf2b |
G |
A |
3: 142,484,081 (GRCm39) |
G85D |
probably benign |
Het |
Gyg1 |
C |
A |
3: 20,204,703 (GRCm39) |
G161C |
probably damaging |
Het |
Hemgn |
G |
T |
4: 46,396,301 (GRCm39) |
L312I |
possibly damaging |
Het |
Hic2 |
T |
C |
16: 17,075,324 (GRCm39) |
M51T |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hpx |
C |
T |
7: 105,241,633 (GRCm39) |
R287H |
probably damaging |
Het |
Igf2bp3 |
C |
T |
6: 49,065,488 (GRCm39) |
G468E |
possibly damaging |
Het |
Il5ra |
C |
A |
6: 106,689,402 (GRCm39) |
E397* |
probably null |
Het |
Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
Kdm2a |
A |
T |
19: 4,412,898 (GRCm39) |
D29E |
probably damaging |
Het |
Lamc2 |
T |
G |
1: 153,009,452 (GRCm39) |
E784D |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,297,372 (GRCm39) |
N3196K |
possibly damaging |
Het |
Lyzl1 |
T |
A |
18: 4,181,962 (GRCm39) |
C96* |
probably null |
Het |
Maf1 |
A |
G |
15: 76,236,718 (GRCm39) |
T17A |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,591 (GRCm39) |
D1710G |
unknown |
Het |
Megf8 |
C |
T |
7: 25,049,222 (GRCm39) |
T1773I |
probably damaging |
Het |
Mei1 |
T |
C |
15: 81,987,450 (GRCm39) |
M414T |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,396,860 (GRCm39) |
N2643S |
probably benign |
Het |
Ndufa9 |
A |
G |
6: 126,821,772 (GRCm39) |
Y64H |
probably damaging |
Het |
Neb |
A |
T |
2: 52,101,579 (GRCm39) |
L4354* |
probably null |
Het |
Nom1 |
T |
A |
5: 29,644,972 (GRCm39) |
I480N |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,315,082 (GRCm39) |
T331M |
probably damaging |
Het |
Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or4f14b |
A |
C |
2: 111,775,270 (GRCm39) |
F177C |
probably damaging |
Het |
Or51a42 |
A |
G |
7: 103,708,612 (GRCm39) |
S66P |
probably damaging |
Het |
Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
Pgm2l1 |
T |
A |
7: 99,917,319 (GRCm39) |
|
probably null |
Het |
Pih1d2 |
C |
A |
9: 50,532,379 (GRCm39) |
H162N |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
Pla2r1 |
C |
A |
2: 60,288,779 (GRCm39) |
V618F |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,473,984 (GRCm39) |
S599P |
possibly damaging |
Het |
Prkg1 |
T |
C |
19: 30,556,260 (GRCm39) |
D562G |
probably damaging |
Het |
Proser1 |
T |
G |
3: 53,385,812 (GRCm39) |
S565A |
probably benign |
Het |
Prx |
T |
A |
7: 27,216,213 (GRCm39) |
V238E |
probably damaging |
Het |
Psapl1 |
T |
C |
5: 36,362,509 (GRCm39) |
I367T |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,767,595 (GRCm39) |
V128A |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,091,233 (GRCm39) |
M1K |
probably null |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,825,823 (GRCm39) |
S552P |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,190,896 (GRCm39) |
S225P |
possibly damaging |
Het |
Serpina3c |
T |
A |
12: 104,117,757 (GRCm39) |
I194F |
probably benign |
Het |
Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,285,632 (GRCm39) |
V356E |
probably damaging |
Het |
Slfn1 |
A |
G |
11: 83,011,992 (GRCm39) |
E36G |
possibly damaging |
Het |
Sorcs1 |
T |
C |
19: 50,218,655 (GRCm39) |
H609R |
possibly damaging |
Het |
Spag16 |
A |
G |
1: 70,764,043 (GRCm39) |
H621R |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
Tg |
G |
A |
15: 66,553,788 (GRCm39) |
G401D |
probably benign |
Het |
Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
Ttn |
A |
T |
2: 76,796,155 (GRCm39) |
I590K |
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
Zfp131 |
A |
T |
13: 120,237,348 (GRCm39) |
F303I |
probably damaging |
Het |
Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,064 (GRCm39) |
I567F |
probably damaging |
Het |
Zfyve26 |
A |
G |
12: 79,292,861 (GRCm39) |
V2096A |
probably 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 |
|
R0391:Col14a1
|
UTSW |
15 |
55,309,655 (GRCm39) |
unclassified |
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 |
|
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'- GATTTAGACTGCAGGTGGAGC -3'
(R):5'- TGATGGCCTCATTGGTTTCC -3'
Sequencing Primer
(F):5'- GCAAGTATAGACAGAATGTGTGATC -3'
(R):5'- TCATCACAAAAGGAACTGCTTATGG -3'
|
Posted On |
2014-10-02 |