Incidental Mutation 'R2020:Col14a1'
| ID |
223885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
040029-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 55309577 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: T1123I
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: T1123I
| 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: T1124I
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: T1124I
| 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: T1120I
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: T1120I
| 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 |
0.0953 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
99% (87/88) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
C |
A |
1: 158,796,482 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
G |
A |
12: 21,399,876 (GRCm39) |
R177C |
probably damaging |
Het |
| Ak7 |
G |
A |
12: 105,711,591 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
C |
5: 4,011,967 (GRCm39) |
V890A |
probably damaging |
Het |
| Alg6 |
A |
G |
4: 99,626,369 (GRCm39) |
N59S |
probably damaging |
Het |
| Alkbh5 |
G |
T |
11: 60,429,375 (GRCm39) |
A43S |
probably benign |
Het |
| Anxa2 |
C |
A |
9: 69,391,099 (GRCm39) |
D162E |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,050,725 (GRCm39) |
H1136R |
probably benign |
Het |
| Arhgap18 |
A |
G |
10: 26,730,900 (GRCm39) |
R121G |
probably benign |
Het |
| Arhgef4 |
A |
T |
1: 34,762,891 (GRCm39) |
T716S |
unknown |
Het |
| Atg2a |
T |
C |
19: 6,300,299 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,117,770 (GRCm39) |
I480V |
probably null |
Het |
| Cdipt |
T |
C |
7: 126,576,105 (GRCm39) |
V20A |
possibly damaging |
Het |
| Cgrrf1 |
C |
T |
14: 47,067,902 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,226 (GRCm39) |
V2152I |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,452,698 (GRCm39) |
S1274C |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,095,782 (GRCm39) |
M17K |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,654,956 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
G |
6: 22,143,963 (GRCm39) |
I570V |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Ddx27 |
A |
C |
2: 166,875,691 (GRCm39) |
Q674P |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,333,158 (GRCm39) |
F131L |
probably damaging |
Het |
| Dhx38 |
G |
A |
8: 110,283,501 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,301,378 (GRCm39) |
N2175K |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,022,625 (GRCm39) |
Y1654* |
probably null |
Het |
| Dock7 |
T |
A |
4: 98,847,338 (GRCm39) |
H1658L |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,162,925 (GRCm39) |
I555V |
probably benign |
Het |
| Eif2ak2 |
T |
C |
17: 79,171,392 (GRCm39) |
E337G |
possibly damaging |
Het |
| Fabp12 |
T |
A |
3: 10,315,209 (GRCm39) |
D46V |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,855,019 (GRCm39) |
S1882P |
probably benign |
Het |
| Fech |
C |
T |
18: 64,611,798 (GRCm39) |
E79K |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,444,362 (GRCm39) |
I693F |
probably damaging |
Het |
| Foxp2 |
G |
A |
6: 15,324,643 (GRCm39) |
C97Y |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,894 (GRCm39) |
M884T |
probably benign |
Het |
| Gtf2ird1 |
T |
C |
5: 134,445,947 (GRCm39) |
D28G |
probably damaging |
Het |
| Gtf3c4 |
C |
A |
2: 28,723,906 (GRCm39) |
G468W |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,424,585 (GRCm39) |
L201* |
probably null |
Het |
| Ift70a1 |
A |
G |
2: 75,811,279 (GRCm39) |
V268A |
probably benign |
Het |
| Il1rl2 |
C |
A |
1: 40,404,374 (GRCm39) |
S498R |
probably damaging |
Het |
| Ildr1 |
C |
T |
16: 36,545,903 (GRCm39) |
R489W |
probably damaging |
Het |
| Itga10 |
G |
A |
3: 96,559,806 (GRCm39) |
G487D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,448,640 (GRCm39) |
N128D |
probably benign |
Het |
| Lgr6 |
G |
A |
1: 135,003,013 (GRCm39) |
T79M |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,620,651 (GRCm39) |
T232A |
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,469,060 (GRCm39) |
L328P |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,824,163 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,473,690 (GRCm39) |
R31G |
probably benign |
Het |
| Nipsnap2 |
C |
A |
5: 129,830,287 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
G |
T |
11: 69,719,267 (GRCm39) |
N194K |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,664 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
| Or5b98 |
G |
A |
19: 12,931,696 (GRCm39) |
V248I |
possibly damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,087 (GRCm39) |
I158M |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,728 (GRCm39) |
Y203C |
possibly damaging |
Het |
| Pcca |
T |
A |
14: 123,050,634 (GRCm39) |
M101K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,212,708 (GRCm39) |
T671A |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,232,536 (GRCm39) |
V868M |
probably damaging |
Het |
| Prkcq |
G |
A |
2: 11,284,332 (GRCm39) |
V501I |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,168,595 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,051,398 (GRCm39) |
V41A |
probably damaging |
Het |
| Rab39 |
C |
T |
9: 53,597,698 (GRCm39) |
G189E |
possibly damaging |
Het |
| Ret |
T |
C |
6: 118,157,343 (GRCm39) |
K236E |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,596,153 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,352,744 (GRCm39) |
T3916A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,665 (GRCm39) |
N336S |
probably damaging |
Het |
| Sag |
G |
A |
1: 87,733,037 (GRCm39) |
A2T |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,063 (GRCm39) |
Y197C |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,408,864 (GRCm39) |
I183T |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,781,377 (GRCm39) |
V1166M |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,727,339 (GRCm39) |
F361Y |
probably damaging |
Het |
| Spaca9 |
A |
G |
2: 28,586,013 (GRCm39) |
L17P |
probably damaging |
Het |
| Sqor |
T |
C |
2: 122,646,027 (GRCm39) |
|
probably null |
Het |
| Stx18 |
A |
G |
5: 38,292,588 (GRCm39) |
H230R |
probably damaging |
Het |
| Tas2r130 |
A |
T |
6: 131,607,732 (GRCm39) |
I21N |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,658 (GRCm39) |
S365P |
possibly damaging |
Het |
| Tinagl1 |
G |
A |
4: 130,060,765 (GRCm39) |
H351Y |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,305 (GRCm39) |
Y333H |
probably damaging |
Het |
| Trp53bp2 |
A |
T |
1: 182,270,384 (GRCm39) |
T395S |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,773 (GRCm39) |
S751P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,657,368 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,268 (GRCm39) |
Y425C |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,094 (GRCm39) |
L273F |
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,448 (GRCm39) |
C636* |
probably null |
Het |
| Vmn2r59 |
A |
C |
7: 41,693,203 (GRCm39) |
Y466D |
probably damaging |
Het |
| Zic5 |
C |
T |
14: 122,702,242 (GRCm39) |
G163D |
unknown |
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 |
|
|
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'- ATCAAGTGTGGAATCCAGGG -3'
(R):5'- TGTGTGCTTAAAGCCAGAATTG -3'
Sequencing Primer
(F):5'- CGCATCACAGGTACCTTGC -3'
(R):5'- AAGCCAGAATTGTTCTCGGTAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation