Incidental Mutation 'R8871:Col14a1'
| ID |
676317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
068685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8871 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 55245958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 487
(D487E)
|
| 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: D487E
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: D487E
| 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: D487E
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: D487E
| 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: D487E
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: D487E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
99% (76/77) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,248,071 (GRCm39) |
M2606R |
probably benign |
Het |
| Abcg5 |
C |
T |
17: 84,990,295 (GRCm39) |
E3K |
probably benign |
Het |
| Adam20 |
A |
C |
8: 41,248,601 (GRCm39) |
H237P |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,424,684 (GRCm39) |
Y361C |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,944 (GRCm39) |
Y752N |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,500,998 (GRCm39) |
L759* |
probably null |
Het |
| Bdp1 |
A |
C |
13: 100,186,175 (GRCm39) |
V1759G |
probably damaging |
Het |
| Bicdl2 |
C |
A |
17: 23,885,777 (GRCm39) |
Q273K |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,857,285 (GRCm39) |
T491S |
possibly damaging |
Het |
| Cdkl2 |
A |
G |
5: 92,164,989 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,827 (GRCm39) |
I945K |
probably benign |
Het |
| Celf1 |
A |
G |
2: 90,840,840 (GRCm39) |
Y369C |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
T |
C |
16: 59,378,519 (GRCm39) |
N912D |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,596,554 (GRCm39) |
T86A |
probably damaging |
Het |
| Dixdc1 |
C |
T |
9: 50,595,096 (GRCm39) |
V482M |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,718,597 (GRCm39) |
Y1773H |
unknown |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,233,215 (GRCm39) |
|
probably null |
Het |
| Fbxo16 |
A |
G |
14: 65,531,348 (GRCm39) |
E84G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,855,257 (GRCm39) |
V1922D |
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,082,896 (GRCm39) |
H85R |
probably damaging |
Het |
| Galc |
A |
T |
12: 98,212,543 (GRCm39) |
N197K |
probably damaging |
Het |
| Galnt12 |
T |
G |
4: 47,108,582 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
T |
A |
5: 26,322,863 (GRCm39) |
Q183L |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,760,109 (GRCm39) |
T215A |
probably damaging |
Het |
| Hnrnpf |
T |
G |
6: 117,900,811 (GRCm39) |
S32A |
probably benign |
Het |
| Hspa1l |
T |
C |
17: 35,197,799 (GRCm39) |
Y613H |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,424 (GRCm39) |
V37D |
probably benign |
Het |
| Itga11 |
C |
A |
9: 62,668,823 (GRCm39) |
Y693* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,735,223 (GRCm39) |
F459L |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,067,719 (GRCm39) |
V656A |
possibly damaging |
Het |
| Kcnn4 |
A |
T |
7: 24,083,500 (GRCm39) |
I394F |
possibly damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,410,044 (GRCm39) |
Y176* |
probably null |
Het |
| Kif13a |
T |
C |
13: 46,984,279 (GRCm39) |
D162G |
probably damaging |
Het |
| Klhdc8b |
G |
A |
9: 108,326,871 (GRCm39) |
P164S |
probably damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,783,435 (GRCm39) |
Q357L |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,347,375 (GRCm39) |
M3107V |
unknown |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,552 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,567,344 (GRCm39) |
G1725V |
unknown |
Het |
| Myo5c |
T |
C |
9: 75,185,585 (GRCm39) |
S983P |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,580,146 (GRCm39) |
H217Y |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,781,968 (GRCm39) |
|
probably benign |
Het |
| Nrl |
A |
T |
14: 55,758,184 (GRCm39) |
L181Q |
probably damaging |
Het |
| Olig1 |
T |
C |
16: 91,067,545 (GRCm39) |
*261R |
probably null |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,536 (GRCm39) |
I45V |
|
Het |
| Or8j3c |
T |
C |
2: 86,253,697 (GRCm39) |
M108V |
probably benign |
Het |
| Oscp1 |
T |
A |
4: 125,952,535 (GRCm39) |
L21Q |
probably damaging |
Het |
| Oxct1 |
G |
A |
15: 4,064,763 (GRCm39) |
V34I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,195,033 (GRCm39) |
L1074P |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,900,503 (GRCm39) |
S463C |
|
Het |
| Pnpla3 |
G |
A |
15: 84,063,509 (GRCm39) |
E296K |
probably benign |
Het |
| Prss35 |
T |
G |
9: 86,637,244 (GRCm39) |
L5V |
possibly damaging |
Het |
| Rbck1 |
T |
C |
2: 152,164,096 (GRCm39) |
E336G |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,153,974 (GRCm39) |
R460Q |
probably damaging |
Het |
| Rmi1 |
T |
A |
13: 58,557,156 (GRCm39) |
N468K |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,751 (GRCm39) |
I39N |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,628 (GRCm39) |
F322S |
probably damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,544 (GRCm39) |
Y44* |
probably null |
Het |
| Setx |
A |
G |
2: 29,038,114 (GRCm39) |
D1533G |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,029,508 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,420,103 (GRCm39) |
Y50N |
probably damaging |
Het |
| Sh3gl2 |
C |
A |
4: 85,305,817 (GRCm39) |
P227Q |
|
Het |
| She |
T |
C |
3: 89,759,795 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,642,015 (GRCm39) |
I328T |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,262,887 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
A |
G |
11: 60,091,595 (GRCm39) |
S977P |
probably benign |
Het |
| Srsf9 |
T |
C |
5: 115,468,712 (GRCm39) |
V116A |
probably damaging |
Het |
| Tex15 |
G |
A |
8: 34,066,992 (GRCm39) |
V2141I |
possibly damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,249,704 (GRCm39) |
H347L |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,768,511 (GRCm39) |
F519S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,758,649 (GRCm39) |
T2159A |
probably benign |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,442 (GRCm39) |
Y144* |
probably null |
Het |
| Vmn2r10 |
A |
G |
5: 109,146,899 (GRCm39) |
I463T |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,641,186 (GRCm39) |
N2312I |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,919 (GRCm39) |
Y449* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,676,867 (GRCm39) |
D2639G |
possibly damaging |
Het |
| Zfp120 |
A |
G |
2: 149,959,995 (GRCm39) |
V131A |
probably benign |
Het |
| Zfp574 |
G |
T |
7: 24,780,562 (GRCm39) |
C528F |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,695 (GRCm39) |
N326K |
probably benign |
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 |
|
|
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 |
|
|
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'- TGGAAGGGCTGACATCTTGC -3'
(R):5'- CGTGACTGGACTTTTGTAAATAGCC -3'
Sequencing Primer
(F):5'- AGGGCTGACATCTTGCTTCTTATTAC -3'
(R):5'- CCTTGTATAGGTAGCATGATTGCCAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation