Incidental Mutation 'R0652:Col14a1'
| ID |
62334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
038837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0652 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55208278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 121
(E121A)
|
| 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: E121A
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: E121A
| 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: E121A
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: E121A
| 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: E121A
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: E121A
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.3%
- 20x: 90.1%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,042,889 (GRCm39) |
N387D |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
C |
A |
10: 20,855,360 (GRCm39) |
H556Q |
probably damaging |
Het |
| Amph |
A |
G |
13: 19,270,791 (GRCm39) |
|
probably null |
Het |
| Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
| Apoo-ps |
A |
T |
13: 107,550,910 (GRCm39) |
|
noncoding transcript |
Het |
| Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,397,314 (GRCm39) |
V1673A |
probably damaging |
Het |
| B3gnt3 |
A |
T |
8: 72,146,466 (GRCm39) |
V21E |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,832,435 (GRCm39) |
D77G |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,191 (GRCm39) |
H643Q |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,982,941 (GRCm39) |
F3604S |
unknown |
Het |
| Cacna1c |
A |
G |
6: 118,579,190 (GRCm39) |
F1753L |
probably damaging |
Het |
| Cd74 |
T |
C |
18: 60,944,957 (GRCm39) |
S201P |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,940,336 (GRCm39) |
L101Q |
probably benign |
Het |
| Cfap161 |
T |
C |
7: 83,442,484 (GRCm39) |
I110V |
probably null |
Het |
| Cnksr3 |
T |
C |
10: 7,070,463 (GRCm39) |
D257G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
| Ctnnd1 |
A |
G |
2: 84,433,240 (GRCm39) |
I609T |
probably benign |
Het |
| Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 119,220,924 (GRCm39) |
D965G |
probably damaging |
Het |
| Efcab2 |
T |
A |
1: 178,308,911 (GRCm39) |
M138K |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,649 (GRCm39) |
S204P |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
| Fbxw20 |
T |
G |
9: 109,061,400 (GRCm39) |
Q116H |
probably damaging |
Het |
| Fech |
A |
G |
18: 64,591,240 (GRCm39) |
S395P |
probably damaging |
Het |
| Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
| Ganab |
A |
T |
19: 8,892,766 (GRCm39) |
|
probably null |
Het |
| Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
| Gja4 |
T |
A |
4: 127,205,920 (GRCm39) |
Y281F |
probably benign |
Het |
| Gm5141 |
T |
C |
13: 62,921,946 (GRCm39) |
T407A |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,277 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
| Hp1bp3 |
C |
A |
4: 137,956,080 (GRCm39) |
N50K |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
| Ido1 |
A |
G |
8: 25,075,260 (GRCm39) |
F183S |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
| Lypd11 |
T |
A |
7: 24,423,622 (GRCm39) |
N14I |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,133,264 (GRCm39) |
D1360G |
probably benign |
Het |
| Megf10 |
C |
T |
18: 57,410,796 (GRCm39) |
P702S |
probably benign |
Het |
| Met |
A |
G |
6: 17,491,709 (GRCm39) |
E157G |
probably benign |
Het |
| Mff |
A |
G |
1: 82,728,285 (GRCm39) |
D187G |
possibly damaging |
Het |
| Mlph |
A |
T |
1: 90,870,630 (GRCm39) |
I514F |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Myo15b |
T |
C |
11: 115,755,468 (GRCm39) |
V976A |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,779,209 (GRCm39) |
D1655G |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,405,188 (GRCm39) |
H481L |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,332,964 (GRCm39) |
S2220P |
probably benign |
Het |
| Nom1 |
C |
A |
5: 29,640,309 (GRCm39) |
P212T |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,399 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,198,467 (GRCm39) |
F44S |
possibly damaging |
Het |
| Numb |
C |
T |
12: 83,842,566 (GRCm39) |
V537I |
probably damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,545 (GRCm39) |
M119K |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
| Or5b109 |
A |
T |
19: 13,211,899 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Or5h17 |
A |
G |
16: 58,820,063 (GRCm39) |
N5S |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,248 (GRCm39) |
T47S |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,199 (GRCm39) |
V171E |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,762 (GRCm39) |
Y369F |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,162,436 (GRCm39) |
N1359S |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
T |
C |
2: 101,602,635 (GRCm39) |
T2A |
possibly damaging |
Het |
| Rbp3 |
T |
A |
14: 33,680,605 (GRCm39) |
I1069N |
possibly damaging |
Het |
| Rnf144b |
A |
G |
13: 47,373,983 (GRCm39) |
Y60C |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,903,128 (GRCm39) |
V396E |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
| Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
| Sigirr |
A |
T |
7: 140,672,980 (GRCm39) |
V69D |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,805,290 (GRCm39) |
Y396H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,128,637 (GRCm39) |
I599N |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,830 (GRCm39) |
M469K |
probably benign |
Het |
| Wasf1 |
T |
A |
10: 40,807,902 (GRCm39) |
|
probably null |
Het |
| Wdr20rt |
T |
C |
12: 65,272,689 (GRCm39) |
S51P |
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 |
|
|
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'- AGGCTAAGGCCAACCAATGCTTAC -3'
(R):5'- TCTGCTGATGGGCCAGACTACTAC -3'
Sequencing Primer
(F):5'- actcagaaatccgcttgcc -3'
(R):5'- GGGCCAGACTACTACAGATATTGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation