Incidental Mutation 'R1837:Col14a1'
| ID |
205435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
039864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55245891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 465
(D465V)
|
| 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: D465V
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: D465V
| 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: D465V
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: D465V
| 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: D465V
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: D465V
| 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 |
|
| Meta Mutation Damage Score |
0.1143 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
G |
T |
2: 154,394,962 (GRCm39) |
G305W |
probably damaging |
Het |
| Actr3b |
A |
T |
5: 26,030,157 (GRCm39) |
T74S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,095,540 (GRCm39) |
E652G |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,615 (GRCm39) |
V83D |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
| BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
| Bcr |
A |
G |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Bzw1 |
A |
G |
1: 58,439,277 (GRCm39) |
K67E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Cdc73 |
T |
A |
1: 143,543,395 (GRCm39) |
T314S |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,728,813 (GRCm39) |
T31A |
probably damaging |
Het |
| Cfap58 |
G |
A |
19: 48,017,578 (GRCm39) |
E813K |
probably damaging |
Het |
| Clstn2 |
C |
A |
9: 97,465,593 (GRCm39) |
A133S |
probably benign |
Het |
| Col2a1 |
C |
T |
15: 97,894,522 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,365,957 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
T |
C |
11: 94,536,787 (GRCm39) |
D464G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,802 (GRCm39) |
|
probably null |
Het |
| Ern1 |
C |
A |
11: 106,349,783 (GRCm39) |
L44F |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,816 (GRCm39) |
S188R |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,610,639 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,750,379 (GRCm39) |
N226D |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,415,128 (GRCm39) |
D214G |
probably benign |
Het |
| Gm14226 |
A |
G |
2: 154,866,930 (GRCm39) |
I296V |
probably benign |
Het |
| Gm9915 |
A |
T |
1: 42,269,847 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
T |
C |
17: 79,128,180 (GRCm39) |
D485G |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,082 (GRCm39) |
I2785N |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,367 (GRCm39) |
T723M |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,257 (GRCm39) |
H3595Q |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
| Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
| Krt7 |
A |
G |
15: 101,317,463 (GRCm39) |
D252G |
probably benign |
Het |
| Lad1 |
C |
A |
1: 135,757,444 (GRCm39) |
D394E |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,033,692 (GRCm39) |
C38S |
possibly damaging |
Het |
| Lta4h |
C |
T |
10: 93,305,037 (GRCm39) |
T280M |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Med1 |
G |
T |
11: 98,060,238 (GRCm39) |
D230E |
probably damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,409 (GRCm39) |
F171I |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,639,273 (GRCm39) |
E135G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,360,823 (GRCm39) |
M1378K |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,604 (GRCm39) |
Q286L |
possibly damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,408 (GRCm39) |
G391R |
probably damaging |
Het |
| Nefl |
C |
T |
14: 68,324,075 (GRCm39) |
R438C |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,742 (GRCm39) |
V440I |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,343,296 (GRCm39) |
L1959Q |
probably damaging |
Het |
| Noto |
A |
G |
6: 85,401,159 (GRCm39) |
T63A |
probably benign |
Het |
| Oc90 |
G |
A |
15: 65,761,529 (GRCm39) |
T163M |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,114 (GRCm39) |
M287K |
probably benign |
Het |
| Or4c114 |
A |
T |
2: 88,905,176 (GRCm39) |
Y86* |
probably null |
Het |
| Or5an10 |
A |
G |
19: 12,275,740 (GRCm39) |
V252A |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
| Phlda1 |
A |
G |
10: 111,343,092 (GRCm39) |
Q276R |
probably benign |
Het |
| Ptpn21 |
T |
G |
12: 98,699,885 (GRCm39) |
K10Q |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,531 (GRCm39) |
E1364G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,484 (GRCm39) |
W237R |
probably damaging |
Het |
| Rai1 |
A |
T |
11: 60,080,224 (GRCm39) |
K1429N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,438 (GRCm39) |
I1027M |
probably damaging |
Het |
| Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
| Rpap1 |
A |
C |
2: 119,600,366 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,978,879 (GRCm39) |
C471S |
probably benign |
Het |
| Slc16a14 |
A |
G |
1: 84,890,120 (GRCm39) |
V395A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,722,916 (GRCm39) |
G323S |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,014,434 (GRCm39) |
E3208D |
probably damaging |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,799 (GRCm39) |
E432G |
possibly damaging |
Het |
| Tmem192 |
C |
A |
8: 65,416,992 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
T |
C |
19: 57,441,461 (GRCm39) |
V28A |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,028,106 (GRCm39) |
L1121H |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,735,764 (GRCm39) |
D290G |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,247 (GRCm39) |
G683D |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,291 (GRCm39) |
F255I |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,886 (GRCm39) |
I289F |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Wdr48 |
T |
G |
9: 119,734,482 (GRCm39) |
S134A |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,962,350 (GRCm39) |
Y139N |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,107 (GRCm39) |
V486A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,048 (GRCm39) |
T679A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,810,264 (GRCm39) |
S927P |
probably damaging |
Het |
| Zfp324 |
C |
T |
7: 12,704,156 (GRCm39) |
T115I |
probably benign |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,070,247 (GRCm39) |
C551S |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
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 |
|
|
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 |
|
|
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'- CCCTTGAAATATGAAATATGGCCAG -3'
(R):5'- CCACCAACGTCTTTATTTTGACAAC -3'
Sequencing Primer
(F):5'- GAAGGGATGTCACTCAGTTCC -3'
(R):5'- TATCTGGAAGGCAAAGGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation