Incidental Mutation 'R7861:Col14a1'
| ID |
607542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
045914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55308012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1044
(D1044G)
|
| 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: D1047G
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: D1047G
| 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: D1048G
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: D1048G
| 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: D1044G
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: D1044G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,797,360 (GRCm39) |
I50F |
possibly damaging |
Het |
| Abcc3 |
T |
C |
11: 94,248,075 (GRCm39) |
D1175G |
probably null |
Het |
| Accs |
C |
A |
2: 93,666,077 (GRCm39) |
*503L |
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,604,485 (GRCm39) |
E520G |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,681,525 (GRCm39) |
C215F |
probably benign |
Het |
| Apbb1ip |
A |
C |
2: 22,706,990 (GRCm39) |
D9A |
unknown |
Het |
| Atad2 |
G |
A |
15: 57,989,176 (GRCm39) |
A228V |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,438,107 (GRCm39) |
S430P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,573 (GRCm39) |
D6G |
unknown |
Het |
| Brca1 |
A |
T |
11: 101,417,248 (GRCm39) |
N295K |
possibly damaging |
Het |
| Caly |
C |
A |
7: 139,661,301 (GRCm39) |
|
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,053 (GRCm39) |
Y386H |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,233,357 (GRCm39) |
D888G |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dhrs7b |
T |
A |
11: 60,746,568 (GRCm39) |
L219Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,444,324 (GRCm39) |
P545S |
probably damaging |
Het |
| Dnajc24 |
A |
T |
2: 105,832,380 (GRCm39) |
M1K |
probably null |
Het |
| Dusp12 |
C |
T |
1: 170,702,095 (GRCm39) |
W301* |
probably null |
Het |
| Dyrk1a |
G |
T |
16: 94,492,575 (GRCm39) |
G603* |
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,498,452 (GRCm39) |
V403E |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,387,100 (GRCm39) |
E90G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,810,721 (GRCm39) |
S1303G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,118,895 (GRCm39) |
Y627N |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,493,625 (GRCm39) |
L22* |
probably null |
Het |
| Fcamr |
T |
A |
1: 130,742,375 (GRCm39) |
N587K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,939,193 (GRCm39) |
N946S |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,523,148 (GRCm39) |
I477N |
possibly damaging |
Het |
| Grifin |
C |
T |
5: 140,550,280 (GRCm39) |
A54T |
probably benign |
Het |
| Gtf2b |
A |
G |
3: 142,487,105 (GRCm39) |
I180M |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,559 (GRCm39) |
D378V |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,788 (GRCm39) |
E378G |
probably damaging |
Het |
| Khdc1a |
T |
C |
1: 21,420,623 (GRCm39) |
I81T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,917,322 (GRCm39) |
D617E |
probably damaging |
Het |
| Kifc3 |
T |
A |
8: 95,834,165 (GRCm39) |
|
probably null |
Het |
| Kirrel3 |
C |
T |
9: 34,931,419 (GRCm39) |
H403Y |
possibly damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,820 (GRCm39) |
V132I |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,730,031 (GRCm39) |
S3429P |
unknown |
Het |
| Lama1 |
T |
G |
17: 68,116,216 (GRCm39) |
L2361R |
|
Het |
| Lrp1b |
T |
C |
2: 40,587,570 (GRCm39) |
D3895G |
|
Het |
| Mcoln3 |
A |
C |
3: 145,830,546 (GRCm39) |
E92A |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 69,939,032 (GRCm39) |
M135T |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,835,204 (GRCm39) |
*820Q |
probably null |
Het |
| Ncoa7 |
A |
G |
10: 30,567,056 (GRCm39) |
S541P |
probably benign |
Het |
| Nup54 |
T |
C |
5: 92,578,952 (GRCm39) |
T33A |
unknown |
Het |
| Or10al2 |
C |
A |
17: 37,983,408 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or13a17 |
T |
G |
7: 140,271,484 (GRCm39) |
I222S |
probably damaging |
Het |
| Or1s2 |
T |
C |
19: 13,758,810 (GRCm39) |
V276A |
possibly damaging |
Het |
| Or4k42 |
T |
A |
2: 111,320,369 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51a5 |
T |
A |
7: 102,771,899 (GRCm39) |
I27F |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,826,414 (GRCm39) |
C18R |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,858 (GRCm39) |
E284G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,020,055 (GRCm39) |
W598L |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,847,543 (GRCm39) |
C49S |
probably damaging |
Het |
| Pramel11 |
T |
C |
4: 143,624,288 (GRCm39) |
M70V |
possibly damaging |
Het |
| Prdx1 |
T |
G |
4: 116,550,935 (GRCm39) |
D135E |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,849,903 (GRCm39) |
Y88F |
probably damaging |
Het |
| Rem2 |
C |
A |
14: 54,715,256 (GRCm39) |
H144Q |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,301,406 (GRCm39) |
D737G |
probably damaging |
Het |
| Srd5a3 |
C |
T |
5: 76,295,666 (GRCm39) |
Q119* |
probably null |
Het |
| Suclg2 |
G |
T |
6: 95,571,703 (GRCm39) |
Q120K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,161 (GRCm39) |
M1282K |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 51,063,720 (GRCm39) |
Q620L |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,709,590 (GRCm39) |
A91S |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,087,435 (GRCm39) |
F1184Y |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,762,339 (GRCm39) |
V321E |
possibly damaging |
Het |
| Trim5 |
C |
A |
7: 103,915,675 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,299 (GRCm39) |
Y382* |
probably null |
Het |
| Usp40 |
C |
T |
1: 87,909,852 (GRCm39) |
G534D |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,728,112 (GRCm39) |
H823Q |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,235,829 (GRCm39) |
M508L |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,449,351 (GRCm39) |
I296F |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,632,668 (GRCm39) |
S2563G |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,220,912 (GRCm39) |
F207L |
|
Het |
| Zan |
A |
G |
5: 137,405,295 (GRCm39) |
S3777P |
unknown |
Het |
| Zfp277 |
T |
C |
12: 40,365,880 (GRCm39) |
N530D |
possibly damaging |
Het |
| Zfp365 |
G |
A |
10: 67,745,749 (GRCm39) |
R10W |
probably damaging |
Het |
| Zfp384 |
A |
T |
6: 125,013,288 (GRCm39) |
H452L |
probably damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,374,487 (GRCm39) |
L509Q |
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 |
|
|
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 |
|
|
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'- GGTGGTACAGTTTTAGGAGCAC -3'
(R):5'- AGTTCTACGATTACATCCCCTGAC -3'
Sequencing Primer
(F):5'- GAAGGTGGATCTTAATAGCTTAAGC -3'
(R):5'- ACGATTACATCCCCTGACATGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation