Incidental Mutation 'R7201:Col15a1'
| ID |
560283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47307752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1178
(Y1178F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107730]
[ENSMUST00000107731]
|
| AlphaFold |
O35206 |
| PDB Structure |
MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082303
AA Change: Y1156F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: Y1156F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSPN
|
40 |
228 |
2.53e-56 |
SMART |
|
LamG
|
89 |
227 |
1.7e-7 |
SMART |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
567 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
603 |
663 |
1.4e-10 |
PFAM |
|
Pfam:Collagen
|
650 |
719 |
2.1e-9 |
PFAM |
|
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
759 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
782 |
832 |
2.7e-10 |
PFAM |
|
Pfam:Collagen
|
838 |
894 |
5.1e-10 |
PFAM |
|
low complexity region
|
965 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1020 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1087 |
1164 |
9.3e-15 |
PFAM |
|
Pfam:Endostatin
|
1148 |
1345 |
1.4e-97 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102917
AA Change: Y1178F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: Y1178F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSPN
|
40 |
228 |
2.53e-56 |
SMART |
|
LamG
|
89 |
227 |
1.7e-7 |
SMART |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
567 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
603 |
666 |
5.6e-10 |
PFAM |
|
Pfam:Collagen
|
659 |
720 |
3.1e-10 |
PFAM |
|
low complexity region
|
737 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
781 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
804 |
854 |
9.5e-10 |
PFAM |
|
Pfam:Collagen
|
860 |
916 |
1.8e-9 |
PFAM |
|
low complexity region
|
987 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1109 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1112 |
1362 |
2.8e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107730
AA Change: Y89F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103358
Gene: ENSMUSG00000028339
AA Change: Y89F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endostatin
|
20 |
100 |
8.7e-16 |
PFAM |
|
Pfam:Endostatin
|
83 |
278 |
5.7e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107731
AA Change: Y344F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
AA Change: Y344F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
6 |
81 |
6.5e-9 |
PFAM |
|
Pfam:Collagen
|
48 |
102 |
3.8e-8 |
PFAM |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
196 |
258 |
4.1e-8 |
PFAM |
|
Pfam:Endostatin
|
275 |
355 |
2.5e-15 |
PFAM |
|
Pfam:Endostatin
|
336 |
533 |
2.8e-98 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (80/81) |
| 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 XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium. [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 |
|---|
| Acaca |
A |
G |
11: 84,153,300 (GRCm39) |
T903A |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,902,356 (GRCm39) |
S479T |
possibly damaging |
Het |
| Actr6 |
A |
T |
10: 89,548,374 (GRCm39) |
D370E |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,872,069 (GRCm39) |
F921S |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,814,546 (GRCm39) |
H320Q |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,250,166 (GRCm39) |
Q306* |
probably null |
Het |
| Art4 |
A |
T |
6: 136,831,547 (GRCm39) |
V198E |
probably benign |
Het |
| Asph |
G |
A |
4: 9,474,917 (GRCm39) |
R686W |
probably damaging |
Het |
| Atg7 |
A |
G |
6: 114,754,018 (GRCm39) |
H724R |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,680 (GRCm39) |
V146A |
probably damaging |
Het |
| Bcl2a1d |
T |
A |
9: 88,613,639 (GRCm39) |
Q45L |
probably damaging |
Het |
| Bmal1 |
T |
A |
7: 112,884,349 (GRCm39) |
M122K |
probably damaging |
Het |
| Cd28 |
G |
T |
1: 60,802,332 (GRCm39) |
E84* |
probably null |
Het |
| Ceacam3 |
G |
A |
7: 16,892,163 (GRCm39) |
W302* |
probably null |
Het |
| Cerkl |
T |
C |
2: 79,163,934 (GRCm39) |
N462S |
probably benign |
Het |
| Cisd2 |
A |
T |
3: 135,116,974 (GRCm39) |
L39H |
probably damaging |
Het |
| Col11a1 |
C |
A |
3: 113,883,806 (GRCm39) |
T225K |
unknown |
Het |
| Cul4a |
T |
C |
8: 13,192,991 (GRCm39) |
S630P |
probably damaging |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,220 (GRCm39) |
I327F |
probably damaging |
Het |
| Cyp3a25 |
A |
C |
5: 145,928,257 (GRCm39) |
S263A |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,939,868 (GRCm39) |
L46F |
probably benign |
Het |
| Dmrta1 |
T |
A |
4: 89,580,408 (GRCm39) |
L456* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,536,579 (GRCm39) |
L2165P |
probably benign |
Het |
| Dsg1a |
C |
A |
18: 20,461,368 (GRCm39) |
S253R |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,744 (GRCm39) |
I323S |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
| Fcgr2b |
G |
T |
1: 170,790,966 (GRCm39) |
Q276K |
probably benign |
Het |
| Fcrl2 |
C |
T |
3: 87,159,934 (GRCm39) |
C440Y |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,963,666 (GRCm39) |
V266A |
unknown |
Het |
| Glo1 |
A |
T |
17: 30,816,828 (GRCm39) |
D109E |
probably benign |
Het |
| Grin3b |
A |
G |
10: 79,809,912 (GRCm39) |
R473G |
possibly damaging |
Het |
| Ica1 |
G |
A |
6: 8,644,015 (GRCm39) |
L425F |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,281,974 (GRCm39) |
D571E |
probably damaging |
Het |
| Ilrun |
A |
C |
17: 28,013,044 (GRCm39) |
|
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,473,099 (GRCm39) |
E716G |
possibly damaging |
Het |
| Klra17 |
A |
T |
6: 129,850,306 (GRCm39) |
I48K |
possibly damaging |
Het |
| Lrrc66 |
G |
T |
5: 73,787,240 (GRCm39) |
Q37K |
probably benign |
Het |
| Ly6a |
T |
A |
15: 74,868,325 (GRCm39) |
T55S |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,883,885 (GRCm39) |
Y2924* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,522,177 (GRCm39) |
Y140H |
probably benign |
Het |
| Mak |
T |
C |
13: 41,204,916 (GRCm39) |
I141V |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,379,998 (GRCm39) |
I789T |
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,206 (GRCm39) |
D326G |
possibly damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,634 (GRCm39) |
I123T |
probably benign |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Myef2 |
T |
C |
2: 124,938,082 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,228,402 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo18b |
C |
T |
5: 112,863,325 (GRCm39) |
C2171Y |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,877 (GRCm39) |
Y85* |
probably null |
Het |
| Nyap1 |
A |
T |
5: 137,734,524 (GRCm39) |
S170T |
probably damaging |
Het |
| Ogfr |
AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,887 (GRCm39) |
|
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,553 (GRCm39) |
Y157H |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,167 (GRCm39) |
V247A |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,305,687 (GRCm39) |
L244P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,433,844 (GRCm39) |
D597V |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,942,177 (GRCm39) |
M1K |
probably null |
Het |
| Ppwd1 |
G |
A |
13: 104,343,680 (GRCm39) |
P575L |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,695,338 (GRCm39) |
|
probably null |
Het |
| Prc1 |
A |
G |
7: 79,960,837 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,227,602 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,516,667 (GRCm39) |
I1014V |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,999,388 (GRCm39) |
Y999C |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,335,626 (GRCm39) |
Q539* |
probably null |
Het |
| Rps12 |
A |
G |
10: 23,661,129 (GRCm39) |
Y127H |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,679,079 (GRCm39) |
D116G |
probably benign |
Het |
| Selenbp2 |
C |
T |
3: 94,609,664 (GRCm39) |
P294L |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,722,300 (GRCm39) |
Y516H |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,394,627 (GRCm39) |
N673S |
probably null |
Het |
| Snap91 |
A |
T |
9: 86,672,199 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,127,461 (GRCm39) |
M1850V |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,712,626 (GRCm39) |
F653L |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,016,213 (GRCm39) |
S824T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,358 (GRCm39) |
V341A |
probably benign |
Het |
| Tmem52 |
G |
A |
4: 155,554,778 (GRCm39) |
G134R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,606,951 (GRCm39) |
T3949A |
probably benign |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,583 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,915,496 (GRCm39) |
R485* |
probably null |
Het |
| Vwce |
A |
G |
19: 10,615,479 (GRCm39) |
E120G |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,692,287 (GRCm39) |
V566A |
possibly damaging |
Het |
|
| Other mutations in Col15a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Col15a1
|
APN |
4 |
47,208,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01561:Col15a1
|
APN |
4 |
47,312,118 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01750:Col15a1
|
APN |
4 |
47,303,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Col15a1
|
APN |
4 |
47,253,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL02158:Col15a1
|
APN |
4 |
47,300,606 (GRCm39) |
splice site |
probably null |
|
|
IGL02268:Col15a1
|
APN |
4 |
47,245,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02325:Col15a1
|
APN |
4 |
47,289,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Col15a1
|
APN |
4 |
47,279,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02699:Col15a1
|
APN |
4 |
47,284,471 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03167:Col15a1
|
APN |
4 |
47,282,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03174:Col15a1
|
APN |
4 |
47,282,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0299:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0499:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0567:Col15a1
|
UTSW |
4 |
47,293,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0607:Col15a1
|
UTSW |
4 |
47,282,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0992:Col15a1
|
UTSW |
4 |
47,300,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1165:Col15a1
|
UTSW |
4 |
47,257,275 (GRCm39) |
splice site |
probably benign |
|
|
R1191:Col15a1
|
UTSW |
4 |
47,254,083 (GRCm39) |
nonsense |
probably null |
|
|
R1852:Col15a1
|
UTSW |
4 |
47,299,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2349:Col15a1
|
UTSW |
4 |
47,306,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2512:Col15a1
|
UTSW |
4 |
47,245,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2517:Col15a1
|
UTSW |
4 |
47,208,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2895:Col15a1
|
UTSW |
4 |
47,312,091 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3688:Col15a1
|
UTSW |
4 |
47,258,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3848:Col15a1
|
UTSW |
4 |
47,289,374 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4430:Col15a1
|
UTSW |
4 |
47,245,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Col15a1
|
UTSW |
4 |
47,257,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Col15a1
|
UTSW |
4 |
47,262,997 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4812:Col15a1
|
UTSW |
4 |
47,262,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4922:Col15a1
|
UTSW |
4 |
47,258,719 (GRCm39) |
missense |
probably benign |
|
|
R5233:Col15a1
|
UTSW |
4 |
47,296,112 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5602:Col15a1
|
UTSW |
4 |
47,312,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Col15a1
|
UTSW |
4 |
47,280,865 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5910:Col15a1
|
UTSW |
4 |
47,289,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Col15a1
|
UTSW |
4 |
47,300,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5974:Col15a1
|
UTSW |
4 |
47,258,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5985:Col15a1
|
UTSW |
4 |
47,284,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6010:Col15a1
|
UTSW |
4 |
47,245,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6720:Col15a1
|
UTSW |
4 |
47,247,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6791:Col15a1
|
UTSW |
4 |
47,300,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Col15a1
|
UTSW |
4 |
47,245,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Col15a1
|
UTSW |
4 |
47,247,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7261:Col15a1
|
UTSW |
4 |
47,269,088 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7273:Col15a1
|
UTSW |
4 |
47,284,467 (GRCm39) |
splice site |
probably null |
|
|
R7413:Col15a1
|
UTSW |
4 |
47,245,431 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7658:Col15a1
|
UTSW |
4 |
47,245,591 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8032:Col15a1
|
UTSW |
4 |
47,288,108 (GRCm39) |
missense |
unknown |
|
|
R8075:Col15a1
|
UTSW |
4 |
47,208,359 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8130:Col15a1
|
UTSW |
4 |
47,312,196 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8536:Col15a1
|
UTSW |
4 |
47,208,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8873:Col15a1
|
UTSW |
4 |
47,247,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8887:Col15a1
|
UTSW |
4 |
47,287,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9143:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9161:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9176:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9177:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9181:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9184:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9185:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9214:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9268:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9269:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9362:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9367:Col15a1
|
UTSW |
4 |
47,245,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Col15a1
|
UTSW |
4 |
47,300,473 (GRCm39) |
nonsense |
probably null |
|
|
R9391:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9392:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9419:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9421:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9422:Col15a1
|
UTSW |
4 |
47,293,364 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9426:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9427:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9429:Col15a1
|
UTSW |
4 |
47,310,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Col15a1
|
UTSW |
4 |
47,257,187 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9747:Col15a1
|
UTSW |
4 |
47,312,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col15a1
|
UTSW |
4 |
47,245,807 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCTCCTTTGCTGGTGA -3'
(R):5'- GCATCCCACCCTCCCATGAT -3'
Sequencing Primer
(F):5'- TGACTTTTTGTTTGGCTGTAAAAG -3'
(R):5'- ACTCACATGGTGGTTCACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation