Incidental Mutation 'R8887:Col15a1'
| ID |
677385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
068752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8887 (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 G
at 47287091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 843
(Q843R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107731]
[ENSMUST00000140413]
[ENSMUST00000146967]
|
| AlphaFold |
O35206 |
| PDB Structure |
MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082303
AA Change: Q821R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: Q821R
| 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 |
probably damaging
Transcript: ENSMUST00000102917
AA Change: Q843R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: Q843R
| 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: ENSMUST00000107731
|
| SMART Domains |
Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140413
|
| SMART Domains |
Protein: ENSMUSP00000119292
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
27 |
121 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146967
|
| SMART Domains |
Protein: ENSMUSP00000118637
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
2 |
55 |
6.3e-11 |
PFAM |
|
Pfam:Collagen
|
96 |
141 |
2.9e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (93/95) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
T |
C |
17: 57,175,285 (GRCm39) |
T76A |
probably benign |
Het |
| Actn1 |
A |
G |
12: 80,215,197 (GRCm39) |
C860R |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,554,744 (GRCm39) |
L170Q |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,116,401 (GRCm39) |
R1620* |
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,848,525 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,870,298 (GRCm39) |
S476P |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,401 (GRCm39) |
T162A |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,113,222 (GRCm39) |
Q487R |
probably null |
Het |
| BC048507 |
T |
A |
13: 68,011,628 (GRCm39) |
C2S |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,087,503 (GRCm39) |
A615S |
possibly damaging |
Het |
| Bnc2 |
A |
C |
4: 84,209,707 (GRCm39) |
|
probably benign |
Het |
| Bop1 |
C |
T |
15: 76,338,524 (GRCm39) |
G473R |
probably damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,258,894 (GRCm39) |
V1201A |
possibly damaging |
Het |
| Cecr2 |
C |
A |
6: 120,715,162 (GRCm39) |
T249K |
probably damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,790,810 (GRCm39) |
G421* |
probably null |
Het |
| Clec1b |
A |
T |
6: 129,378,703 (GRCm39) |
|
probably null |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,948 (GRCm39) |
S114G |
probably benign |
Het |
| Corin |
A |
T |
5: 72,486,953 (GRCm39) |
|
probably null |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,503 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,229,270 (GRCm39) |
L51P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,673,989 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,051,481 (GRCm39) |
V299E |
probably benign |
Het |
| Dlgap2 |
G |
A |
8: 14,229,682 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,032,997 (GRCm39) |
L346P |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,210 (GRCm39) |
T3968A |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,120,044 (GRCm39) |
M822R |
probably null |
Het |
| E2f7 |
A |
T |
10: 110,610,674 (GRCm39) |
Q433L |
probably benign |
Het |
| Eif3k |
A |
C |
7: 28,679,901 (GRCm39) |
Y42* |
probably null |
Het |
| Elmod3 |
A |
G |
6: 72,563,494 (GRCm39) |
S45P |
probably damaging |
Het |
| Emilin3 |
C |
A |
2: 160,751,108 (GRCm39) |
V214F |
possibly damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,887 (GRCm39) |
F283L |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,876,549 (GRCm39) |
Y358H |
|
Het |
| G430095P16Rik |
A |
G |
8: 85,453,043 (GRCm39) |
N10S |
unknown |
Het |
| Gldc |
A |
G |
19: 30,111,156 (GRCm39) |
V540A |
possibly damaging |
Het |
| Gm3667 |
T |
A |
14: 18,271,553 (GRCm39) |
E67D |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,353,626 (GRCm39) |
|
probably benign |
Het |
| H60c |
T |
C |
10: 3,217,255 (GRCm39) |
E38G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,433,541 (GRCm39) |
D952G |
probably benign |
Het |
| Hoxb8 |
T |
A |
11: 96,175,223 (GRCm39) |
L220Q |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,050 (GRCm39) |
L1679M |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,802,480 (GRCm39) |
Y118F |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,868,880 (GRCm39) |
T456S |
probably benign |
Het |
| Ighg3 |
G |
A |
12: 113,323,845 (GRCm39) |
T181I |
|
Het |
| Ighv1-66 |
C |
A |
12: 115,557,032 (GRCm39) |
V17F |
probably damaging |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,130 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ints12 |
T |
A |
3: 132,815,003 (GRCm39) |
N403K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
C |
16: 34,047,496 (GRCm39) |
N908K |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,962,016 (GRCm39) |
V20I |
unknown |
Het |
| Krt78 |
G |
T |
15: 101,861,746 (GRCm39) |
L167M |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,023,294 (GRCm39) |
E206G |
probably damaging |
Het |
| Lig1 |
A |
G |
7: 13,030,713 (GRCm39) |
Y455C |
probably damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,486,077 (GRCm39) |
I34S |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,454,758 (GRCm39) |
I1216T |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,706,800 (GRCm39) |
V229A |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,745,526 (GRCm39) |
|
probably null |
Het |
| Mroh1 |
A |
G |
15: 76,331,474 (GRCm39) |
T1233A |
probably benign |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,271 (GRCm39) |
H234Q |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,175,665 (GRCm39) |
P549S |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,624,642 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,852,269 (GRCm39) |
V47A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,846 (GRCm39) |
V199D |
possibly damaging |
Het |
| Or5w22 |
A |
G |
2: 87,363,187 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,372 (GRCm39) |
Y179* |
probably null |
Het |
| Padi3 |
A |
T |
4: 140,523,795 (GRCm39) |
C228* |
probably null |
Het |
| Palld |
T |
A |
8: 61,986,512 (GRCm39) |
D1015V |
unknown |
Het |
| Pcna-ps2 |
A |
T |
19: 9,261,488 (GRCm39) |
Y249F |
probably benign |
Het |
| Pelo |
C |
T |
13: 115,225,451 (GRCm39) |
C258Y |
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,803,430 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,539,257 (GRCm39) |
F79L |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,771 (GRCm39) |
W840R |
probably damaging |
Het |
| Prkcg |
A |
G |
7: 3,370,857 (GRCm39) |
D428G |
possibly damaging |
Het |
| Pus7 |
G |
A |
5: 23,948,476 (GRCm39) |
R571* |
probably null |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,927 (GRCm39) |
C409R |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,434,522 (GRCm39) |
D186G |
probably damaging |
Het |
| Rslcan18 |
T |
A |
13: 67,246,793 (GRCm39) |
H273L |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,559,289 (GRCm39) |
|
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,540 (GRCm39) |
|
probably null |
Het |
| Siglecg |
T |
A |
7: 43,058,008 (GRCm39) |
S9T |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,139,258 (GRCm39) |
F159L |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,758,009 (GRCm39) |
I183V |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,110 (GRCm39) |
M103V |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,187,059 (GRCm39) |
D42G |
possibly damaging |
Het |
| Tlr5 |
C |
A |
1: 182,801,332 (GRCm39) |
T212K |
probably benign |
Het |
| Trim43b |
T |
G |
9: 88,969,642 (GRCm39) |
I269L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,047,492 (GRCm39) |
L697P |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,549,239 (GRCm39) |
T31813P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,571,932 (GRCm39) |
D26320E |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,307,061 (GRCm39) |
|
probably null |
Het |
| Usp1 |
C |
G |
4: 98,819,185 (GRCm39) |
Q216E |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,026 (GRCm39) |
T645A |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,599,850 (GRCm39) |
P559H |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,056,315 (GRCm39) |
Y247C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,219 (GRCm39) |
N163K |
probably 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 |
|
R7201:Col15a1
|
UTSW |
4 |
47,307,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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'- GAGCTTGTTCTGAGAGAGGC -3'
(R):5'- GTGAAAAGGCACAGCACTTCTTC -3'
Sequencing Primer
(F):5'- CTTGGGGGAGCGACAGAGAC -3'
(R):5'- TTAAGCACACTGGGCTGCTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation