Incidental Mutation 'R9185:Col15a1'
| ID |
697294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 47288200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107731]
[ENSMUST00000140413]
[ENSMUST00000146967]
|
| AlphaFold |
O35206 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082303
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
| 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 benign
Transcript: ENSMUST00000102917
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
| 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 null
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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,177,421 (GRCm39) |
H312R |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,025,114 (GRCm39) |
F409S |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,215,004 (GRCm39) |
N1630I |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,064,137 (GRCm39) |
S800P |
probably damaging |
Het |
| Ccne1 |
A |
T |
7: 37,799,255 (GRCm39) |
S220T |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,443,668 (GRCm39) |
Y810C |
probably benign |
Het |
| Cercam |
T |
C |
2: 29,766,033 (GRCm39) |
V304A |
possibly damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,416 (GRCm39) |
T75A |
|
Het |
| Clcn4 |
T |
A |
7: 7,287,197 (GRCm39) |
I744F |
possibly damaging |
Het |
| Col27a1 |
A |
G |
4: 63,246,887 (GRCm39) |
N1670S |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,248,831 (GRCm39) |
R1186Q |
probably benign |
Het |
| Cr1l |
C |
A |
1: 194,797,053 (GRCm39) |
C328F |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,880,091 (GRCm39) |
T366S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,615,712 (GRCm39) |
S408T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,601,937 (GRCm39) |
S1992P |
probably benign |
Het |
| Glyatl3 |
A |
T |
17: 41,225,234 (GRCm39) |
V3E |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,908 (GRCm39) |
M343T |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,405,112 (GRCm39) |
D225G |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,628 (GRCm39) |
S42G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,883 (GRCm39) |
C2673R |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,337,975 (GRCm39) |
V2685I |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,165 (GRCm39) |
E908G |
probably damaging |
Het |
| Kcne1 |
A |
T |
16: 92,145,796 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Kcnk5 |
G |
T |
14: 20,195,135 (GRCm39) |
Y118* |
probably null |
Het |
| Kctd11 |
T |
C |
11: 69,770,676 (GRCm39) |
T121A |
possibly damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,260 (GRCm39) |
V414A |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,295,261 (GRCm39) |
S734P |
possibly damaging |
Het |
| Mrps26 |
T |
C |
2: 130,405,769 (GRCm39) |
V24A |
probably benign |
Het |
| Mug2 |
C |
G |
6: 122,054,442 (GRCm39) |
Q1074E |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,771,255 (GRCm39) |
S1P |
unknown |
Het |
| Ninj1 |
A |
T |
13: 49,344,726 (GRCm39) |
T81S |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,391,880 (GRCm39) |
H729L |
probably damaging |
Het |
| Nr1i3 |
G |
A |
1: 171,043,955 (GRCm39) |
V49I |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 103,810,095 (GRCm39) |
Q89* |
probably null |
Het |
| Or10ag52 |
A |
T |
2: 87,044,174 (GRCm39) |
T313S |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,754 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,501 (GRCm39) |
V163A |
probably benign |
Het |
| Or4e1 |
A |
G |
14: 52,700,984 (GRCm39) |
S161P |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or5aq6 |
A |
C |
2: 86,923,200 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,765 (GRCm39) |
T97S |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,404 (GRCm39) |
T231S |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,666,132 (GRCm39) |
T371S |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,453,019 (GRCm39) |
S3981R |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,934,526 (GRCm39) |
F1802L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,898 (GRCm39) |
N266S |
probably benign |
Het |
| Prcp |
A |
G |
7: 92,582,257 (GRCm39) |
H449R |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,532,212 (GRCm39) |
W1468R |
unknown |
Het |
| Rcvrn |
A |
G |
11: 67,586,480 (GRCm39) |
T80A |
possibly damaging |
Het |
| Rhou |
T |
C |
8: 124,387,793 (GRCm39) |
L175P |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,444,115 (GRCm39) |
S2054P |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,321,917 (GRCm39) |
S414P |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,227,906 (GRCm39) |
S429C |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,123,958 (GRCm39) |
|
probably benign |
Het |
| Smyd3 |
A |
G |
1: 178,877,854 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
A |
3: 107,535,530 (GRCm39) |
E64D |
probably damaging |
Het |
| Sumf2 |
T |
G |
5: 129,875,909 (GRCm39) |
C25G |
possibly damaging |
Het |
| Syngap1 |
A |
C |
17: 27,182,057 (GRCm39) |
D1190A |
possibly damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,118,099 (GRCm39) |
T77I |
probably benign |
Het |
| Tbce |
A |
T |
13: 14,173,027 (GRCm39) |
V468D |
probably damaging |
Het |
| Tmem191 |
G |
A |
16: 17,094,302 (GRCm39) |
R42H |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,633 (GRCm39) |
V72A |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,371,342 (GRCm39) |
F628C |
probably benign |
Het |
| Wsb2 |
G |
A |
5: 117,501,736 (GRCm39) |
V34M |
possibly damaging |
Het |
| Zfand6 |
A |
G |
7: 84,283,558 (GRCm39) |
S15P |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,873 (GRCm39) |
N158D |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,246,542 (GRCm39) |
Q177K |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,963,633 (GRCm39) |
M1V |
probably null |
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 |
|
|
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 |
|
|
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'- CTCCCTGAAGAGTCTAAAAGGAG -3'
(R):5'- GGTACAGTTGCTGTGAGAGC -3'
Sequencing Primer
(F):5'- TCTAAAAGGAGCATCTTTGAGAGGAC -3'
(R):5'- TGGCTGTCCCAGACACTTAAAGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation