Incidental Mutation 'R3904:Col6a1'
| ID |
309107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a1
|
| Ensembl Gene |
ENSMUSG00000001119 |
| Gene Name |
collagen, type VI, alpha 1 |
| Synonyms |
Col6a-1 |
| MMRRC Submission |
040812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R3904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76544626-76561878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76547175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 730
(R730H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001147]
|
| AlphaFold |
Q04857 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000001147
AA Change: R730H
|
| SMART Domains |
Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: R730H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
VWA
|
34 |
232 |
9.55e-29 |
SMART |
|
Pfam:Collagen
|
252 |
312 |
5.6e-11 |
PFAM |
|
Pfam:Collagen
|
292 |
367 |
2e-9 |
PFAM |
|
Pfam:Collagen
|
345 |
423 |
3.6e-8 |
PFAM |
|
Pfam:Collagen
|
448 |
515 |
1.1e-8 |
PFAM |
|
Pfam:Collagen
|
499 |
563 |
1.9e-9 |
PFAM |
|
low complexity region
|
571 |
590 |
N/A |
INTRINSIC |
|
VWA
|
612 |
798 |
8.57e-31 |
SMART |
|
VWA
|
824 |
1005 |
2.6e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137599
|
| Meta Mutation Damage Score |
0.2736 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(5)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
| 5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
| Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
| Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
| Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
| Jsrp1 |
T |
A |
10: 80,648,246 (GRCm39) |
M1L |
probably benign |
Het |
| Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm3 |
A |
G |
11: 76,135,112 (GRCm39) |
M108V |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Pcgf5 |
T |
C |
19: 36,417,495 (GRCm39) |
I140T |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
| Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
| Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
| Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Shld2 |
A |
G |
14: 33,981,666 (GRCm39) |
W491R |
probably damaging |
Het |
| Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
| Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
| Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
| Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
probably null |
Het |
|
| Other mutations in Col6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Col6a1
|
APN |
10 |
76,546,813 (GRCm39) |
missense |
unknown |
|
|
IGL01943:Col6a1
|
APN |
10 |
76,554,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02178:Col6a1
|
APN |
10 |
76,546,909 (GRCm39) |
missense |
unknown |
|
|
IGL02928:Col6a1
|
APN |
10 |
76,545,500 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03162:Col6a1
|
APN |
10 |
76,553,885 (GRCm39) |
splice site |
probably benign |
|
|
P0005:Col6a1
|
UTSW |
10 |
76,553,163 (GRCm39) |
splice site |
probably benign |
|
|
R0398:Col6a1
|
UTSW |
10 |
76,545,952 (GRCm39) |
missense |
unknown |
|
|
R0631:Col6a1
|
UTSW |
10 |
76,545,569 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0698:Col6a1
|
UTSW |
10 |
76,552,114 (GRCm39) |
missense |
unknown |
|
|
R0699:Col6a1
|
UTSW |
10 |
76,552,114 (GRCm39) |
missense |
unknown |
|
|
R0848:Col6a1
|
UTSW |
10 |
76,549,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1053:Col6a1
|
UTSW |
10 |
76,556,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1235:Col6a1
|
UTSW |
10 |
76,548,158 (GRCm39) |
missense |
unknown |
|
|
R1480:Col6a1
|
UTSW |
10 |
76,545,752 (GRCm39) |
missense |
unknown |
|
|
R1854:Col6a1
|
UTSW |
10 |
76,557,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Col6a1
|
UTSW |
10 |
76,557,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Col6a1
|
UTSW |
10 |
76,545,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2122:Col6a1
|
UTSW |
10 |
76,557,332 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2411:Col6a1
|
UTSW |
10 |
76,546,922 (GRCm39) |
missense |
unknown |
|
|
R3236:Col6a1
|
UTSW |
10 |
76,547,154 (GRCm39) |
missense |
unknown |
|
|
R3417:Col6a1
|
UTSW |
10 |
76,548,203 (GRCm39) |
missense |
unknown |
|
|
R3832:Col6a1
|
UTSW |
10 |
76,546,951 (GRCm39) |
missense |
unknown |
|
|
R3843:Col6a1
|
UTSW |
10 |
76,547,175 (GRCm39) |
missense |
unknown |
|
|
R3903:Col6a1
|
UTSW |
10 |
76,547,175 (GRCm39) |
missense |
unknown |
|
|
R4409:Col6a1
|
UTSW |
10 |
76,557,334 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4418:Col6a1
|
UTSW |
10 |
76,554,239 (GRCm39) |
nonsense |
probably null |
|
|
R4568:Col6a1
|
UTSW |
10 |
76,555,031 (GRCm39) |
intron |
probably benign |
|
|
R4579:Col6a1
|
UTSW |
10 |
76,547,191 (GRCm39) |
missense |
unknown |
|
|
R4661:Col6a1
|
UTSW |
10 |
76,550,506 (GRCm39) |
missense |
unknown |
|
|
R4945:Col6a1
|
UTSW |
10 |
76,548,106 (GRCm39) |
missense |
unknown |
|
|
R4958:Col6a1
|
UTSW |
10 |
76,559,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Col6a1
|
UTSW |
10 |
76,545,740 (GRCm39) |
missense |
unknown |
|
|
R5440:Col6a1
|
UTSW |
10 |
76,559,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Col6a1
|
UTSW |
10 |
76,554,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6030:Col6a1
|
UTSW |
10 |
76,545,700 (GRCm39) |
missense |
unknown |
|
|
R6030:Col6a1
|
UTSW |
10 |
76,545,700 (GRCm39) |
missense |
unknown |
|
|
R6366:Col6a1
|
UTSW |
10 |
76,546,804 (GRCm39) |
missense |
unknown |
|
|
R6435:Col6a1
|
UTSW |
10 |
76,546,957 (GRCm39) |
missense |
unknown |
|
|
R6718:Col6a1
|
UTSW |
10 |
76,560,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Col6a1
|
UTSW |
10 |
76,557,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Col6a1
|
UTSW |
10 |
76,560,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Col6a1
|
UTSW |
10 |
76,546,175 (GRCm39) |
splice site |
probably null |
|
|
R7183:Col6a1
|
UTSW |
10 |
76,552,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7244:Col6a1
|
UTSW |
10 |
76,553,242 (GRCm39) |
nonsense |
probably null |
|
|
R7625:Col6a1
|
UTSW |
10 |
76,549,760 (GRCm39) |
missense |
unknown |
|
|
R7741:Col6a1
|
UTSW |
10 |
76,545,743 (GRCm39) |
missense |
unknown |
|
|
R7774:Col6a1
|
UTSW |
10 |
76,545,710 (GRCm39) |
missense |
unknown |
|
|
R7834:Col6a1
|
UTSW |
10 |
76,545,762 (GRCm39) |
missense |
unknown |
|
|
R8145:Col6a1
|
UTSW |
10 |
76,559,305 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8177:Col6a1
|
UTSW |
10 |
76,560,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Col6a1
|
UTSW |
10 |
76,552,593 (GRCm39) |
missense |
unknown |
|
|
R9060:Col6a1
|
UTSW |
10 |
76,557,711 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9411:Col6a1
|
UTSW |
10 |
76,547,487 (GRCm39) |
missense |
unknown |
|
|
RF019:Col6a1
|
UTSW |
10 |
76,547,449 (GRCm39) |
missense |
unknown |
|
|
X0010:Col6a1
|
UTSW |
10 |
76,559,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Col6a1
|
UTSW |
10 |
76,545,809 (GRCm39) |
missense |
unknown |
|
|
Z1088:Col6a1
|
UTSW |
10 |
76,545,393 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTGATCCTGGACTTCC -3'
(R):5'- GTAAGAGCATCCCCAAGATCTC -3'
Sequencing Primer
(F):5'- GGACTTCCCCTCCCCTGG -3'
(R):5'- ATTCCCAGGCCTCTAGCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation