Incidental Mutation 'R9656:Col1a1'
| ID |
727340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col1a1
|
| Ensembl Gene |
ENSMUSG00000001506 |
| Gene Name |
collagen, type I, alpha 1 |
| Synonyms |
Mov-13, Cola1, Cola-1, Col1a-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94839372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1006
(S1006T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
|
| AlphaFold |
P11087 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000001547
AA Change: S1006T
|
| SMART Domains |
Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: S1006T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
VWC
|
31 |
86 |
1.04e-16 |
SMART |
|
Pfam:Collagen
|
97 |
154 |
1.1e-9 |
PFAM |
|
Pfam:Collagen
|
166 |
227 |
7e-10 |
PFAM |
|
Pfam:Collagen
|
225 |
284 |
2.4e-13 |
PFAM |
|
Pfam:Collagen
|
285 |
344 |
5.9e-12 |
PFAM |
|
low complexity region
|
354 |
426 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
427 |
444 |
4.93e-7 |
PROSPERO |
|
low complexity region
|
447 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
567 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
570 |
588 |
1.25e-9 |
PROSPERO |
|
low complexity region
|
590 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
651 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
652 |
675 |
6.29e-11 |
PROSPERO |
|
internal_repeat_4
|
658 |
675 |
4.93e-7 |
PROSPERO |
|
low complexity region
|
678 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
717 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
718 |
738 |
2.08e-10 |
PROSPERO |
|
internal_repeat_1
|
718 |
741 |
6.29e-11 |
PROSPERO |
|
internal_repeat_3
|
726 |
744 |
1.25e-9 |
PROSPERO |
|
internal_repeat_5
|
737 |
752 |
9.8e-6 |
PROSPERO |
|
Pfam:Collagen
|
768 |
827 |
2.8e-12 |
PFAM |
|
Pfam:Collagen
|
828 |
887 |
6.8e-11 |
PFAM |
|
internal_repeat_5
|
944 |
959 |
9.8e-6 |
PROSPERO |
|
internal_repeat_2
|
952 |
972 |
2.08e-10 |
PROSPERO |
|
Pfam:Collagen
|
1008 |
1077 |
4.8e-8 |
PFAM |
|
Pfam:Collagen
|
1068 |
1127 |
1.2e-12 |
PFAM |
|
Pfam:Collagen
|
1122 |
1184 |
2.8e-9 |
PFAM |
|
PDB:3HR2|C
|
1185 |
1205 |
6e-6 |
PDB |
|
COLFI
|
1217 |
1453 |
2.04e-162 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(46) : Targeted(40) Gene trapped(3) Transgenic(1) Chemically induced(2)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
G |
A |
8: 10,037,991 (GRCm39) |
G196E |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,922,061 (GRCm39) |
T635I |
possibly damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,545 (GRCm39) |
N219K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,994,407 (GRCm39) |
T623S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,857,318 (GRCm39) |
L364P |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,985 (GRCm39) |
D164G |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,235,816 (GRCm39) |
M631K |
|
Het |
| Cpe |
T |
C |
8: 65,047,980 (GRCm39) |
Y428C |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,677,059 (GRCm39) |
V122L |
probably benign |
Het |
| Fam114a1 |
T |
C |
5: 65,163,246 (GRCm39) |
I181T |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,452,863 (GRCm39) |
V68A |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,031,482 (GRCm39) |
V403G |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,397,471 (GRCm39) |
H872R |
possibly damaging |
Het |
| Grpel2 |
G |
T |
18: 61,859,361 (GRCm39) |
R4S |
probably benign |
Het |
| Gstm1 |
T |
C |
3: 107,925,072 (GRCm39) |
Y7C |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,547,545 (GRCm39) |
I497F |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,279,196 (GRCm39) |
V3093A |
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,295 (GRCm39) |
F99I |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,299,839 (GRCm39) |
M963V |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,471 (GRCm39) |
E263G |
|
Het |
| L1td1 |
T |
C |
4: 98,622,223 (GRCm39) |
F262L |
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,158 (GRCm39) |
H110R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,274,846 (GRCm39) |
I135T |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,830,766 (GRCm39) |
R695H |
probably damaging |
Het |
| Nkx1-2 |
T |
A |
7: 132,201,228 (GRCm39) |
K10* |
probably null |
Het |
| Or2t44 |
G |
A |
11: 58,677,635 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,122,633 (GRCm39) |
T7S |
probably benign |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,035 (GRCm39) |
H129R |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,247 (GRCm39) |
Y36C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,567 (GRCm39) |
T719A |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,818 (GRCm39) |
I3216M |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,187 (GRCm39) |
D252G |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,590 (GRCm39) |
Y332* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,940,121 (GRCm39) |
D50E |
unknown |
Het |
| Rbm6 |
G |
A |
9: 107,656,778 (GRCm39) |
R1000W |
probably damaging |
Het |
| Rd3l |
A |
T |
12: 111,946,614 (GRCm39) |
V54E |
possibly damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,714 (GRCm39) |
V370A |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,709,679 (GRCm39) |
I449M |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,112,264 (GRCm39) |
S117T |
possibly damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,968,144 (GRCm39) |
Y370C |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,391 (GRCm39) |
V85L |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,635,715 (GRCm39) |
V95E |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,758 (GRCm39) |
N130I |
possibly damaging |
Het |
| Spmip2 |
T |
A |
3: 79,313,183 (GRCm39) |
F86I |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,412,525 (GRCm39) |
S521G |
probably damaging |
Het |
| Tbc1d13 |
C |
T |
2: 30,032,429 (GRCm39) |
T180I |
possibly damaging |
Het |
| Tgm7 |
G |
A |
2: 120,940,191 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,664,459 (GRCm39) |
M583T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn1r43 |
A |
T |
6: 89,847,440 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,417 (GRCm39) |
V369E |
probably damaging |
Het |
| Zfp467 |
T |
A |
6: 48,419,603 (GRCm39) |
E35V |
possibly damaging |
Het |
|
| Other mutations in Col1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Col1a1
|
APN |
11 |
94,840,204 (GRCm39) |
missense |
unknown |
|
|
IGL01383:Col1a1
|
APN |
11 |
94,836,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01717:Col1a1
|
APN |
11 |
94,841,603 (GRCm39) |
missense |
unknown |
|
|
IGL02889:Col1a1
|
APN |
11 |
94,842,335 (GRCm39) |
missense |
unknown |
|
|
seal
|
UTSW |
11 |
94,838,009 (GRCm39) |
splice site |
probably benign |
|
|
walrus
|
UTSW |
11 |
94,833,211 (GRCm39) |
missense |
unknown |
|
|
R0121:Col1a1
|
UTSW |
11 |
94,828,895 (GRCm39) |
missense |
unknown |
|
|
R0400:Col1a1
|
UTSW |
11 |
94,832,195 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Col1a1
|
UTSW |
11 |
94,842,420 (GRCm39) |
missense |
unknown |
|
|
R0661:Col1a1
|
UTSW |
11 |
94,840,215 (GRCm39) |
missense |
unknown |
|
|
R1220:Col1a1
|
UTSW |
11 |
94,841,957 (GRCm39) |
missense |
unknown |
|
|
R1717:Col1a1
|
UTSW |
11 |
94,839,218 (GRCm39) |
missense |
unknown |
|
|
R1732:Col1a1
|
UTSW |
11 |
94,835,241 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Col1a1
|
UTSW |
11 |
94,842,051 (GRCm39) |
missense |
unknown |
|
|
R1880:Col1a1
|
UTSW |
11 |
94,841,394 (GRCm39) |
missense |
unknown |
|
|
R1901:Col1a1
|
UTSW |
11 |
94,837,458 (GRCm39) |
splice site |
probably null |
|
|
R2113:Col1a1
|
UTSW |
11 |
94,839,188 (GRCm39) |
missense |
unknown |
|
|
R2386:Col1a1
|
UTSW |
11 |
94,841,217 (GRCm39) |
missense |
unknown |
|
|
R3803:Col1a1
|
UTSW |
11 |
94,828,895 (GRCm39) |
missense |
unknown |
|
|
R4839:Col1a1
|
UTSW |
11 |
94,840,921 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4936:Col1a1
|
UTSW |
11 |
94,837,958 (GRCm39) |
missense |
unknown |
|
|
R5081:Col1a1
|
UTSW |
11 |
94,842,402 (GRCm39) |
missense |
unknown |
|
|
R5105:Col1a1
|
UTSW |
11 |
94,833,211 (GRCm39) |
missense |
unknown |
|
|
R5110:Col1a1
|
UTSW |
11 |
94,832,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5247:Col1a1
|
UTSW |
11 |
94,838,013 (GRCm39) |
splice site |
probably null |
|
|
R5773:Col1a1
|
UTSW |
11 |
94,830,255 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5776:Col1a1
|
UTSW |
11 |
94,840,550 (GRCm39) |
missense |
unknown |
|
|
R5991:Col1a1
|
UTSW |
11 |
94,828,745 (GRCm39) |
missense |
unknown |
|
|
R6415:Col1a1
|
UTSW |
11 |
94,830,986 (GRCm39) |
missense |
unknown |
|
|
R6483:Col1a1
|
UTSW |
11 |
94,833,444 (GRCm39) |
splice site |
probably null |
|
|
R7207:Col1a1
|
UTSW |
11 |
94,829,352 (GRCm39) |
missense |
unknown |
|
|
R7853:Col1a1
|
UTSW |
11 |
94,838,505 (GRCm39) |
missense |
unknown |
|
|
R8219:Col1a1
|
UTSW |
11 |
94,834,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Col1a1
|
UTSW |
11 |
94,836,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8751:Col1a1
|
UTSW |
11 |
94,838,100 (GRCm39) |
missense |
unknown |
|
|
R8787:Col1a1
|
UTSW |
11 |
94,833,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9278:Col1a1
|
UTSW |
11 |
94,838,103 (GRCm39) |
missense |
unknown |
|
|
R9662:Col1a1
|
UTSW |
11 |
94,836,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF007:Col1a1
|
UTSW |
11 |
94,833,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col1a1
|
UTSW |
11 |
94,834,630 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCAAGTGGTGAACGCG -3'
(R):5'- ACGATCGCCATTCTTGCCAG -3'
Sequencing Primer
(F):5'- AAGTGGTGAACGCGGTCCC -3'
(R):5'- ATTCTTGCCAGCGGGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation