Incidental Mutation 'R5776:Col1a1'
| ID |
446713 |
| 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 |
043375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94840550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 1114
(S1114F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
|
| AlphaFold |
P11087 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000001547
AA Change: S1114F
|
| SMART Domains |
Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: S1114F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148046
|
| Meta Mutation Damage Score |
0.1575 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,107,649 (GRCm39) |
M378K |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,514,132 (GRCm39) |
V857A |
probably benign |
Het |
| Abca9 |
C |
T |
11: 109,998,286 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
C |
5: 8,177,361 (GRCm39) |
K583E |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,186 (GRCm39) |
F80L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,149 (GRCm39) |
I1511F |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,665 (GRCm39) |
E1811G |
possibly damaging |
Het |
| Cfh |
C |
A |
1: 140,071,761 (GRCm39) |
R291I |
possibly damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,956 (GRCm39) |
D168G |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,945,534 (GRCm39) |
D79G |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,083 (GRCm39) |
N629S |
possibly damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,002,469 (GRCm39) |
E204G |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,778 (GRCm39) |
V9L |
possibly damaging |
Het |
| Gfer |
G |
T |
17: 24,915,027 (GRCm39) |
S5R |
probably benign |
Het |
| Gm15931 |
A |
T |
7: 4,284,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
T |
A |
5: 146,105,691 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,828 (GRCm39) |
N234K |
possibly damaging |
Het |
| Hcn3 |
C |
T |
3: 89,055,412 (GRCm39) |
A612T |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,810,897 (GRCm39) |
E1679D |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,405 (GRCm39) |
L285P |
probably damaging |
Het |
| Igsf3 |
G |
A |
3: 101,332,796 (GRCm39) |
V25I |
probably benign |
Het |
| Jade1 |
A |
G |
3: 41,568,227 (GRCm39) |
H765R |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,963 (GRCm39) |
D25G |
unknown |
Het |
| Klhl3 |
A |
G |
13: 58,152,998 (GRCm39) |
S586P |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,569,072 (GRCm39) |
D582G |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,431,765 (GRCm39) |
C835Y |
probably damaging |
Het |
| Naa15 |
A |
C |
3: 51,367,447 (GRCm39) |
D490A |
probably damaging |
Het |
| Nab2 |
T |
A |
10: 127,500,198 (GRCm39) |
Y298F |
probably damaging |
Het |
| Nipsnap1 |
T |
A |
11: 4,838,919 (GRCm39) |
M115K |
probably benign |
Het |
| Nlrp5-ps |
T |
C |
7: 14,326,649 (GRCm39) |
|
noncoding transcript |
Het |
| Nol4l |
T |
G |
2: 153,259,741 (GRCm39) |
Q211P |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,760,363 (GRCm39) |
E265G |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Or6k14 |
A |
T |
1: 173,927,339 (GRCm39) |
H105L |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,409 (GRCm39) |
K2970E |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,983 (GRCm39) |
T683A |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,362,454 (GRCm39) |
D282G |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,576,901 (GRCm39) |
S10P |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,529,315 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,268,325 (GRCm39) |
V935A |
possibly damaging |
Het |
| Reg4 |
T |
A |
3: 98,140,344 (GRCm39) |
D108E |
possibly damaging |
Het |
| Saraf |
T |
A |
8: 34,632,604 (GRCm39) |
Y228N |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,984,137 (GRCm39) |
S357P |
probably damaging |
Het |
| Sec22b |
A |
T |
3: 97,821,884 (GRCm39) |
N139Y |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,398,823 (GRCm39) |
I1037F |
probably damaging |
Het |
| Skint5 |
A |
C |
4: 113,620,700 (GRCm39) |
S671R |
unknown |
Het |
| Slc38a3 |
C |
A |
9: 107,535,948 (GRCm39) |
E62* |
probably null |
Het |
| Slfn14 |
C |
T |
11: 83,174,425 (GRCm39) |
E189K |
probably damaging |
Het |
| Sox21 |
A |
G |
14: 118,472,656 (GRCm39) |
L131P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 6,999,393 (GRCm39) |
|
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Susd1 |
T |
C |
4: 59,315,363 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,005,689 (GRCm39) |
D498E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,165,532 (GRCm39) |
E1053K |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,692,211 (GRCm39) |
D103G |
probably damaging |
Het |
| Txndc15 |
A |
G |
13: 55,865,920 (GRCm39) |
E128G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,673 (GRCm39) |
W306R |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,342,121 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp641 |
T |
C |
15: 98,186,891 (GRCm39) |
D244G |
probably 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 |
|
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 |
|
|
R9656:Col1a1
|
UTSW |
11 |
94,839,372 (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'- ACCCTGATGCAGATCACATGG -3'
(R):5'- GGTCAAAGGTTCTGTAAGACCAAG -3'
Sequencing Primer
(F):5'- AGGGGGACACTTGCCTC -3'
(R):5'- GTTCTGTAAGACCAAGCTTCTTTTTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation