Incidental Mutation 'R5991:Col1a1'
| ID |
482021 |
| 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 |
044171-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94828745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
|
| AlphaFold |
P11087 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000001547
AA Change: V29A
|
| SMART Domains |
Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: V29A
| 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: ENSMUST00000139974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148593
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,777,032 (GRCm39) |
R683Q |
probably damaging |
Het |
| Adam8 |
T |
A |
7: 139,570,200 (GRCm39) |
H69L |
probably damaging |
Het |
| Bbs2 |
G |
T |
8: 94,824,914 (GRCm39) |
R23S |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,974,206 (GRCm39) |
C2369* |
probably null |
Het |
| Capn11 |
G |
T |
17: 45,970,278 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
G |
8: 106,418,023 (GRCm39) |
Q679R |
probably null |
Het |
| Cep120 |
T |
C |
18: 53,854,870 (GRCm39) |
I422V |
probably benign |
Het |
| Cnot7 |
A |
C |
8: 40,948,696 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
A |
T |
2: 164,596,100 (GRCm39) |
Q115L |
possibly damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,857,188 (GRCm39) |
V497A |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,532,667 (GRCm39) |
D1635G |
unknown |
Het |
| Ercc5 |
T |
A |
1: 44,219,990 (GRCm39) |
C1087* |
probably null |
Het |
| Fap |
A |
T |
2: 62,348,865 (GRCm39) |
M517K |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,319,256 (GRCm39) |
D1574E |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,820,812 (GRCm39) |
P5515L |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,319 (GRCm39) |
Y85H |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,896,117 (GRCm39) |
V1222A |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,268,328 (GRCm39) |
M546I |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,270,395 (GRCm39) |
N371D |
possibly damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,008,741 (GRCm39) |
Y1262H |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,209 (GRCm39) |
E83G |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,954,800 (GRCm39) |
|
probably null |
Het |
| Mtmr11 |
T |
A |
3: 96,075,905 (GRCm39) |
|
probably null |
Het |
| Myct1 |
A |
T |
10: 5,554,426 (GRCm39) |
R98* |
probably null |
Het |
| Nol11 |
T |
C |
11: 107,061,971 (GRCm39) |
T612A |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,507 (GRCm39) |
N293S |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,578 (GRCm39) |
K302* |
probably null |
Het |
| Or4c113 |
C |
T |
2: 88,885,126 (GRCm39) |
V215I |
probably benign |
Het |
| Or4f61 |
C |
T |
2: 111,922,960 (GRCm39) |
V29M |
probably benign |
Het |
| Or5m9 |
A |
G |
2: 85,877,254 (GRCm39) |
I143V |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,561 (GRCm39) |
S176P |
probably benign |
Het |
| Pdcd1lg2 |
C |
T |
19: 29,431,867 (GRCm39) |
R212W |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,576 (GRCm39) |
Y46C |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,526,820 (GRCm39) |
E1337K |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,804,035 (GRCm39) |
N584K |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,379,817 (GRCm39) |
V544A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,834,080 (GRCm39) |
T34M |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,443,790 (GRCm39) |
L270H |
probably damaging |
Het |
| Shoc2 |
T |
A |
19: 53,991,480 (GRCm39) |
N248K |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,385,818 (GRCm39) |
A28E |
probably benign |
Het |
| Slc25a4 |
T |
C |
8: 46,662,373 (GRCm39) |
Y95C |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,691,413 (GRCm39) |
N403S |
possibly damaging |
Het |
| Spink10 |
T |
A |
18: 62,790,956 (GRCm39) |
W7R |
probably null |
Het |
| Ssrp1 |
A |
G |
2: 84,872,640 (GRCm39) |
K426R |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,428,043 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
T |
17: 28,553,352 (GRCm39) |
|
probably null |
Het |
| Timd4 |
A |
G |
11: 46,734,030 (GRCm39) |
*344W |
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,339,312 (GRCm39) |
W115R |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,916,733 (GRCm39) |
T65I |
probably damaging |
Het |
| Vmn1r12 |
G |
C |
6: 57,136,640 (GRCm39) |
V202L |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,423 (GRCm39) |
T178A |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,002,266 (GRCm39) |
|
probably null |
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 |
|
|
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'- CAGACCTGCATTTAAGGATTTGAGG -3'
(R):5'- TCCCTTAACCCTAGGACCAG -3'
Sequencing Primer
(F):5'- TTTGAGGGAAGAATATAGGGAGTG -3'
(R):5'- TATTCTTCCGGGCAGAAAGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation