Incidental Mutation 'R5110:Col1a1'
ID |
393811 |
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 |
042698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5110 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 94832419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
[ENSMUST00000001547]
[ENSMUST00000001547]
|
AlphaFold |
P11087 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001547
|
SMART Domains |
Protein: ENSMUSP00000001547 Gene: ENSMUSG00000001506
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 |
probably null
Transcript: ENSMUST00000001547
|
SMART Domains |
Protein: ENSMUSP00000001547 Gene: ENSMUSG00000001506
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 |
probably null
Transcript: ENSMUST00000001547
|
SMART Domains |
Protein: ENSMUSP00000001547 Gene: ENSMUSG00000001506
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: ENSMUST00000148046
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148593
|
Meta Mutation Damage Score |
0.9496 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
100% (61/61) |
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 |
2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
Adam33 |
A |
T |
2: 130,895,690 (GRCm39) |
C542S |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
Syne3 |
G |
A |
12: 104,909,629 (GRCm39) |
R736C |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
Tshz2 |
A |
G |
2: 169,726,117 (GRCm39) |
T238A |
possibly damaging |
Het |
Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
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 |
|
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 |
|
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'- GCACTGCTGTAAGTACTCCTG -3'
(R):5'- GCCCATTGCCTATGACAATCATG -3'
Sequencing Primer
(F):5'- GCTGTAAGTACTCCTGCCCCC -3'
(R):5'- TGTTCAAAGAAAGAACGTGCCTC -3'
|
Posted On |
2016-06-15 |