Incidental Mutation 'IGL00834:Col1a1'
ID |
9810 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col1a1
|
Ensembl Gene |
ENSMUSG00000001506 |
Gene Name |
collagen, type I, alpha 1 |
Synonyms |
Mov-13, Cola1, Cola-1, Col1a-1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94840204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1084
(D1084G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
|
AlphaFold |
P11087 |
Predicted Effect |
unknown
Transcript: ENSMUST00000001547
AA Change: D1084G
|
SMART Domains |
Protein: ENSMUSP00000001547 Gene: ENSMUSG00000001506 AA Change: D1084G
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
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Col1a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2012-12-06 |