Incidental Mutation 'R2386:Col1a1'
| ID |
247707 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94827050-94843868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94841217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1200
(D1200V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001547]
|
| AlphaFold |
P11087 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000001547
AA Change: D1200V
|
| SMART Domains |
Protein: ENSMUSP00000001547
Gene: ENSMUSG00000001506
AA Change: D1200V
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACGGACTCAACGGTCTC -3'
(R):5'- AGTGGCACATCTTGAGGTC -3'
Sequencing Primer
(F):5'- GCTGTATGTAGCCCCACATC -3'
(R):5'- CATCTTGAGGTCGCGGCATG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation