Incidental Mutation 'IGL01296:Crtac1'
| ID |
73139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crtac1
|
| Ensembl Gene |
ENSMUSG00000042401 |
| Gene Name |
cartilage acidic protein 1 |
| Synonyms |
Lotus, Crtac1B, 2810454P21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
IGL01296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42271474-42421405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42272652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 578
(C578S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048630]
|
| AlphaFold |
Q8R555 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048630
AA Change: C578S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: C578S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:VCBS
|
63 |
133 |
6.6e-12 |
PFAM |
|
Pfam:VCBS
|
254 |
311 |
2e-12 |
PFAM |
|
Pfam:VCBS
|
300 |
364 |
4.9e-13 |
PFAM |
|
low complexity region
|
403 |
417 |
N/A |
INTRINSIC |
|
Pfam:UnbV_ASPIC
|
459 |
528 |
8.9e-18 |
PFAM |
|
Pfam:EGF_CA
|
560 |
606 |
2.1e-13 |
PFAM |
|
low complexity region
|
630 |
646 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175493
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
| Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Fam20a |
A |
G |
11: 109,576,177 (GRCm39) |
I194T |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
| Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
| Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
| Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,443,932 (GRCm39) |
V324A |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,095 (GRCm39) |
K325E |
possibly damaging |
Het |
| Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
| Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
| Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
| Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,137 (GRCm39) |
I632V |
probably benign |
Het |
| Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
| Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
| Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
| Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
possibly damaging |
Het |
|
| Other mutations in Crtac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Crtac1
|
APN |
19 |
42,312,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Crtac1
|
APN |
19 |
42,402,560 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02811:Crtac1
|
APN |
19 |
42,322,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Crtac1
|
UTSW |
19 |
42,276,383 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2046:Crtac1
|
UTSW |
19 |
42,322,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Crtac1
|
UTSW |
19 |
42,312,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Crtac1
|
UTSW |
19 |
42,272,006 (GRCm39) |
missense |
unknown |
|
|
R2281:Crtac1
|
UTSW |
19 |
42,272,006 (GRCm39) |
missense |
unknown |
|
|
R3508:Crtac1
|
UTSW |
19 |
42,293,180 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3923:Crtac1
|
UTSW |
19 |
42,322,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Crtac1
|
UTSW |
19 |
42,293,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Crtac1
|
UTSW |
19 |
42,312,240 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4951:Crtac1
|
UTSW |
19 |
42,402,570 (GRCm39) |
missense |
probably benign |
|
|
R4965:Crtac1
|
UTSW |
19 |
42,307,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Crtac1
|
UTSW |
19 |
42,322,347 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5579:Crtac1
|
UTSW |
19 |
42,293,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Crtac1
|
UTSW |
19 |
42,402,390 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5739:Crtac1
|
UTSW |
19 |
42,290,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Crtac1
|
UTSW |
19 |
42,297,629 (GRCm39) |
splice site |
probably null |
|
|
R5936:Crtac1
|
UTSW |
19 |
42,312,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Crtac1
|
UTSW |
19 |
42,272,048 (GRCm39) |
missense |
unknown |
|
|
R6193:Crtac1
|
UTSW |
19 |
42,312,236 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6858:Crtac1
|
UTSW |
19 |
42,307,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7246:Crtac1
|
UTSW |
19 |
42,276,365 (GRCm39) |
missense |
probably benign |
|
|
R7726:Crtac1
|
UTSW |
19 |
42,290,690 (GRCm39) |
nonsense |
probably null |
|
|
R7991:Crtac1
|
UTSW |
19 |
42,322,399 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8046:Crtac1
|
UTSW |
19 |
42,297,492 (GRCm39) |
splice site |
probably benign |
|
|
R8071:Crtac1
|
UTSW |
19 |
42,286,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Crtac1
|
UTSW |
19 |
42,297,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Crtac1
|
UTSW |
19 |
42,297,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Crtac1
|
UTSW |
19 |
42,286,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Crtac1
|
UTSW |
19 |
42,402,557 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0018:Crtac1
|
UTSW |
19 |
42,297,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Crtac1
|
UTSW |
19 |
42,276,365 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation