Incidental Mutation 'IGL03390:Cthrc1'
| ID |
421039 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cthrc1
|
| Ensembl Gene |
ENSMUSG00000054196 |
| Gene Name |
collagen triple helix repeat containing 1 |
| Synonyms |
1110014B07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38940327-38950516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38940529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 44
(I44N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067072]
[ENSMUST00000226433]
|
| AlphaFold |
Q9D1D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067072
AA Change: I44N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: I44N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132192
AA Change: I18N
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226433
AA Change: I44N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Adult mice homozygous for a null allele exhibit decreased bone, decreased osteoblast number and decreased bone formation. Mice homozygous for a different knock-out allele exhibit increased hepatocyte size, decreased cell density in the liver, hepatic steatosis and increased glycogen storage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
| Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
| Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,477,820 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,642,987 (GRCm39) |
D507G |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
| Rimklb |
C |
T |
6: 122,433,280 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
| Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
| Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,463 (GRCm39) |
K432E |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
| Zbtb6 |
T |
G |
2: 37,319,584 (GRCm39) |
I115L |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
Het |
|
| Other mutations in Cthrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Cthrc1
|
APN |
15 |
38,943,894 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02532:Cthrc1
|
APN |
15 |
38,940,560 (GRCm39) |
splice site |
probably benign |
|
|
IGL02954:Cthrc1
|
APN |
15 |
38,940,389 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0390:Cthrc1
|
UTSW |
15 |
38,950,159 (GRCm39) |
makesense |
probably null |
|
|
R0594:Cthrc1
|
UTSW |
15 |
38,940,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1491:Cthrc1
|
UTSW |
15 |
38,950,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Cthrc1
|
UTSW |
15 |
38,940,408 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5096:Cthrc1
|
UTSW |
15 |
38,947,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5860:Cthrc1
|
UTSW |
15 |
38,950,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Cthrc1
|
UTSW |
15 |
38,940,495 (GRCm39) |
missense |
probably benign |
|
|
R7717:Cthrc1
|
UTSW |
15 |
38,940,511 (GRCm39) |
missense |
probably benign |
|
|
R7983:Cthrc1
|
UTSW |
15 |
38,940,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Cthrc1
|
UTSW |
15 |
38,947,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Cthrc1
|
UTSW |
15 |
38,947,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Cthrc1
|
UTSW |
15 |
38,940,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9449:Cthrc1
|
UTSW |
15 |
38,947,868 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9467:Cthrc1
|
UTSW |
15 |
38,947,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9625:Cthrc1
|
UTSW |
15 |
38,947,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation