Incidental Mutation 'R3742:Hoxc13'
| ID |
353162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxc13
|
| Ensembl Gene |
ENSMUSG00000001655 |
| Gene Name |
homeobox C13 |
| Synonyms |
N |
| MMRRC Submission |
040728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3742 (G1)
|
| Quality Score |
76 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102829566-102837249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102829873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 84
(G84D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001700]
|
| AlphaFold |
P50207 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001700
AA Change: G84D
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001700
Gene: ENSMUSG00000001655
AA Change: G84D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
50 |
N/A |
INTRINSIC |
|
Pfam:HoxA13_N
|
52 |
166 |
1.7e-38 |
PFAM |
|
HOX
|
258 |
320 |
6.12e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.0667 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit alopecia due to brittle hair, poor growth, abnormalities of caudal vertebrae, nails, and tongue filiform papillae, and lethality in the second week. Rare survivors recover, but lack hair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,982,938 (GRCm39) |
R3605M |
unknown |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,058 (GRCm39) |
T842S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,532,973 (GRCm39) |
Q388R |
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,234,090 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,930,104 (GRCm39) |
Y281D |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
A |
G |
17: 46,476,808 (GRCm39) |
T329A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,421 (GRCm39) |
T272A |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,213,812 (GRCm39) |
C22R |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,740,398 (GRCm39) |
S106R |
probably damaging |
Het |
| Mbd6 |
G |
A |
10: 127,120,812 (GRCm39) |
|
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,340 (GRCm39) |
I35V |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,258 (GRCm39) |
F255S |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,195 (GRCm39) |
I194F |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,979 (GRCm39) |
S239P |
possibly damaging |
Het |
| Pde4d |
T |
G |
13: 109,877,013 (GRCm39) |
V53G |
probably benign |
Het |
| Shisa9 |
G |
A |
16: 12,085,528 (GRCm39) |
R379Q |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
|
| Other mutations in Hoxc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02563:Hoxc13
|
APN |
15 |
102,830,233 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2125:Hoxc13
|
UTSW |
15 |
102,835,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Hoxc13
|
UTSW |
15 |
102,829,873 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3977:Hoxc13
|
UTSW |
15 |
102,829,675 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3978:Hoxc13
|
UTSW |
15 |
102,829,675 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6820:Hoxc13
|
UTSW |
15 |
102,830,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Hoxc13
|
UTSW |
15 |
102,829,903 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7719:Hoxc13
|
UTSW |
15 |
102,830,293 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8204:Hoxc13
|
UTSW |
15 |
102,835,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Hoxc13
|
UTSW |
15 |
102,830,051 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGATCATGTCATGACGACTTC -3'
(R):5'- TCTGCTGCAGGTTCACGTTG -3'
Sequencing Primer
(F):5'- CCTTATGTACGTCTATGAGGACAGC -3'
(R):5'- CAGGTTCACGTTGTGCGACAG -3'
|
| Posted On |
2015-10-19 |
Incidental Mutation