Incidental Mutation 'IGL01418:Hoxc9'
| ID |
278476 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hoxc9
|
| Ensembl Gene |
ENSMUSG00000036139 |
| Gene Name |
homeobox C9 |
| Synonyms |
Hox-3.2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
102885467-102893324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102892432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 215
(M215K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001706]
[ENSMUST00000173306]
|
| AlphaFold |
P09633 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001706
AA Change: M215K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001706
Gene: ENSMUSG00000036139
AA Change: M215K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hox9_act
|
1 |
179 |
2e-63 |
PFAM |
|
HOX
|
192 |
254 |
8.84e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174869
|
| Meta Mutation Damage Score |
0.3463 |
| 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 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene grow more slowly than normal and develop hunched backs. Forward transformations seen in vertebrae from L1 and forward to around T10. Abnormalities in the sternum and ribs attachments to the sternum are also seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,655 (GRCm39) |
H190L |
probably benign |
Het |
| Apoo-ps |
T |
A |
13: 107,551,032 (GRCm39) |
|
noncoding transcript |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,479,524 (GRCm39) |
A214T |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,960,124 (GRCm39) |
E153G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,288,852 (GRCm39) |
V3374I |
probably benign |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,217 (GRCm39) |
W1126* |
probably null |
Het |
| E130311K13Rik |
A |
C |
3: 63,827,683 (GRCm39) |
L141R |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,440 (GRCm39) |
K451R |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,768,241 (GRCm39) |
C585S |
possibly damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,316,585 (GRCm39) |
|
probably null |
Het |
| Lactb |
T |
C |
9: 66,875,045 (GRCm39) |
D349G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,355,630 (GRCm39) |
V405I |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,568,338 (GRCm39) |
I1461K |
unknown |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Nek5 |
A |
C |
8: 22,585,285 (GRCm39) |
I364S |
probably damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,026,552 (GRCm39) |
M476L |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,810 (GRCm39) |
V105A |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,984 (GRCm39) |
E173G |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,809 (GRCm39) |
V158A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Phf10 |
C |
A |
17: 15,165,396 (GRCm39) |
V487L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Slc5a8 |
G |
T |
10: 88,740,895 (GRCm39) |
C270F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,895,462 (GRCm39) |
D448G |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,493,237 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hoxc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Hoxc9
|
APN |
15 |
102,892,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Hoxc9
|
APN |
15 |
102,892,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Hoxc9
|
UTSW |
15 |
102,892,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Hoxc9
|
UTSW |
15 |
102,890,304 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2059:Hoxc9
|
UTSW |
15 |
102,892,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2414:Hoxc9
|
UTSW |
15 |
102,892,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2900:Hoxc9
|
UTSW |
15 |
102,890,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3807:Hoxc9
|
UTSW |
15 |
102,890,116 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3821:Hoxc9
|
UTSW |
15 |
102,890,596 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4824:Hoxc9
|
UTSW |
15 |
102,890,225 (GRCm39) |
nonsense |
probably null |
|
|
R5165:Hoxc9
|
UTSW |
15 |
102,892,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Hoxc9
|
UTSW |
15 |
102,890,313 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5701:Hoxc9
|
UTSW |
15 |
102,890,313 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6003:Hoxc9
|
UTSW |
15 |
102,890,311 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6145:Hoxc9
|
UTSW |
15 |
102,892,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6570:Hoxc9
|
UTSW |
15 |
102,890,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7312:Hoxc9
|
UTSW |
15 |
102,890,593 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7434:Hoxc9
|
UTSW |
15 |
102,892,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Hoxc9
|
UTSW |
15 |
102,890,551 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8519:Hoxc9
|
UTSW |
15 |
102,892,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Hoxc9
|
UTSW |
15 |
102,890,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9705:Hoxc9
|
UTSW |
15 |
102,890,362 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9717:Hoxc9
|
UTSW |
15 |
102,890,551 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2015-04-16 |
Incidental Mutation