Incidental Mutation 'R6570:Hoxc9'
| ID |
526217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxc9
|
| Ensembl Gene |
ENSMUSG00000036139 |
| Gene Name |
homeobox C9 |
| Synonyms |
Hox-3.2 |
| MMRRC Submission |
044694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6570 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102885467-102893324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102890185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 34
(H34L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001706]
[ENSMUST00000173306]
|
| AlphaFold |
P09633 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001706
AA Change: H34L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000001706
Gene: ENSMUSG00000036139
AA Change: H34L
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
| Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
| Exd1 |
T |
C |
2: 119,350,654 (GRCm39) |
T536A |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
| Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,371,855 (GRCm39) |
L26P |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,108,028 (GRCm39) |
S219N |
probably benign |
Het |
| Serpine3 |
T |
A |
14: 62,911,770 (GRCm39) |
L244Q |
probably damaging |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,895,927 (GRCm39) |
V481A |
possibly damaging |
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 |
|
IGL01418: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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTACCTGCCTTGATTGTTCTGTG -3'
(R):5'- GTACATGTAGTCCGGGTAGC -3'
Sequencing Primer
(F):5'- CCTTGATTGTTCTGTGAGCAG -3'
(R):5'- AGCCAAGTCCGCATGTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation