Incidental Mutation 'IGL03339:Hoxc5'
ID |
417154 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hoxc5
|
Ensembl Gene |
ENSMUSG00000022485 |
Gene Name |
homeobox C5 |
Synonyms |
Hox-6.2, Hox-3.4 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
IGL03339
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
102922440-102925861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102922568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 19
(Y19H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001709]
[ENSMUST00000001711]
[ENSMUST00000165375]
|
AlphaFold |
P32043 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001709
AA Change: Y19H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000001709 Gene: ENSMUSG00000022485 AA Change: Y19H
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
HOX
|
155 |
217 |
3.03e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000001711
|
SMART Domains |
Protein: ENSMUSP00000001711 Gene: ENSMUSG00000001661
Domain | Start | End | E-Value | Type |
HOX
|
141 |
203 |
2.39e-24 |
SMART |
low complexity region
|
221 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102056
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165375
|
SMART Domains |
Protein: ENSMUSP00000133561 Gene: ENSMUSG00000075394
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174869
|
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, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
Kctd13 |
A |
G |
7: 126,544,190 (GRCm39) |
D296G |
probably benign |
Het |
Mfsd2b |
A |
C |
12: 4,924,335 (GRCm39) |
M1R |
probably null |
Het |
Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly damaging |
Het |
Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
Or5b122 |
T |
G |
19: 13,563,439 (GRCm39) |
M257R |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,178,938 (GRCm39) |
D271G |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
Het |
|
Other mutations in Hoxc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0386:Hoxc5
|
UTSW |
15 |
102,923,784 (GRCm39) |
nonsense |
probably null |
|
R1797:Hoxc5
|
UTSW |
15 |
102,922,866 (GRCm39) |
missense |
probably benign |
0.00 |
R2021:Hoxc5
|
UTSW |
15 |
102,922,814 (GRCm39) |
splice site |
probably null |
|
R4851:Hoxc5
|
UTSW |
15 |
102,923,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Hoxc5
|
UTSW |
15 |
102,923,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5089:Hoxc5
|
UTSW |
15 |
102,922,487 (GRCm39) |
unclassified |
probably benign |
|
R6718:Hoxc5
|
UTSW |
15 |
102,922,698 (GRCm39) |
splice site |
probably null |
|
R6784:Hoxc5
|
UTSW |
15 |
102,922,322 (GRCm39) |
unclassified |
probably benign |
|
R6927:Hoxc5
|
UTSW |
15 |
102,923,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R8982:Hoxc5
|
UTSW |
15 |
102,923,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |