Incidental Mutation 'IGL01710:Hoxa3'
| ID |
104749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hoxa3
|
| Ensembl Gene |
ENSMUSG00000079560 |
| Gene Name |
homeobox A3 |
| Synonyms |
Hox-1.5, Mo-10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
52146042-52190316 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 52147554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114434]
[ENSMUST00000128102]
[ENSMUST00000134831]
|
| AlphaFold |
P02831 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000114434
AA Change: E233G
|
| SMART Domains |
Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: E233G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
131 |
N/A |
INTRINSIC |
|
HOX
|
192 |
254 |
3.35e-28 |
SMART |
|
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
326 |
N/A |
INTRINSIC |
|
Pfam:DUF4074
|
377 |
441 |
9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155922
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are athymic, aparathyroid, and exhibit reduced thyroid and submaxillary glands, defects of the IXth nerve, and frequently, heart and artery abnormalities. Mutants die neonatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
| Chkb |
G |
A |
15: 89,310,843 (GRCm39) |
Q379* |
probably null |
Het |
| Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,527,392 (GRCm39) |
V425I |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,587,872 (GRCm39) |
F193S |
probably damaging |
Het |
| Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
| Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
| Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
| Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,152,320 (GRCm39) |
E125D |
probably benign |
Het |
| Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
| Pex6 |
A |
G |
17: 47,036,252 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
| Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
| Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
| Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
| Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
probably benign |
Het |
|
| Other mutations in Hoxa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02346:Hoxa3
|
APN |
6 |
52,147,579 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Hoxa3
|
UTSW |
6 |
52,147,110 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03052:Hoxa3
|
UTSW |
6 |
52,147,267 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4515001:Hoxa3
|
UTSW |
6 |
52,147,164 (GRCm39) |
missense |
unknown |
|
|
R0197:Hoxa3
|
UTSW |
6 |
52,147,123 (GRCm39) |
unclassified |
probably benign |
|
|
R1017:Hoxa3
|
UTSW |
6 |
52,149,386 (GRCm39) |
splice site |
probably null |
|
|
R1180:Hoxa3
|
UTSW |
6 |
52,147,382 (GRCm39) |
nonsense |
probably null |
|
|
R1927:Hoxa3
|
UTSW |
6 |
52,146,979 (GRCm39) |
unclassified |
probably benign |
|
|
R1999:Hoxa3
|
UTSW |
6 |
52,147,382 (GRCm39) |
nonsense |
probably null |
|
|
R4939:Hoxa3
|
UTSW |
6 |
52,147,656 (GRCm39) |
unclassified |
probably benign |
|
|
R5931:Hoxa3
|
UTSW |
6 |
52,149,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Hoxa3
|
UTSW |
6 |
52,147,263 (GRCm39) |
unclassified |
probably benign |
|
|
R6658:Hoxa3
|
UTSW |
6 |
52,147,058 (GRCm39) |
nonsense |
probably null |
|
|
R7651:Hoxa3
|
UTSW |
6 |
52,149,253 (GRCm39) |
missense |
unknown |
|
|
R7853:Hoxa3
|
UTSW |
6 |
52,147,267 (GRCm39) |
unclassified |
probably benign |
|
|
R8274:Hoxa3
|
UTSW |
6 |
52,147,524 (GRCm39) |
missense |
unknown |
|
|
X0057:Hoxa3
|
UTSW |
6 |
52,147,421 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation