Incidental Mutation 'IGL02346:Hoxa3'
| ID |
289281 |
| 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 # |
IGL02346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
52146042-52190316 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 52147579 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: M225L
|
| SMART Domains |
Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: M225L
| 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: ENSMUST00000155922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189230
|
| 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 |
|---|
| Acacb |
A |
T |
5: 114,376,760 (GRCm39) |
I1948F |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,750,919 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,601,271 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,257,875 (GRCm39) |
F125I |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,884,762 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
T |
A |
16: 29,146,554 (GRCm39) |
K247* |
probably null |
Het |
| Col9a1 |
C |
T |
1: 24,262,690 (GRCm39) |
A585V |
probably damaging |
Het |
| Eef1akmt3 |
A |
G |
10: 126,868,805 (GRCm39) |
V223A |
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,503,700 (GRCm39) |
S766P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,595,158 (GRCm39) |
A402E |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,519,951 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,369 (GRCm39) |
E1859G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,898,278 (GRCm39) |
V786G |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,889 (GRCm39) |
S724G |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,373,377 (GRCm39) |
Y634C |
probably damaging |
Het |
| Id4 |
C |
A |
13: 48,415,189 (GRCm39) |
Y72* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,619 (GRCm39) |
E71D |
probably benign |
Het |
| Kcnh4 |
G |
A |
11: 100,647,768 (GRCm39) |
T168M |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,291 (GRCm39) |
I1699L |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,992,836 (GRCm39) |
Y1048H |
probably damaging |
Het |
| Mix23 |
T |
C |
16: 35,912,205 (GRCm39) |
V87A |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,527 (GRCm39) |
V246L |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,153 (GRCm39) |
I560N |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,016 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,065 (GRCm39) |
I289V |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,055,939 (GRCm39) |
L181P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,552 (GRCm39) |
|
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,221,639 (GRCm39) |
F184L |
possibly damaging |
Het |
| Prpf39 |
C |
T |
12: 65,104,510 (GRCm39) |
T525I |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,047,782 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
G |
17: 32,618,323 (GRCm39) |
W161R |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,470,125 (GRCm39) |
V329D |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,514 (GRCm39) |
M1L |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,667,788 (GRCm39) |
D770N |
probably damaging |
Het |
| Tdp2 |
T |
C |
13: 25,025,335 (GRCm39) |
V368A |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,218,751 (GRCm39) |
S59P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,501 (GRCm39) |
V54A |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,990,850 (GRCm39) |
N837I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,998,407 (GRCm39) |
E1118V |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,438,858 (GRCm39) |
H308R |
probably benign |
Het |
| Zbtb41 |
C |
A |
1: 139,374,838 (GRCm39) |
P766Q |
probably damaging |
Het |
|
| Other mutations in Hoxa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Hoxa3
|
APN |
6 |
52,147,554 (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 |
2015-04-16 |
Incidental Mutation