Incidental Mutation 'R1017:Hoxa3'
| ID |
96435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxa3
|
| Ensembl Gene |
ENSMUSG00000079560 |
| Gene Name |
homeobox A3 |
| Synonyms |
Hox-1.5, Mo-10 |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52146042-52190316 bp(-) (GRCm39) |
| Type of Mutation |
splice site (165 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 52149386 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 |
probably benign
Transcript: ENSMUST00000114434
AA Change: Q82K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
AA Change: Q82K
| 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 null
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
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGGAAAGATTTGTTTGCCCAC -3'
(R):5'- AATGCCAGTCAGCAGCCATACG -3'
Sequencing Primer
(F):5'- TTTGCCCACGGTGGGAG -3'
(R):5'- ATGGCGTTGAGTACCATCGA -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation