Incidental Mutation 'R2332:Hoxa5'
| ID |
246468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxa5
|
| Ensembl Gene |
ENSMUSG00000038253 |
| Gene Name |
homeobox A5 |
| Synonyms |
Hox-1.3 |
| MMRRC Submission |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.811)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52178768-52181437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52179659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 239
(I239V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048794]
[ENSMUST00000062829]
[ENSMUST00000114434]
[ENSMUST00000128102]
|
| AlphaFold |
P09021 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048794
AA Change: I239V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039012
Gene: ENSMUSG00000038253
AA Change: I239V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
175 |
N/A |
INTRINSIC |
|
HOX
|
195 |
257 |
1.63e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062829
|
| SMART Domains |
Protein: ENSMUSP00000058755
Gene: ENSMUSG00000043219
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
154 |
216 |
2.43e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114434
|
| SMART Domains |
Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560
| 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 |
probably benign
Transcript: ENSMUST00000128102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142764
|
| Meta Mutation Damage Score |
0.1069 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show skeletal defects, tracheal and lung dysmorphology, reduced surfactant production, emphysema, and partial neonatal lethality. Survivors show stunted growth, delayed ear elevation and eyelid opening, and altered thyroid development, digestive secretion, and ovarian biology. [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 |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
probably damaging |
Het |
|
| Other mutations in Hoxa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Hoxa5
|
APN |
6 |
52,181,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Hoxa5
|
APN |
6 |
52,179,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02021:Hoxa5
|
APN |
6 |
52,179,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Hoxa5
|
APN |
6 |
52,180,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Hoxa5
|
APN |
6 |
52,179,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Hoxa5
|
UTSW |
6 |
52,179,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Hoxa5
|
UTSW |
6 |
52,181,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Hoxa5
|
UTSW |
6 |
52,181,135 (GRCm39) |
missense |
probably benign |
|
|
R1460:Hoxa5
|
UTSW |
6 |
52,180,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Hoxa5
|
UTSW |
6 |
52,180,771 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1465:Hoxa5
|
UTSW |
6 |
52,180,771 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1804:Hoxa5
|
UTSW |
6 |
52,179,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Hoxa5
|
UTSW |
6 |
52,179,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Hoxa5
|
UTSW |
6 |
52,181,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Hoxa5
|
UTSW |
6 |
52,180,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5642:Hoxa5
|
UTSW |
6 |
52,181,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Hoxa5
|
UTSW |
6 |
52,179,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Hoxa5
|
UTSW |
6 |
52,181,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Hoxa5
|
UTSW |
6 |
52,181,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Hoxa5
|
UTSW |
6 |
52,181,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Hoxa5
|
UTSW |
6 |
52,181,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Hoxa5
|
UTSW |
6 |
52,181,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Hoxa5
|
UTSW |
6 |
52,179,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Hoxa5
|
UTSW |
6 |
52,181,196 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGAGAACAGGGCTTCTTC -3'
(R):5'- AGGAGTTGGTGGCTAAACCG -3'
Sequencing Primer
(F):5'- GGAGTTTCAGAAAGTCACCTTAGTAC -3'
(R):5'- ATATAGGTGGCCCAGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation