Incidental Mutation 'R0022:Hoxa7'
| ID |
15227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxa7
|
| Ensembl Gene |
ENSMUSG00000038236 |
| Gene Name |
homeobox A7 |
| Synonyms |
Hox-1.1 |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52191471-52198757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52194363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 8
(N8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048715]
[ENSMUST00000114434]
[ENSMUST00000128102]
[ENSMUST00000134367]
[ENSMUST00000140316]
[ENSMUST00000150041]
[ENSMUST00000153280]
|
| AlphaFold |
P02830 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048715
AA Change: N8S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048648
Gene: ENSMUSG00000038236
AA Change: N8S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
129 |
191 |
1.72e-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 |
probably benign
Transcript: ENSMUST00000134367
|
| SMART Domains |
Protein: ENSMUSP00000134610
Gene: ENSMUSG00000038236
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
8 |
70 |
1.72e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136806
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140316
AA Change: N8S
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138790
Gene: ENSMUSG00000038236
AA Change: N8S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150041
|
| SMART Domains |
Protein: ENSMUSP00000140519
Gene: ENSMUSG00000038236
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153280
|
| SMART Domains |
Protein: ENSMUSP00000134641
Gene: ENSMUSG00000038236
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
8 |
70 |
1.72e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.1779 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no apparent skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hoxa7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00931:Hoxa7
|
APN |
6 |
52,194,286 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02179:Hoxa7
|
APN |
6 |
52,192,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Hoxa7
|
UTSW |
6 |
52,194,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1830:Hoxa7
|
UTSW |
6 |
52,194,307 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3944:Hoxa7
|
UTSW |
6 |
52,193,606 (GRCm39) |
intron |
probably benign |
|
|
R4211:Hoxa7
|
UTSW |
6 |
52,193,605 (GRCm39) |
nonsense |
probably null |
|
|
R4880:Hoxa7
|
UTSW |
6 |
52,194,014 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5810:Hoxa7
|
UTSW |
6 |
52,193,004 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6009:Hoxa7
|
UTSW |
6 |
52,194,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Hoxa7
|
UTSW |
6 |
52,193,594 (GRCm39) |
intron |
probably benign |
|
|
R6532:Hoxa7
|
UTSW |
6 |
52,194,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6724:Hoxa7
|
UTSW |
6 |
52,192,719 (GRCm39) |
missense |
probably benign |
|
|
R7133:Hoxa7
|
UTSW |
6 |
52,192,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7400:Hoxa7
|
UTSW |
6 |
52,194,033 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7646:Hoxa7
|
UTSW |
6 |
52,192,699 (GRCm39) |
makesense |
probably null |
|
|
R7797:Hoxa7
|
UTSW |
6 |
52,192,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Hoxa7
|
UTSW |
6 |
52,194,993 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-12 |
Incidental Mutation