Incidental Mutation 'R6117:Hoxa10'
| ID |
485155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxa10
|
| Ensembl Gene |
ENSMUSG00000000938 |
| Gene Name |
homeobox A10 |
| Synonyms |
Hox-1.8, Hoxa-10 |
| MMRRC Submission |
044266-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
52208177-52217658 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 52211800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 39
(R39*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121043]
[ENSMUST00000125581]
|
| AlphaFold |
P31310 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121043
|
| SMART Domains |
Protein: ENSMUSP00000112872
Gene: ENSMUSG00000000938
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
20 |
82 |
1.15e-26 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125581
AA Change: R39*
|
| SMART Domains |
Protein: ENSMUSP00000120276
Gene: ENSMUSG00000000938
AA Change: R39*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
314 |
N/A |
INTRINSIC |
|
HOX
|
342 |
404 |
1.15e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174115
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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 a cluster on chromosome 6 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes are viable with homeotic transformation of vertebrae and lumbar spinal nerves, misshapen femurs and degeneration of knee articulation. Males show cryptorchidism and testes dysmorphology. Females have uterine defects affecting embryo viability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,348,534 (GRCm39) |
Y625C |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,788,996 (GRCm39) |
|
probably benign |
Het |
| Apmap |
T |
C |
2: 150,442,252 (GRCm39) |
T41A |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,341,350 (GRCm39) |
Y1804C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,437,537 (GRCm39) |
I333N |
possibly damaging |
Het |
| Cdsn |
C |
A |
17: 35,865,931 (GRCm39) |
S153R |
unknown |
Het |
| Celsr1 |
A |
T |
15: 85,816,612 (GRCm39) |
M1777K |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,139 (GRCm39) |
M249V |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,231,674 (GRCm39) |
L1138P |
probably damaging |
Het |
| Crim1 |
A |
C |
17: 78,610,517 (GRCm39) |
D324A |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,532,732 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,010,397 (GRCm39) |
Y307C |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,270,566 (GRCm39) |
L956H |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,663,750 (GRCm39) |
S537N |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,173 (GRCm39) |
L323Q |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,031,631 (GRCm39) |
H226L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,365 (GRCm39) |
D421V |
possibly damaging |
Het |
| Frmd4a |
T |
C |
2: 4,607,060 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,580,471 (GRCm39) |
|
probably null |
Het |
| Gm2178 |
T |
C |
14: 26,235,995 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,888 (GRCm39) |
N390S |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,308,478 (GRCm39) |
T281A |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,245 (GRCm39) |
M1L |
probably damaging |
Het |
| Or10ak9 |
A |
T |
4: 118,726,341 (GRCm39) |
Y121F |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,695 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
C |
15: 103,429,909 (GRCm39) |
V134A |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,042,203 (GRCm39) |
D1600E |
probably benign |
Het |
| Prss54 |
T |
A |
8: 96,292,086 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,465,741 (GRCm39) |
I4757N |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,624,822 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Sox15 |
G |
T |
11: 69,546,716 (GRCm39) |
G173V |
possibly damaging |
Het |
| Stard3 |
T |
C |
11: 98,263,088 (GRCm39) |
S48P |
probably damaging |
Het |
| Stk32c |
G |
A |
7: 138,702,839 (GRCm39) |
Q67* |
probably null |
Het |
| Svil |
T |
A |
18: 5,116,016 (GRCm39) |
W2101R |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,914,427 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,280 (GRCm39) |
M1485L |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,261 (GRCm39) |
D504G |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,739,771 (GRCm39) |
L1091S |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,714,226 (GRCm39) |
E2856G |
possibly damaging |
Het |
| Usp47 |
C |
T |
7: 111,687,139 (GRCm39) |
T699M |
probably damaging |
Het |
|
| Other mutations in Hoxa10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02900:Hoxa10
|
APN |
6 |
52,209,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
FR4449:Hoxa10
|
UTSW |
6 |
52,211,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
FR4737:Hoxa10
|
UTSW |
6 |
52,211,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
FR4976:Hoxa10
|
UTSW |
6 |
52,211,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4651001:Hoxa10
|
UTSW |
6 |
52,211,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1757:Hoxa10
|
UTSW |
6 |
52,211,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1889:Hoxa10
|
UTSW |
6 |
52,211,472 (GRCm39) |
small deletion |
probably benign |
|
|
R1935:Hoxa10
|
UTSW |
6 |
52,211,350 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1940:Hoxa10
|
UTSW |
6 |
52,211,350 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2224:Hoxa10
|
UTSW |
6 |
52,209,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Hoxa10
|
UTSW |
6 |
52,209,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Hoxa10
|
UTSW |
6 |
52,209,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Hoxa10
|
UTSW |
6 |
52,209,481 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4822:Hoxa10
|
UTSW |
6 |
52,209,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7770:Hoxa10
|
UTSW |
6 |
52,211,245 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9306:Hoxa10
|
UTSW |
6 |
52,209,635 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9526:Hoxa10
|
UTSW |
6 |
52,211,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCGCAAAAGAACACG -3'
(R):5'- AAACTCTGGCTCGGGATTG -3'
Sequencing Primer
(F):5'- TCCAGCCACAGGTCTAGG -3'
(R):5'- TCGGGATTGGCTGCAAGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation