Incidental Mutation 'R2382:Hoxa13'
| ID |
247565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxa13
|
| Ensembl Gene |
ENSMUSG00000038203 |
| Gene Name |
homeobox A13 |
| Synonyms |
Hox-1.10 |
| MMRRC Submission |
040357-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
52235833-52237865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52236125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 304
(V304D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047993]
[ENSMUST00000114416]
[ENSMUST00000147595]
|
| AlphaFold |
Q62424 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047993
AA Change: V304D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203
AA Change: V304D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
81 |
N/A |
INTRINSIC |
|
Pfam:HoxA13_N
|
136 |
219 |
6.2e-25 |
PFAM |
|
HOX
|
317 |
379 |
1.16e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114416
AA Change: V140D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110059
Gene: ENSMUSG00000038203
AA Change: V140D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HoxA13_N
|
1 |
55 |
1e-19 |
PFAM |
|
HOX
|
153 |
215 |
1.16e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147595
AA Change: V217D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125221
Gene: ENSMUSG00000038203
AA Change: V217D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HoxA13_N
|
1 |
39 |
8.3e-11 |
PFAM |
|
HOX
|
137 |
199 |
1.16e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174763
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit agenesis of both the urinary bladder and the caudal portion of the Mullerian ducts, premature stenosis of the umbilical arteries, loss of the most anterior digit of all feet, and death around mid-gestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aarsd1 |
T |
A |
11: 101,304,904 (GRCm39) |
I64F |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
| Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
| Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
| Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
| Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
| Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,747,569 (GRCm39) |
H432L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
| Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
| Or7a37 |
G |
A |
10: 78,805,990 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,757,062 (GRCm39) |
N308S |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,343,621 (GRCm39) |
T595A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
| Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
possibly damaging |
Het |
|
| Other mutations in Hoxa13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
H8786:Hoxa13
|
UTSW |
6 |
52,260,636 (GRCm38) |
frame shift |
probably null |
|
|
PIT4131001:Hoxa13
|
UTSW |
6 |
52,260,648 (GRCm38) |
utr 5 prime |
probably benign |
|
|
PIT4131001:Hoxa13
|
UTSW |
6 |
52,260,647 (GRCm38) |
utr 5 prime |
probably benign |
|
|
PIT4142001:Hoxa13
|
UTSW |
6 |
52,260,648 (GRCm38) |
utr 5 prime |
probably benign |
|
|
PIT4142001:Hoxa13
|
UTSW |
6 |
52,260,647 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R0458:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R0496:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R0502:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R0512:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R0784:Hoxa13
|
UTSW |
6 |
52,236,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1062:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1157:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1192:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1310:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1341:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1343:Hoxa13
|
UTSW |
6 |
52,237,618 (GRCm39) |
frame shift |
probably null |
|
|
R1398:Hoxa13
|
UTSW |
6 |
52,260,648 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1398:Hoxa13
|
UTSW |
6 |
52,260,647 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1400:Hoxa13
|
UTSW |
6 |
52,260,648 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1400:Hoxa13
|
UTSW |
6 |
52,260,647 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1450:Hoxa13
|
UTSW |
6 |
52,260,648 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1450:Hoxa13
|
UTSW |
6 |
52,260,647 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1632:Hoxa13
|
UTSW |
6 |
52,236,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3149:Hoxa13
|
UTSW |
6 |
52,237,284 (GRCm39) |
intron |
probably benign |
|
|
R4012:Hoxa13
|
UTSW |
6 |
52,236,107 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4426:Hoxa13
|
UTSW |
6 |
52,237,714 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5535:Hoxa13
|
UTSW |
6 |
52,237,520 (GRCm39) |
frame shift |
probably null |
|
|
R6175:Hoxa13
|
UTSW |
6 |
52,236,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7365:Hoxa13
|
UTSW |
6 |
52,236,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Hoxa13
|
UTSW |
6 |
52,237,247 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7926:Hoxa13
|
UTSW |
6 |
52,237,619 (GRCm39) |
frame shift |
probably null |
|
|
R7931:Hoxa13
|
UTSW |
6 |
52,237,620 (GRCm39) |
frame shift |
probably null |
|
|
R8960:Hoxa13
|
UTSW |
6 |
52,236,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8982:Hoxa13
|
UTSW |
6 |
52,235,916 (GRCm39) |
nonsense |
probably null |
|
|
R9060:Hoxa13
|
UTSW |
6 |
52,236,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9698:Hoxa13
|
UTSW |
6 |
52,236,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Hoxa13
|
UTSW |
6 |
52,237,099 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAACCAGATTGTGACCTG -3'
(R):5'- CACTGGAACTCTGGGCGATTTC -3'
Sequencing Primer
(F):5'- ATTGTGACCTGCCTCTCAGAGAG -3'
(R):5'- GGGCGATTTCATTTCAGTACAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation