Incidental Mutation 'R3717:Hoxd10'
| ID |
259946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxd10
|
| Ensembl Gene |
ENSMUSG00000050368 |
| Gene Name |
homeobox D10 |
| Synonyms |
Hox-5.3, Hox-4.5 |
| MMRRC Submission |
040709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.772)
|
| Stock # |
R3717 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
74522268-74525449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74524474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 262
(T262I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059272]
[ENSMUST00000061745]
|
| AlphaFold |
P28359 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059272
|
| SMART Domains |
Protein: ENSMUSP00000058490
Gene: ENSMUSG00000043342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hox9_act
|
1 |
126 |
2e-47 |
PFAM |
|
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
256 |
N/A |
INTRINSIC |
|
HOX
|
272 |
334 |
6.25e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061745
AA Change: T262I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
AA Change: T262I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
43 |
N/A |
INTRINSIC |
|
HOX
|
266 |
328 |
3.3e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126966
|
| SMART Domains |
Protein: ENSMUSP00000133930
Gene: ENSMUSG00000086077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190845
|
| Meta Mutation Damage Score |
0.2025 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit an abnormal gait associated with defects in sacral vertebrae (including homeotic transformations), hindlimb bones, and muscle innervation. These defects are sometimes seen in heterozygotes as well. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
| Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
| Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
| Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
| Other mutations in Hoxd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Hoxd10
|
APN |
2 |
74,522,786 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03206:Hoxd10
|
APN |
2 |
74,522,776 (GRCm39) |
nonsense |
probably null |
|
|
hockey
|
UTSW |
2 |
74,524,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Hoxd10
|
UTSW |
2 |
74,523,064 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3004:Hoxd10
|
UTSW |
2 |
74,522,706 (GRCm39) |
missense |
probably benign |
|
|
R3419:Hoxd10
|
UTSW |
2 |
74,522,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4627:Hoxd10
|
UTSW |
2 |
74,522,636 (GRCm39) |
missense |
probably benign |
|
|
R4697:Hoxd10
|
UTSW |
2 |
74,524,531 (GRCm39) |
nonsense |
probably null |
|
|
R5875:Hoxd10
|
UTSW |
2 |
74,522,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6378:Hoxd10
|
UTSW |
2 |
74,524,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6597:Hoxd10
|
UTSW |
2 |
74,522,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Hoxd10
|
UTSW |
2 |
74,524,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Hoxd10
|
UTSW |
2 |
74,522,616 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8503:Hoxd10
|
UTSW |
2 |
74,522,724 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9229:Hoxd10
|
UTSW |
2 |
74,524,600 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9342:Hoxd10
|
UTSW |
2 |
74,522,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACCTTCGTAAGTGATG -3'
(R):5'- GGTCAGTTCTCGGATTCGATTCTC -3'
Sequencing Primer
(F):5'- GTGATGTTTAATACCAGCATTGTCC -3'
(R):5'- CATCTTCTTGAGTTTCATTCGGCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation