Incidental Mutation 'IGL03403:Hoxd4'
| ID |
421505 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hoxd4
|
| Ensembl Gene |
ENSMUSG00000101174 |
| Gene Name |
homeobox D4 |
| Synonyms |
Hox-5.1, Hox-4.2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
IGL03403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
74552322-74559504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74558681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 168
(E168V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047904]
[ENSMUST00000053932]
[ENSMUST00000111980]
[ENSMUST00000111983]
[ENSMUST00000144544]
|
| AlphaFold |
P10628 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047904
AA Change: E168V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047949
Gene: ENSMUSG00000115956
AA Change: E168V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
HOX
|
152 |
214 |
2.46e-26 |
SMART |
|
low complexity region
|
220 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053932
|
| SMART Domains |
Protein: ENSMUSP00000051355
Gene: ENSMUSG00000100642
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
159 |
N/A |
INTRINSIC |
|
HOX
|
195 |
257 |
5.83e-28 |
SMART |
|
Pfam:DUF4074
|
370 |
431 |
1.4e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083566
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111980
AA Change: E168V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107611
Gene: ENSMUSG00000101174
AA Change: E168V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
HOX
|
152 |
214 |
2.46e-26 |
SMART |
|
low complexity region
|
220 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111983
|
| SMART Domains |
Protein: ENSMUSP00000107614
Gene: ENSMUSG00000079277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
159 |
N/A |
INTRINSIC |
|
HOX
|
195 |
257 |
5.83e-28 |
SMART |
|
Pfam:DUF4074
|
369 |
431 |
8.9e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144544
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both homozygotes and heterozygotes for a targeted null mutation exhibit homeotic transformations of the second cervical vertebrae and malformed neural arches of C1 to C3 and of the basioccipital bone. Mutants show variable penetrance and expressivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
A |
15: 11,241,574 (GRCm39) |
I382N |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,659,902 (GRCm39) |
T797A |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,325 (GRCm39) |
V598E |
possibly damaging |
Het |
| Akap10 |
A |
G |
11: 61,806,099 (GRCm39) |
S210P |
probably benign |
Het |
| Asb5 |
G |
T |
8: 55,036,582 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,974,178 (GRCm39) |
V31A |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,306,618 (GRCm39) |
V197A |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,990,559 (GRCm39) |
V510A |
possibly damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,517 (GRCm39) |
D712E |
probably damaging |
Het |
| Cenpt |
G |
A |
8: 106,576,297 (GRCm39) |
Q85* |
probably null |
Het |
| Ciita |
C |
A |
16: 10,321,736 (GRCm39) |
H98N |
probably damaging |
Het |
| Cplane1 |
A |
C |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
| Csn1s1 |
T |
A |
5: 87,815,152 (GRCm39) |
M16K |
probably benign |
Het |
| Fah |
A |
G |
7: 84,242,417 (GRCm39) |
I297T |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,979,423 (GRCm39) |
N214D |
probably benign |
Het |
| Frem3 |
A |
C |
8: 81,337,719 (GRCm39) |
D4A |
probably benign |
Het |
| Gm3409 |
A |
G |
5: 146,476,334 (GRCm39) |
K162E |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,159,656 (GRCm39) |
D148G |
possibly damaging |
Het |
| Ifna6 |
A |
G |
4: 88,745,695 (GRCm39) |
S15G |
possibly damaging |
Het |
| Iqck |
T |
A |
7: 118,475,494 (GRCm39) |
H97Q |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,789 (GRCm39) |
E1003V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,592,836 (GRCm39) |
P3761L |
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,597 (GRCm39) |
C172Y |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,664,744 (GRCm39) |
N104I |
probably damaging |
Het |
| Or2z9 |
A |
G |
8: 72,854,341 (GRCm39) |
T246A |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,861,117 (GRCm39) |
I513F |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,125 (GRCm39) |
S125P |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,729,333 (GRCm39) |
D144G |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,113,550 (GRCm39) |
N303T |
possibly damaging |
Het |
| Rrn3 |
A |
T |
16: 13,617,809 (GRCm39) |
K351* |
probably null |
Het |
| Sox30 |
A |
T |
11: 45,908,035 (GRCm39) |
E734V |
probably damaging |
Het |
| Spns1 |
C |
T |
7: 125,970,708 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
T |
A |
9: 115,939,370 (GRCm39) |
E177D |
probably benign |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,741 (GRCm39) |
M78T |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,387,114 (GRCm39) |
T151I |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,806,111 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,578,922 (GRCm39) |
N730K |
probably damaging |
Het |
|
| Other mutations in Hoxd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02034:Hoxd4
|
APN |
2 |
74,558,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0153:Hoxd4
|
UTSW |
2 |
74,557,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3424:Hoxd4
|
UTSW |
2 |
74,557,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Hoxd4
|
UTSW |
2 |
74,557,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Hoxd4
|
UTSW |
2 |
74,557,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Hoxd4
|
UTSW |
2 |
74,558,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6264:Hoxd4
|
UTSW |
2 |
74,557,729 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6310:Hoxd4
|
UTSW |
2 |
74,558,734 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6336:Hoxd4
|
UTSW |
2 |
74,557,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Hoxd4
|
UTSW |
2 |
74,558,836 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9246:Hoxd4
|
UTSW |
2 |
74,558,747 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2016-08-02 |
Incidental Mutation