Incidental Mutation 'IGL00422:Hoxd12'
| ID |
7161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hoxd12
|
| Ensembl Gene |
ENSMUSG00000001823 |
| Gene Name |
homeobox D12 |
| Synonyms |
Hox-4.7, Hox-5.6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.425)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
74505357-74508049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74505771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 114
(R114Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001872]
[ENSMUST00000001878]
|
| AlphaFold |
P23812 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001872
|
| SMART Domains |
Protein: ENSMUSP00000001872
Gene: ENSMUSG00000001819
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
|
Pfam:HoxA13_N
|
75 |
177 |
4e-18 |
PFAM |
|
HOX
|
272 |
334 |
4.33e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001878
AA Change: R114Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000001878
Gene: ENSMUSG00000001823
AA Change: R114Q
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
200 |
262 |
4.57e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048086
|
| 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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Hoxd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Hoxd12
|
APN |
2 |
74,505,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Hoxd12
|
APN |
2 |
74,506,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Hoxd12
|
APN |
2 |
74,505,905 (GRCm39) |
missense |
probably benign |
|
|
R0661:Hoxd12
|
UTSW |
2 |
74,506,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0975:Hoxd12
|
UTSW |
2 |
74,506,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Hoxd12
|
UTSW |
2 |
74,505,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1931:Hoxd12
|
UTSW |
2 |
74,505,857 (GRCm39) |
missense |
probably benign |
|
|
R2510:Hoxd12
|
UTSW |
2 |
74,505,815 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2511:Hoxd12
|
UTSW |
2 |
74,505,815 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3946:Hoxd12
|
UTSW |
2 |
74,505,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Hoxd12
|
UTSW |
2 |
74,505,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Hoxd12
|
UTSW |
2 |
74,505,590 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7426:Hoxd12
|
UTSW |
2 |
74,505,569 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7972:Hoxd12
|
UTSW |
2 |
74,506,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Hoxd12
|
UTSW |
2 |
74,505,902 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9330:Hoxd12
|
UTSW |
2 |
74,505,733 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation