Incidental Mutation 'R3935:Hoxd11'
| ID |
307121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxd11
|
| Ensembl Gene |
ENSMUSG00000042499 |
| Gene Name |
homeobox D11 |
| Synonyms |
Hox-5.5, E230017H14Rik, Hox-5.4, Hox-4.6 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
74509902-74517360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74514376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 302
(N302S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142312]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142312
AA Change: N302S
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122582
Gene: ENSMUSG00000042499
AA Change: N302S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3528
|
26 |
80 |
5.4e-25 |
PFAM |
|
Pfam:DUF3528
|
103 |
198 |
7.1e-21 |
PFAM |
|
low complexity region
|
224 |
257 |
N/A |
INTRINSIC |
|
HOX
|
264 |
326 |
1.58e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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 product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations of sacral vertebrae, malformations of distal limbs, and reduced fertility in males. [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 |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
probably damaging |
Het |
|
| Other mutations in Hoxd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00550:Hoxd11
|
APN |
2 |
74,514,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Hoxd11
|
UTSW |
2 |
74,512,921 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3895:Hoxd11
|
UTSW |
2 |
74,513,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Hoxd11
|
UTSW |
2 |
74,513,163 (GRCm39) |
nonsense |
probably null |
|
|
R7322:Hoxd11
|
UTSW |
2 |
74,514,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Hoxd11
|
UTSW |
2 |
74,514,459 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8060:Hoxd11
|
UTSW |
2 |
74,512,720 (GRCm39) |
start gained |
probably benign |
|
|
R8188:Hoxd11
|
UTSW |
2 |
74,514,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Hoxd11
|
UTSW |
2 |
74,513,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8697:Hoxd11
|
UTSW |
2 |
74,513,013 (GRCm39) |
missense |
unknown |
|
|
R8875:Hoxd11
|
UTSW |
2 |
74,513,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9093:Hoxd11
|
UTSW |
2 |
74,514,482 (GRCm39) |
makesense |
probably null |
|
|
R9102:Hoxd11
|
UTSW |
2 |
74,513,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9570:Hoxd11
|
UTSW |
2 |
74,512,812 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1177:Hoxd11
|
UTSW |
2 |
74,512,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTAGCCTCTCTCACC -3'
(R):5'- CGAGAAGAAATCGTGAAGTTCC -3'
Sequencing Primer
(F):5'- AGTAGCCTCTCTCACCTCTTGG -3'
(R):5'- ACATTGGGCCTGCTGAGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation