Incidental Mutation 'R3743:Hoxd9'
| ID |
270433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxd9
|
| Ensembl Gene |
ENSMUSG00000043342 |
| Gene Name |
homeobox D9 |
| Synonyms |
Hox-5.2, Hox-4.4 |
| MMRRC Submission |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
108 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
74528107-74530552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74528710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 104
(V104E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059272]
[ENSMUST00000061745]
|
| AlphaFold |
P28357 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059272
AA Change: V104E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058490
Gene: ENSMUSG00000043342
AA Change: V104E
| 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 benign
Transcript: ENSMUST00000061745
|
| SMART Domains |
Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368
| 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: ENSMUST00000132326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198895
|
| Meta Mutation Damage Score |
0.2166 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit anterior transformation of lumbar, sacral, and caudal vertebrae with abnormal humerus morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
probably damaging |
Het |
|
| Other mutations in Hoxd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0723:Hoxd9
|
UTSW |
2 |
74,529,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Hoxd9
|
UTSW |
2 |
74,529,667 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4261:Hoxd9
|
UTSW |
2 |
74,526,031 (GRCm39) |
unclassified |
probably benign |
|
|
R5794:Hoxd9
|
UTSW |
2 |
74,529,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Hoxd9
|
UTSW |
2 |
74,529,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Hoxd9
|
UTSW |
2 |
74,529,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6248:Hoxd9
|
UTSW |
2 |
74,528,980 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6268:Hoxd9
|
UTSW |
2 |
74,528,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Hoxd9
|
UTSW |
2 |
74,528,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6809:Hoxd9
|
UTSW |
2 |
74,529,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Hoxd9
|
UTSW |
2 |
74,528,709 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7254:Hoxd9
|
UTSW |
2 |
74,528,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Hoxd9
|
UTSW |
2 |
74,529,761 (GRCm39) |
missense |
unknown |
|
|
R9277:Hoxd9
|
UTSW |
2 |
74,529,539 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9445:Hoxd9
|
UTSW |
2 |
74,528,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Hoxd9
|
UTSW |
2 |
74,528,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Hoxd9
|
UTSW |
2 |
74,528,869 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACGTGGACTCGCTCATAG -3'
(R):5'- AGTTGCACGGGAATTCTGGG -3'
Sequencing Primer
(F):5'- GACTCGCTCATAGGCCATG -3'
(R):5'- CGGAGCACTCAGTCCTTTTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation