Incidental Mutation 'R4507:Hoxc10'
| ID |
332072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxc10
|
| Ensembl Gene |
ENSMUSG00000022484 |
| Gene Name |
homeobox C10 |
| Synonyms |
Hox-3.6 |
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.880)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102875231-102880328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102875387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 32
(Y32F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001699]
|
| AlphaFold |
P31257 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001699
AA Change: Y32F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001699
Gene: ENSMUSG00000022484
AA Change: Y32F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
HOX
|
268 |
330 |
2.68e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174869
|
| Meta Mutation Damage Score |
0.1113 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit skeletal transformations in thoracic, lumbar and sacral vertebrae, alterations in the pelvis and in the bones and ligaments of the hindlimb, femoral defects, decreased lumbar motor neuron and rib number, impairedcoordination, muscle wasting, and obesity. [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 |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
Het |
|
| Other mutations in Hoxc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0630:Hoxc10
|
UTSW |
15 |
102,875,917 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1529:Hoxc10
|
UTSW |
15 |
102,875,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Hoxc10
|
UTSW |
15 |
102,875,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Hoxc10
|
UTSW |
15 |
102,875,912 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2962:Hoxc10
|
UTSW |
15 |
102,875,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Hoxc10
|
UTSW |
15 |
102,875,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3850:Hoxc10
|
UTSW |
15 |
102,875,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4650:Hoxc10
|
UTSW |
15 |
102,875,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5640:Hoxc10
|
UTSW |
15 |
102,875,702 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5951:Hoxc10
|
UTSW |
15 |
102,875,753 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6240:Hoxc10
|
UTSW |
15 |
102,879,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Hoxc10
|
UTSW |
15 |
102,875,942 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7110:Hoxc10
|
UTSW |
15 |
102,879,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Hoxc10
|
UTSW |
15 |
102,875,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9123:Hoxc10
|
UTSW |
15 |
102,875,810 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9368:Hoxc10
|
UTSW |
15 |
102,879,382 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9426:Hoxc10
|
UTSW |
15 |
102,879,289 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCGGATAATTATGGAGCTG -3'
(R):5'- TGCCAACAGGTTGTTCCAG -3'
Sequencing Primer
(F):5'- AATTATGGAGCTGATATTTCCCCC -3'
(R):5'- AACAGGTTGTTCCAGGCGGTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation