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]
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Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
Het |
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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 |
R4507:Hoxc10
|
UTSW |
15 |
102,875,387 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
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