MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs. [provided by MGI curators]
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Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438A13Rik |
C |
A |
3: 36,908,218 |
H489Q |
probably damaging |
Het |
Acvr2a |
A |
T |
2: 48,873,052 |
|
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,322,942 |
K583N |
possibly damaging |
Het |
Crot |
C |
A |
5: 8,976,072 |
R305L |
probably damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,829,544 |
N428K |
possibly damaging |
Het |
Dab1 |
A |
G |
4: 104,727,878 |
K405R |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,123,771 |
F2016L |
possibly damaging |
Het |
Fgfrl1 |
A |
G |
5: 108,705,953 |
K309E |
possibly damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,403,209 |
H749R |
probably benign |
Het |
Mki67 |
A |
T |
7: 135,698,731 |
S1525T |
possibly damaging |
Het |
Mob1a |
T |
A |
6: 83,332,486 |
Y72N |
probably damaging |
Het |
Ntrk1 |
C |
T |
3: 87,783,697 |
E387K |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,787,671 |
M932T |
possibly damaging |
Het |
Rarb |
C |
A |
14: 16,443,791 |
E166* |
probably null |
Het |
Thnsl1 |
T |
A |
2: 21,212,612 |
H392Q |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,686,426 |
R288S |
probably benign |
Het |
Zc4h2 |
T |
A |
X: 95,642,201 |
R186* |
probably null |
Het |
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