Incidental Mutation 'IGL00763:Iqcb1'
ID |
11482 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iqcb1
|
Ensembl Gene |
ENSMUSG00000022837 |
Gene Name |
IQ calmodulin-binding motif containing 1 |
Synonyms |
6820449I09Rik, NPHP5 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
IGL00763
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
36648747-36693083 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 36676649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023535]
[ENSMUST00000075946]
[ENSMUST00000114819]
|
AlphaFold |
Q8BP00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023535
|
SMART Domains |
Protein: ENSMUSP00000023535 Gene: ENSMUSG00000022837
Domain | Start | End | E-Value | Type |
IQ
|
293 |
315 |
5.92e-4 |
SMART |
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
IQ
|
386 |
408 |
2.66e-6 |
SMART |
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075946
|
SMART Domains |
Protein: ENSMUSP00000075331 Gene: ENSMUSG00000022838
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
71 |
N/A |
INTRINSIC |
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114819
|
SMART Domains |
Protein: ENSMUSP00000110467 Gene: ENSMUSG00000022837
Domain | Start | End | E-Value | Type |
IQ
|
293 |
315 |
5.92e-4 |
SMART |
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
IQ
|
386 |
408 |
2.66e-6 |
SMART |
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
Other mutations in Iqcb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Iqcb1
|
APN |
16 |
36,678,948 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00539:Iqcb1
|
APN |
16 |
36,678,873 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02247:Iqcb1
|
APN |
16 |
36,660,258 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02444:Iqcb1
|
APN |
16 |
36,652,273 (GRCm39) |
nonsense |
probably null |
|
R0360:Iqcb1
|
UTSW |
16 |
36,692,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Iqcb1
|
UTSW |
16 |
36,652,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Iqcb1
|
UTSW |
16 |
36,663,824 (GRCm39) |
splice site |
probably null |
|
R2332:Iqcb1
|
UTSW |
16 |
36,663,801 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3833:Iqcb1
|
UTSW |
16 |
36,652,276 (GRCm39) |
nonsense |
probably null |
|
R4841:Iqcb1
|
UTSW |
16 |
36,655,952 (GRCm39) |
missense |
probably benign |
0.00 |
R4842:Iqcb1
|
UTSW |
16 |
36,655,952 (GRCm39) |
missense |
probably benign |
0.00 |
R6574:Iqcb1
|
UTSW |
16 |
36,691,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6612:Iqcb1
|
UTSW |
16 |
36,692,023 (GRCm39) |
unclassified |
probably benign |
|
R6715:Iqcb1
|
UTSW |
16 |
36,655,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R6939:Iqcb1
|
UTSW |
16 |
36,660,274 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7620:Iqcb1
|
UTSW |
16 |
36,676,772 (GRCm39) |
missense |
probably benign |
|
R7716:Iqcb1
|
UTSW |
16 |
36,687,969 (GRCm39) |
missense |
probably benign |
|
R8247:Iqcb1
|
UTSW |
16 |
36,678,836 (GRCm39) |
missense |
probably benign |
0.34 |
R8976:Iqcb1
|
UTSW |
16 |
36,692,005 (GRCm39) |
missense |
probably benign |
0.03 |
R9081:Iqcb1
|
UTSW |
16 |
36,656,006 (GRCm39) |
missense |
probably null |
0.98 |
R9404:Iqcb1
|
UTSW |
16 |
36,671,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |