Incidental Mutation 'IGL00539:Iqcb1'
| ID |
3976 |
| 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 # |
IGL00539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36648747-36693083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36678873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 396
(K396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023535]
[ENSMUST00000075946]
[ENSMUST00000114819]
|
| AlphaFold |
Q8BP00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023535
AA Change: K396E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: K396E
| 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 damaging
Transcript: ENSMUST00000114819
AA Change: K396E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: K396E
| 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: ENSMUST00000138660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231824
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
A |
19: 8,985,272 (GRCm39) |
D2185E |
possibly damaging |
Het |
| Camk2b |
A |
G |
11: 5,922,310 (GRCm39) |
S560P |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,039,245 (GRCm39) |
N562K |
possibly damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,876,744 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ermap |
A |
G |
4: 119,041,114 (GRCm39) |
S299P |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,429,119 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,188 (GRCm39) |
L65Q |
probably damaging |
Het |
| Hsph1 |
C |
T |
5: 149,542,254 (GRCm39) |
R723H |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,821,504 (GRCm39) |
T1424A |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,279,588 (GRCm39) |
S700G |
possibly damaging |
Het |
| Mta3 |
G |
A |
17: 84,070,412 (GRCm39) |
R39Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,728 (GRCm39) |
T263S |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,567,921 (GRCm39) |
P64S |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,219 (GRCm39) |
H660R |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,880,931 (GRCm39) |
T753A |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,627,817 (GRCm39) |
Q93* |
probably null |
Het |
| Sfpq |
T |
C |
4: 126,917,481 (GRCm39) |
V437A |
possibly damaging |
Het |
| Slc18b1 |
G |
A |
10: 23,700,659 (GRCm39) |
|
probably null |
Het |
| Taf1c |
C |
T |
8: 120,328,067 (GRCm39) |
V277I |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,736,957 (GRCm39) |
Q1498L |
probably benign |
Het |
| Tet1 |
C |
A |
10: 62,650,276 (GRCm39) |
C1644F |
probably damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,693 (GRCm39) |
E121G |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,416,965 (GRCm39) |
D525G |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,075,728 (GRCm39) |
T360A |
possibly damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,790 (GRCm39) |
P1418L |
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 |
|
IGL00763:Iqcb1
|
APN |
16 |
36,676,649 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation