Incidental Mutation 'IGL02444:Iqcb1'
| ID |
293501 |
| 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 # |
IGL02444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36648747-36693083 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 36652273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 61
(Y61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023535]
[ENSMUST00000023537]
[ENSMUST00000075946]
[ENSMUST00000114819]
[ENSMUST00000114829]
|
| AlphaFold |
Q8BP00 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023535
AA Change: Y61*
|
| SMART Domains |
Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: Y61*
| 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: ENSMUST00000023537
|
| SMART Domains |
Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EAF
|
14 |
116 |
1.3e-28 |
PFAM |
|
| 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 null
Transcript: ENSMUST00000114819
AA Change: Y61*
|
| SMART Domains |
Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: Y61*
| 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: ENSMUST00000114829
|
| SMART Domains |
Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EAF
|
16 |
115 |
8.6e-24 |
PFAM |
|
low complexity region
|
174 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232162
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,710 (GRCm39) |
I260T |
possibly damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,163,816 (GRCm39) |
V484D |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,542,319 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,555,083 (GRCm39) |
S457P |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,618 (GRCm39) |
T38A |
probably damaging |
Het |
| Cast |
G |
A |
13: 74,887,972 (GRCm39) |
T240I |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,413,542 (GRCm39) |
|
probably benign |
Het |
| Cdon |
T |
C |
9: 35,384,744 (GRCm39) |
S677P |
probably benign |
Het |
| Cfap161 |
T |
C |
7: 83,425,353 (GRCm39) |
E246G |
probably damaging |
Het |
| Dnah11 |
G |
A |
12: 117,939,608 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,838,444 (GRCm39) |
V835I |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,762,045 (GRCm39) |
H510R |
possibly damaging |
Het |
| Fbxw2 |
G |
T |
2: 34,695,793 (GRCm39) |
T367K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,426,189 (GRCm39) |
S82P |
probably benign |
Het |
| Gm4353 |
C |
T |
7: 115,682,679 (GRCm39) |
V301I |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,728,178 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,609,860 (GRCm39) |
M650L |
possibly damaging |
Het |
| Herc4 |
T |
C |
10: 63,142,212 (GRCm39) |
V671A |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,056,306 (GRCm39) |
G709S |
probably benign |
Het |
| Itpripl1 |
T |
G |
2: 126,983,621 (GRCm39) |
H167P |
possibly damaging |
Het |
| Kcnn3 |
T |
C |
3: 89,559,359 (GRCm39) |
V543A |
possibly damaging |
Het |
| Klf10 |
T |
A |
15: 38,298,068 (GRCm39) |
K43M |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,547,450 (GRCm39) |
R345C |
probably damaging |
Het |
| Lmntd2 |
A |
G |
7: 140,791,832 (GRCm39) |
S304P |
probably damaging |
Het |
| Lpar3 |
T |
C |
3: 145,946,949 (GRCm39) |
I209T |
probably damaging |
Het |
| Map3k13 |
T |
A |
16: 21,732,982 (GRCm39) |
M528K |
probably benign |
Het |
| Me1 |
A |
T |
9: 86,464,967 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,337,028 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
T |
A |
5: 121,058,071 (GRCm39) |
F338L |
probably benign |
Het |
| Or1b1 |
G |
T |
2: 36,994,786 (GRCm39) |
P292Q |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,551 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,454,103 (GRCm39) |
V161A |
probably benign |
Het |
| Prdx3 |
A |
T |
19: 60,859,899 (GRCm39) |
F91L |
possibly damaging |
Het |
| Rab25 |
T |
C |
3: 88,450,020 (GRCm39) |
T114A |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,126,765 (GRCm39) |
E73G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,772,234 (GRCm39) |
S252P |
probably damaging |
Het |
| Srgap2 |
A |
C |
1: 131,252,891 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,735,502 (GRCm39) |
S576P |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,966,013 (GRCm39) |
A524S |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,874 (GRCm39) |
|
probably benign |
Het |
| Tmem52 |
G |
A |
4: 155,554,850 (GRCm39) |
D158N |
probably damaging |
Het |
| Tyw3 |
T |
A |
3: 154,302,626 (GRCm39) |
Q36L |
probably damaging |
Het |
| Usp10 |
A |
T |
8: 120,675,432 (GRCm39) |
I483F |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,278,718 (GRCm39) |
Y216H |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,683,948 (GRCm39) |
S138P |
probably damaging |
Het |
| Vmn2r42 |
G |
T |
7: 8,187,312 (GRCm39) |
A770E |
probably damaging |
Het |
| Zfp292 |
A |
C |
4: 34,808,810 (GRCm39) |
S1411R |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation