Incidental Mutation 'R2332:Iqcb1'
| ID |
246486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcb1
|
| Ensembl Gene |
ENSMUSG00000022837 |
| Gene Name |
IQ calmodulin-binding motif containing 1 |
| Synonyms |
6820449I09Rik, NPHP5 |
| MMRRC Submission |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36648747-36693083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36663801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 190
(N190D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023535]
[ENSMUST00000075946]
[ENSMUST00000114819]
|
| AlphaFold |
Q8BP00 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023535
AA Change: N190D
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: N190D
| 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 |
possibly damaging
Transcript: ENSMUST00000114819
AA Change: N190D
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: N190D
| 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: ENSMUST00000134556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232162
|
| Meta Mutation Damage Score |
0.0900 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAAGTTTAGCAGAAATGATC -3'
(R):5'- GTCCATGAGACCTGATGAATAAACCC -3'
Sequencing Primer
(F):5'- AGCAGAAATGATCAAACTTTCATTTG -3'
(R):5'- GAGACCTGATGAATAAACCCATATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation