Incidental Mutation 'R6715:Iqcb1'
| ID |
529307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcb1
|
| Ensembl Gene |
ENSMUSG00000022837 |
| Gene Name |
IQ calmodulin-binding motif containing 1 |
| Synonyms |
6820449I09Rik, NPHP5 |
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36648747-36693083 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36655991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 126
(F126S)
|
| 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: F126S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: F126S
| 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: F126S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: F126S
| 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: ENSMUST00000138660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232162
|
| Meta Mutation Damage Score |
0.5118 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
| Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- GCACAATGCCTATGGAAGTTAGAC -3'
(R):5'- CTTGTATGTTCAGCCAGATATGG -3'
Sequencing Primer
(F):5'- CAATGCCTATGGAAGTTAGACTATTC -3'
(R):5'- GAAGGGATAGATATGGCATACATCC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation