Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Iqcb1'

523730

Institutional Source

Beutler Lab

Gene Symbol

Iqcb1

Ensembl Gene

ENSMUSG00000022837

Gene Name

IQ calmodulin-binding motif containing 1

Synonyms

6820449I09Rik, NPHP5

MMRRC Submission

044735-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36648747-36693083 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 36692023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023534] [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114812] [ENSMUST00000114819] [ENSMUST00000134616] [ENSMUST00000135406]

AlphaFold

Q8BP00

Predicted Effect

probably benign
Transcript: ENSMUST00000023534

SMART Domains

Protein: ENSMUSP00000023534
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
low complexity region	55	99	N/A	INTRINSIC
low complexity region	109	126	N/A	INTRINSIC

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: ENSMUST00000114812

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	6.71e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	143	154	N/A	INTRINSIC
low complexity region	200	219	N/A	INTRINSIC
low complexity region	450	471	N/A	INTRINSIC
internal_repeat_3	478	517	6.71e-6	PROSPERO
coiled coil region	522	553	N/A	INTRINSIC
internal_repeat_4	586	620	3.05e-5	PROSPERO
coiled coil region	638	1080	N/A	INTRINSIC
coiled coil region	1112	1199	N/A	INTRINSIC
internal_repeat_4	1212	1247	3.05e-5	PROSPERO
low complexity region	1259	1273	N/A	INTRINSIC
internal_repeat_1	1280	1311	3.14e-6	PROSPERO
low complexity region	1316	1328	N/A	INTRINSIC
coiled coil region	1361	1714	N/A	INTRINSIC
internal_repeat_2	1719	1757	6.71e-6	PROSPERO
internal_repeat_3	1720	1763	6.71e-6	PROSPERO
coiled coil region	1777	1993	N/A	INTRINSIC
low complexity region	2250	2265	N/A	INTRINSIC
internal_repeat_1	2310	2341	3.14e-6	PROSPERO
low complexity region	2359	2377	N/A	INTRINSIC
low complexity region	2497	2508	N/A	INTRINSIC
coiled coil region	2734	2786	N/A	INTRINSIC
coiled coil region	2813	2902	N/A	INTRINSIC
low complexity region	2923	2935	N/A	INTRINSIC
coiled coil region	2966	3016	N/A	INTRINSIC
coiled coil region	3076	3122	N/A	INTRINSIC
transmembrane domain	3174	3196	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000114819
AA Change: V541M

SMART Domains

Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: V541M

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

probably benign
Transcript: ENSMUST00000134616

SMART Domains

Protein: ENSMUSP00000116503
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
coiled coil region	42	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135406

SMART Domains

Protein: ENSMUSP00000115848
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
coiled coil region	42	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157072

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	C	1: 159,902,804 (GRCm39)	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,115,331 (GRCm39)	S87C	probably benign	Het
Arhgef37	T	C	18: 61,627,952 (GRCm39)	T664A	probably benign	Het
Arsi	A	G	18: 61,045,528 (GRCm39)	T73A	probably benign	Het
Cacnb2	A	T	2: 14,979,960 (GRCm39)	T274S	probably benign	Het
Cd244a	A	G	1: 171,401,672 (GRCm39)	T133A	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ciz1	T	A	2: 32,267,323 (GRCm39)	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,639,785 (GRCm39)	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,008,072 (GRCm39)	F160I	probably benign	Het
Esrra	T	C	19: 6,889,220 (GRCm39)	T390A	probably benign	Het
Gm17079	T	A	14: 51,931,833 (GRCm39)	Q91L	possibly damaging	Het
Gm17079	C	A	14: 51,931,832 (GRCm39)	Q91H	probably damaging	Het
Got1	A	G	19: 43,493,242 (GRCm39)	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206 (GRCm39)	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,717,996 (GRCm39)	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,795,808 (GRCm39)	I154V	probably benign	Het
Hkdc1	T	C	10: 62,231,220 (GRCm39)	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,470,869 (GRCm39)		probably null	Het
Hspbap1	T	G	16: 35,621,961 (GRCm39)	L102W	probably damaging	Het
Itga7	A	G	10: 128,784,862 (GRCm39)	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,874,897 (GRCm39)	D418V	probably benign	Het
Jakmip2	T	C	18: 43,690,432 (GRCm39)	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Kcnu1	A	G	8: 26,408,344 (GRCm39)	I52V	probably benign	Het
Kdm5a	T	C	6: 120,407,189 (GRCm39)	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,743,739 (GRCm39)		probably benign	Het
Mab21l3	A	G	3: 101,725,961 (GRCm39)	V345A	possibly damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mccc1	T	C	3: 36,048,079 (GRCm39)	S115G	probably benign	Het
Mchr1	G	A	15: 81,122,071 (GRCm39)	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,239,783 (GRCm39)	I48F	probably benign	Het
Myo9a	T	A	9: 59,734,479 (GRCm39)	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,308,302 (GRCm39)	L216*	probably null	Het
Nrxn3	A	T	12: 89,780,102 (GRCm39)		probably benign	Het
Olig2	T	A	16: 91,023,769 (GRCm39)	M161K	probably damaging	Het
Or11h7	A	T	14: 50,891,090 (GRCm39)	Y132F	probably damaging	Het
Pcdh15	T	A	10: 74,021,210 (GRCm39)	N141K	probably damaging	Het
Pcdha4	T	C	18: 37,088,031 (GRCm39)	V738A	probably benign	Het
Pdgfra	T	C	5: 75,328,503 (GRCm39)	S212P	probably benign	Het
Plk3	G	A	4: 116,989,934 (GRCm39)	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,484,378 (GRCm39)	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,081 (GRCm39)	N2303K	probably damaging	Het
Rab25	G	A	3: 88,450,710 (GRCm39)	T117M	probably damaging	Het
Relch	T	A	1: 105,619,732 (GRCm39)	D320E	possibly damaging	Het
Slc25a47	T	C	12: 108,821,904 (GRCm39)	V231A	probably benign	Het
Slx4	G	A	16: 3,803,140 (GRCm39)	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,156,758 (GRCm39)	A470V	probably benign	Het
Spa17	A	G	9: 37,517,090 (GRCm39)	F101S	probably benign	Het
Ssh1	C	T	5: 114,096,791 (GRCm39)	A217T	probably benign	Het
Stimate	T	A	14: 30,593,521 (GRCm39)		probably null	Het
Synm	G	C	7: 67,383,264 (GRCm39)	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,967,187 (GRCm39)	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,726,191 (GRCm39)	T175S	probably benign	Het
Tet2	T	A	3: 133,193,096 (GRCm39)	H446L	possibly damaging	Het
Tpm3-rs7	G	T	14: 113,552,268 (GRCm39)	R54L	probably benign	Het
Ttc5	T	A	14: 51,022,926 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,643,594 (GRCm39)	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,317,125 (GRCm39)	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324 (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
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'- TGCTCTCAGATGTCAGAGGC -3'
(R):5'- TGGCAACTTCCAGCTTTAAAAG -3'

Sequencing Primer
(F):5'- GCAGAGAGCTCCATGCAC -3'
(R):5'- TAGATAGCCTAAAGAGAGAAACTTCG -3'

Posted On

2018-06-22