Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Iqcb1'

540464

Institutional Source

Beutler Lab

Gene Symbol

Iqcb1

Ensembl Gene

ENSMUSG00000022837

Gene Name

IQ calmodulin-binding motif containing 1

Synonyms

6820449I09Rik, NPHP5

MMRRC Submission

045053-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36648747-36693083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36660274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 146 (T146A)

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: T146A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837
AA Change: T146A

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: T146A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837
AA Change: T146A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Acsm3	T	C	7: 119,377,678 (GRCm39)	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Fkrp	C	T	7: 16,545,751 (GRCm39)	R37Q	probably benign	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gjd3	A	C	11: 102,691,733 (GRCm39)	M90R	probably damaging	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,297,774 (GRCm39)		probably null	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Tsg101	T	C	7: 46,556,847 (GRCm39)	T61A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	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
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
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'- ACCACAGGTTGCACAAATGAAG -3'
(R):5'- AGCTTGTCCTTTCAGATTATGAGTG -3'

Sequencing Primer
(F):5'- GTTGCACAAATGAAGAAACAAAGCAC -3'
(R):5'- GTCCTTTCAGATTATGAGTGAAACTC -3'

Posted On

2018-11-06