Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00963:Nphp4'

27307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nphp4

Ensembl Gene

ENSMUSG00000039577

Gene Name

nephronophthisis 4 (juvenile) homolog (human)

Synonyms

nmf192, 4930564O18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL00963

Quality Score

Status

Chromosome

Chromosomal Location

152561163-152647640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 152622318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 566 (H566Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056567] [ENSMUST00000081393]

AlphaFold

P59240

Predicted Effect

probably benign
Transcript: ENSMUST00000056567
AA Change: H566Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: H566Q

Domain	Start	End	E-Value	Type
low complexity region	317	333	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	507	530	N/A	INTRINSIC
low complexity region	896	909	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081393
AA Change: H566Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: H566Q

Domain	Start	End	E-Value	Type
low complexity region	317	333	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	507	530	N/A	INTRINSIC
low complexity region	896	909	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142027

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 protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI606181	A	C	19: 41,582,228 (GRCm39)		probably benign	Het
Alyref2	C	T	1: 171,331,816 (GRCm39)	Q198*	probably null	Het
Ankrd13a	T	C	5: 114,939,863 (GRCm39)	S497P	probably damaging	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Col13a1	T	C	10: 61,674,476 (GRCm39)		probably benign	Het
Ctnna3	T	A	10: 64,781,728 (GRCm39)	D730E	probably damaging	Het
Dock11	A	G	X: 35,296,035 (GRCm39)	Q1197R	possibly damaging	Het
Drosha	T	A	15: 12,926,083 (GRCm39)	I1224N	probably damaging	Het
Dsc1	T	C	18: 20,245,043 (GRCm39)	K42R	probably null	Het
Engase	A	G	11: 118,373,824 (GRCm39)	D322G	probably damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Fgfr2	C	T	7: 129,830,491 (GRCm39)	M47I	probably damaging	Het
Gad1-ps	G	T	10: 99,281,310 (GRCm39)		noncoding transcript	Het
Gatb	A	G	3: 85,526,255 (GRCm39)	S378G	probably benign	Het
Hivep2	G	A	10: 14,005,091 (GRCm39)	S563N	probably damaging	Het
Irs2	G	A	8: 11,055,867 (GRCm39)	A855V	probably benign	Het
Jagn1	T	C	6: 113,424,436 (GRCm39)	S103P	probably damaging	Het
Kdm6a	T	A	X: 18,112,665 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,306,895 (GRCm39)	C356R	probably damaging	Het
Mefv	T	A	16: 3,533,584 (GRCm39)	Y229F	possibly damaging	Het
Myef2	T	C	2: 124,957,395 (GRCm39)	Y120C	probably damaging	Het
Myo9a	T	G	9: 59,807,655 (GRCm39)	I2074S	probably damaging	Het
Nhs	A	G	X: 160,630,045 (GRCm39)	S337P	probably damaging	Het
Or2d2	A	T	7: 106,728,272 (GRCm39)	C109*	probably null	Het
Or52z13	T	A	7: 103,246,844 (GRCm39)		probably null	Het
Pabpc2	C	A	18: 39,908,390 (GRCm39)	Q552K	possibly damaging	Het
Podn	T	A	4: 107,879,371 (GRCm39)	N104I	probably damaging	Het
Rit1	T	C	3: 88,633,738 (GRCm39)	V94A	probably damaging	Het
Scn7a	A	T	2: 66,534,289 (GRCm39)		probably benign	Het
Septin4	A	T	11: 87,474,199 (GRCm39)	K29M	possibly damaging	Het
Sowahb	T	C	5: 93,191,870 (GRCm39)	Y283C	probably damaging	Het
Srbd1	A	T	17: 86,422,637 (GRCm39)	W460R	probably damaging	Het
Svep1	T	A	4: 58,072,791 (GRCm39)	K2173*	probably null	Het
Tlr6	T	C	5: 65,112,019 (GRCm39)	N296S	possibly damaging	Het
Trpm8	A	G	1: 88,307,549 (GRCm39)	D1073G	possibly damaging	Het
Ttc28	A	T	5: 111,434,255 (GRCm39)	K2399*	probably null	Het
Ttn	A	G	2: 76,717,627 (GRCm39)		probably benign	Het
Uroc1	C	T	6: 90,315,810 (GRCm39)	T189I	probably benign	Het
Usp18	C	T	6: 121,232,341 (GRCm39)	Q122*	probably null	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	probably damaging	Het
Zfp644	T	C	5: 106,786,503 (GRCm39)		probably null	Het
Zfp871	A	T	17: 32,993,726 (GRCm39)	V483E	probably benign	Het

Other mutations in Nphp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Nphp4	APN	4	152,621,766 (GRCm39)	splice site	probably benign
IGL01571:Nphp4	APN	4	152,640,839 (GRCm39)	missense	probably benign	0.21
IGL01707:Nphp4	APN	4	152,623,440 (GRCm39)	missense	probably benign	0.00
IGL01837:Nphp4	APN	4	152,573,338 (GRCm39)	missense	probably damaging	0.96
IGL02341:Nphp4	APN	4	152,639,926 (GRCm39)	splice site	probably benign
IGL02558:Nphp4	APN	4	152,639,988 (GRCm39)	missense	probably damaging	1.00
IGL02563:Nphp4	APN	4	152,640,677 (GRCm39)	missense	probably benign	0.00
IGL02712:Nphp4	APN	4	152,640,732 (GRCm39)	missense	probably damaging	1.00
IGL03023:Nphp4	APN	4	152,608,692 (GRCm39)	splice site	probably null
R0280:Nphp4	UTSW	4	152,636,393 (GRCm39)	splice site	probably benign
R0317:Nphp4	UTSW	4	152,636,388 (GRCm39)	critical splice donor site	probably null
R0410:Nphp4	UTSW	4	152,641,503 (GRCm39)	missense	probably benign
R0433:Nphp4	UTSW	4	152,602,629 (GRCm39)	missense	probably benign	0.00
R0706:Nphp4	UTSW	4	152,640,074 (GRCm39)	missense	probably damaging	0.98
R0785:Nphp4	UTSW	4	152,646,566 (GRCm39)	missense	possibly damaging	0.58
R0890:Nphp4	UTSW	4	152,582,677 (GRCm39)	missense	possibly damaging	0.93
R0930:Nphp4	UTSW	4	152,622,512 (GRCm39)	missense	probably benign	0.01
R1202:Nphp4	UTSW	4	152,573,186 (GRCm39)	splice site	probably null
R1203:Nphp4	UTSW	4	152,573,289 (GRCm39)	missense	probably damaging	0.96
R1366:Nphp4	UTSW	4	152,587,383 (GRCm39)	missense	probably damaging	0.96
R1452:Nphp4	UTSW	4	152,631,475 (GRCm39)	missense	probably damaging	0.99
R1598:Nphp4	UTSW	4	152,646,547 (GRCm39)	missense	probably benign	0.00
R1699:Nphp4	UTSW	4	152,581,121 (GRCm39)	missense	probably damaging	0.99
R2007:Nphp4	UTSW	4	152,639,111 (GRCm39)	missense	probably damaging	0.97
R2082:Nphp4	UTSW	4	152,643,821 (GRCm39)	missense	probably benign	0.38
R2264:Nphp4	UTSW	4	152,587,465 (GRCm39)	splice site	probably benign
R2280:Nphp4	UTSW	4	152,641,500 (GRCm39)	missense	possibly damaging	0.95
R2281:Nphp4	UTSW	4	152,641,500 (GRCm39)	missense	possibly damaging	0.95
R2926:Nphp4	UTSW	4	152,602,596 (GRCm39)	missense	probably damaging	0.99
R3764:Nphp4	UTSW	4	152,622,474 (GRCm39)	splice site	probably benign
R4084:Nphp4	UTSW	4	152,573,248 (GRCm39)	missense	probably damaging	1.00
R4091:Nphp4	UTSW	4	152,631,475 (GRCm39)	missense	probably damaging	0.97
R4240:Nphp4	UTSW	4	152,640,141 (GRCm39)	missense	probably benign	0.07
R4701:Nphp4	UTSW	4	152,581,116 (GRCm39)	missense	probably damaging	1.00
R4778:Nphp4	UTSW	4	152,640,748 (GRCm39)	missense	probably benign	0.44
R4783:Nphp4	UTSW	4	152,639,003 (GRCm39)	missense	probably benign	0.00
R4784:Nphp4	UTSW	4	152,639,003 (GRCm39)	missense	probably benign	0.00
R4974:Nphp4	UTSW	4	152,622,250 (GRCm39)	missense	probably damaging	1.00
R5053:Nphp4	UTSW	4	152,628,919 (GRCm39)	splice site	probably null
R5117:Nphp4	UTSW	4	152,608,689 (GRCm39)	splice site	probably null
R5128:Nphp4	UTSW	4	152,587,448 (GRCm39)	missense	probably benign	0.01
R5665:Nphp4	UTSW	4	152,590,942 (GRCm39)	missense	probably benign	0.25
R5890:Nphp4	UTSW	4	152,631,536 (GRCm39)	missense	probably benign	0.44
R6171:Nphp4	UTSW	4	152,628,906 (GRCm39)	missense	probably damaging	0.99
R6601:Nphp4	UTSW	4	152,587,464 (GRCm39)	splice site	probably null
R6772:Nphp4	UTSW	4	152,628,863 (GRCm39)	missense	probably benign	0.07
R6806:Nphp4	UTSW	4	152,622,558 (GRCm39)	missense	probably benign	0.02
R7006:Nphp4	UTSW	4	152,573,259 (GRCm39)	missense	probably benign	0.12
R7124:Nphp4	UTSW	4	152,640,141 (GRCm39)	missense	probably benign	0.07
R7381:Nphp4	UTSW	4	152,583,460 (GRCm39)	missense	possibly damaging	0.94
R7411:Nphp4	UTSW	4	152,639,174 (GRCm39)	missense	probably benign	0.25
R7638:Nphp4	UTSW	4	152,638,991 (GRCm39)	missense	probably benign	0.08
R7814:Nphp4	UTSW	4	152,628,860 (GRCm39)	missense	probably damaging	1.00
R7814:Nphp4	UTSW	4	152,608,729 (GRCm39)	missense	possibly damaging	0.93
R7841:Nphp4	UTSW	4	152,581,140 (GRCm39)	missense	probably benign	0.01
R8346:Nphp4	UTSW	4	152,645,778 (GRCm39)	missense	probably damaging	1.00
R8479:Nphp4	UTSW	4	152,608,747 (GRCm39)	missense	probably benign	0.01
R8847:Nphp4	UTSW	4	152,590,863 (GRCm39)	missense	probably damaging	1.00
R8995:Nphp4	UTSW	4	152,623,345 (GRCm39)	missense	probably damaging	1.00
R8997:Nphp4	UTSW	4	152,623,345 (GRCm39)	missense	probably damaging	1.00
R9075:Nphp4	UTSW	4	152,591,905 (GRCm39)	missense	probably damaging	1.00
R9089:Nphp4	UTSW	4	152,645,673 (GRCm39)	missense	possibly damaging	0.87
R9191:Nphp4	UTSW	4	152,640,687 (GRCm39)	missense	probably damaging	1.00
R9274:Nphp4	UTSW	4	152,640,056 (GRCm39)	missense	probably benign	0.05
R9311:Nphp4	UTSW	4	152,608,714 (GRCm39)	missense	probably damaging	0.99
R9383:Nphp4	UTSW	4	152,628,918 (GRCm39)	critical splice donor site	probably null
R9628:Nphp4	UTSW	4	152,568,966 (GRCm39)	missense	probably damaging	1.00
R9711:Nphp4	UTSW	4	152,623,434 (GRCm39)	missense	possibly damaging	0.77
R9712:Nphp4	UTSW	4	152,631,521 (GRCm39)	missense	probably benign	0.17
R9752:Nphp4	UTSW	4	152,621,737 (GRCm39)	missense	probably benign	0.00
R9790:Nphp4	UTSW	4	152,646,605 (GRCm39)	missense	probably null	0.64
R9791:Nphp4	UTSW	4	152,646,605 (GRCm39)	missense	probably null	0.64
T0970:Nphp4	UTSW	4	152,640,836 (GRCm39)	missense	probably damaging	1.00
X0058:Nphp4	UTSW	4	152,644,164 (GRCm39)	missense	possibly damaging	0.95
Z1177:Nphp4	UTSW	4	152,602,653 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17