Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00419:Rpgrip1l'

4991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpgrip1l

Ensembl Gene

ENSMUSG00000033282

Gene Name

Rpgrip1-like

Synonyms

Nphp8, 1700047E16Rik, Ftm, fantom

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00419

Quality Score

Status

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91990202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 747 (R747S)

Ref Sequence

ENSEMBL: ENSMUSP00000042702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]

AlphaFold

Q8CG73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047783
AA Change: R747S

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: R747S

Domain	Start	End	E-Value	Type
coiled coil region	56	143	N/A	INTRINSIC
coiled coil region	196	268	N/A	INTRINSIC
coiled coil region	299	371	N/A	INTRINSIC
coiled coil region	395	454	N/A	INTRINSIC
coiled coil region	520	556	N/A	INTRINSIC
Pfam:C2-C2_1	597	738	5.8e-61	PFAM
low complexity region	769	778	N/A	INTRINSIC
C2	791	896	1.06e-5	SMART
low complexity region	989	1000	N/A	INTRINSIC
low complexity region	1057	1080	N/A	INTRINSIC
Blast:C2	1098	1223	3e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000139113

SMART Domains

Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282

Domain	Start	End	E-Value	Type
coiled coil region	56	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210054

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	C	1: 172,067,373 (GRCm39)	N586K	probably damaging	Het
AU040320	T	C	4: 126,686,027 (GRCm39)	M201T	probably benign	Het
Bcap29	A	T	12: 31,680,871 (GRCm39)	F38L	probably benign	Het
Bdkrb2	A	G	12: 105,554,562 (GRCm39)		probably benign	Het
Ceacam5	G	T	7: 17,493,481 (GRCm39)	E835*	probably null	Het
Cenpp	T	C	13: 49,801,132 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,804,574 (GRCm39)	V51A	probably damaging	Het
Dmxl2	T	C	9: 54,313,951 (GRCm39)	N1660D	probably damaging	Het
Exosc9	T	C	3: 36,607,288 (GRCm39)		probably benign	Het
Ezh1	T	C	11: 101,085,332 (GRCm39)		probably null	Het
Fbxo24	G	A	5: 137,622,563 (GRCm39)	R68C	probably damaging	Het
Gbp9	T	C	5: 105,241,943 (GRCm39)	I205V	probably benign	Het
Gpc5	A	G	14: 115,607,436 (GRCm39)	Y346C	probably damaging	Het
Hectd1	A	G	12: 51,810,818 (GRCm39)	Y1706H	probably damaging	Het
Igsf9b	A	G	9: 27,230,951 (GRCm39)	Y318C	probably damaging	Het
Map1a	A	T	2: 121,129,508 (GRCm39)	Q182L	probably damaging	Het
Rab11fip3	A	T	17: 26,210,783 (GRCm39)		probably benign	Het
Rbm20	G	A	19: 53,831,695 (GRCm39)	R643Q	probably damaging	Het
Ros1	A	T	10: 51,967,150 (GRCm39)	C1707S	probably damaging	Het
Rsph10b	T	C	5: 143,873,905 (GRCm39)	*166R	probably null	Het
Sft2d1	G	A	17: 8,539,437 (GRCm39)	C80Y	possibly damaging	Het
Zdhhc14	T	C	17: 5,802,959 (GRCm39)		probably benign	Het
Zfp300	T	A	X: 20,948,531 (GRCm39)	Y411F	probably damaging	Het
Zfp92	T	C	X: 72,463,764 (GRCm39)		probably benign	Het
Zhx1	A	G	15: 57,916,711 (GRCm39)	F512L	probably damaging	Het

Other mutations in Rpgrip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Rpgrip1l	APN	8	92,002,265 (GRCm39)	missense	probably benign	0.33
IGL01113:Rpgrip1l	APN	8	91,987,367 (GRCm39)	intron	probably benign
IGL01151:Rpgrip1l	APN	8	92,001,777 (GRCm39)	missense	probably damaging	1.00
IGL01321:Rpgrip1l	APN	8	91,987,501 (GRCm39)	nonsense	probably null
IGL01384:Rpgrip1l	APN	8	92,000,268 (GRCm39)	missense	probably benign	0.00
IGL01634:Rpgrip1l	APN	8	91,979,172 (GRCm39)	missense	probably benign	0.25
IGL01634:Rpgrip1l	APN	8	91,979,171 (GRCm39)	missense	probably benign
IGL01781:Rpgrip1l	APN	8	91,996,846 (GRCm39)	missense	probably benign	0.16
IGL01784:Rpgrip1l	APN	8	91,997,089 (GRCm39)	missense	possibly damaging	0.56
IGL02034:Rpgrip1l	APN	8	91,977,776 (GRCm39)	critical splice donor site	probably null
IGL02250:Rpgrip1l	APN	8	91,959,489 (GRCm39)	missense	probably benign	0.00
IGL02285:Rpgrip1l	APN	8	91,959,535 (GRCm39)	missense	possibly damaging	0.92
IGL02634:Rpgrip1l	APN	8	91,951,972 (GRCm39)	splice site	probably benign
IGL02736:Rpgrip1l	APN	8	91,990,219 (GRCm39)	missense	possibly damaging	0.91
IGL02825:Rpgrip1l	APN	8	92,031,433 (GRCm39)	missense	possibly damaging	0.67
IGL02962:Rpgrip1l	APN	8	91,996,990 (GRCm39)	missense	possibly damaging	0.95
IGL03031:Rpgrip1l	APN	8	91,987,411 (GRCm39)	missense	probably damaging	1.00
IGL03184:Rpgrip1l	APN	8	92,027,437 (GRCm39)	missense	probably damaging	1.00
P0005:Rpgrip1l	UTSW	8	92,025,853 (GRCm39)	splice site	probably benign
R0118:Rpgrip1l	UTSW	8	91,996,750 (GRCm39)	missense	probably damaging	1.00
R0490:Rpgrip1l	UTSW	8	92,026,473 (GRCm39)	splice site	probably benign
R0599:Rpgrip1l	UTSW	8	92,031,628 (GRCm39)	missense	probably damaging	1.00
R1514:Rpgrip1l	UTSW	8	91,987,378 (GRCm39)	missense	probably damaging	1.00
R1648:Rpgrip1l	UTSW	8	91,979,517 (GRCm39)	missense	probably damaging	1.00
R1914:Rpgrip1l	UTSW	8	91,959,552 (GRCm39)	missense	probably benign	0.13
R1915:Rpgrip1l	UTSW	8	91,959,552 (GRCm39)	missense	probably benign	0.13
R2093:Rpgrip1l	UTSW	8	91,996,760 (GRCm39)	missense	possibly damaging	0.87
R2225:Rpgrip1l	UTSW	8	91,948,095 (GRCm39)	missense	probably benign	0.45
R2504:Rpgrip1l	UTSW	8	92,007,344 (GRCm39)	critical splice donor site	probably null
R3859:Rpgrip1l	UTSW	8	91,990,286 (GRCm39)	missense	probably benign	0.00
R4118:Rpgrip1l	UTSW	8	91,979,535 (GRCm39)	missense	probably benign
R4801:Rpgrip1l	UTSW	8	91,996,805 (GRCm39)	missense	probably damaging	1.00
R4802:Rpgrip1l	UTSW	8	91,996,805 (GRCm39)	missense	probably damaging	1.00
R4921:Rpgrip1l	UTSW	8	91,987,637 (GRCm39)	missense	probably benign	0.05
R4976:Rpgrip1l	UTSW	8	92,007,444 (GRCm39)	missense	probably damaging	1.00
R5092:Rpgrip1l	UTSW	8	91,948,012 (GRCm39)	nonsense	probably null
R5099:Rpgrip1l	UTSW	8	91,975,350 (GRCm39)	missense	probably benign	0.20
R5119:Rpgrip1l	UTSW	8	92,007,444 (GRCm39)	missense	probably damaging	1.00
R5141:Rpgrip1l	UTSW	8	91,987,546 (GRCm39)	missense	probably benign	0.29
R5793:Rpgrip1l	UTSW	8	91,987,400 (GRCm39)	missense	probably benign	0.06
R5847:Rpgrip1l	UTSW	8	92,031,613 (GRCm39)	missense	probably damaging	1.00
R5871:Rpgrip1l	UTSW	8	91,948,014 (GRCm39)	missense	possibly damaging	0.89
R5916:Rpgrip1l	UTSW	8	91,979,541 (GRCm39)	missense	possibly damaging	0.93
R6619:Rpgrip1l	UTSW	8	91,959,499 (GRCm39)	missense	possibly damaging	0.69
R6654:Rpgrip1l	UTSW	8	91,946,833 (GRCm39)	missense	probably benign	0.36
R6956:Rpgrip1l	UTSW	8	92,012,941 (GRCm39)	splice site	probably null
R6984:Rpgrip1l	UTSW	8	91,987,426 (GRCm39)	missense	probably benign	0.03
R7064:Rpgrip1l	UTSW	8	91,990,148 (GRCm39)	nonsense	probably null
R7145:Rpgrip1l	UTSW	8	91,959,434 (GRCm39)	critical splice donor site	probably null
R7243:Rpgrip1l	UTSW	8	91,996,751 (GRCm39)	missense	probably benign	0.00
R7673:Rpgrip1l	UTSW	8	92,027,415 (GRCm39)	missense	possibly damaging	0.89
R7796:Rpgrip1l	UTSW	8	91,996,865 (GRCm39)	missense	probably damaging	1.00
R8684:Rpgrip1l	UTSW	8	92,000,329 (GRCm39)	missense	probably benign	0.00
R8769:Rpgrip1l	UTSW	8	91,979,212 (GRCm39)	splice site	probably benign
R8955:Rpgrip1l	UTSW	8	92,007,456 (GRCm39)	missense	possibly damaging	0.67
R9006:Rpgrip1l	UTSW	8	92,007,436 (GRCm39)	missense	probably benign
R9085:Rpgrip1l	UTSW	8	92,014,303 (GRCm39)	missense	possibly damaging	0.68
R9188:Rpgrip1l	UTSW	8	92,031,638 (GRCm39)	missense	probably damaging	1.00
R9258:Rpgrip1l	UTSW	8	91,987,614 (GRCm39)	nonsense	probably null
R9268:Rpgrip1l	UTSW	8	92,007,355 (GRCm39)	missense	probably benign
R9366:Rpgrip1l	UTSW	8	91,996,809 (GRCm39)	nonsense	probably null
R9547:Rpgrip1l	UTSW	8	91,977,873 (GRCm39)	missense	probably benign	0.00
R9565:Rpgrip1l	UTSW	8	92,031,516 (GRCm39)	missense	probably benign	0.05
R9582:Rpgrip1l	UTSW	8	91,996,886 (GRCm39)	missense	probably benign	0.03
R9604:Rpgrip1l	UTSW	8	92,031,433 (GRCm39)	missense	possibly damaging	0.67
R9614:Rpgrip1l	UTSW	8	91,987,434 (GRCm39)	missense	possibly damaging	0.79
R9697:Rpgrip1l	UTSW	8	91,987,391 (GRCm39)	missense	possibly damaging	0.49
Z1088:Rpgrip1l	UTSW	8	91,996,748 (GRCm39)	missense	possibly damaging	0.89
Z1088:Rpgrip1l	UTSW	8	91,987,603 (GRCm39)	missense	possibly damaging	0.96
Z1088:Rpgrip1l	UTSW	8	91,946,807 (GRCm39)	makesense	probably null

Posted On

2012-04-20