Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00932:Rpgrip1l'

28032

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 #

IGL00932

Quality Score

Status

Chromosome

Chromosomal Location

91943658-92039890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92002265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 448 (F448S)

Ref Sequence

ENSEMBL: ENSMUSP00000042702 (fasta)

Gene Model

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

AlphaFold

Q8CG73

Predicted Effect

probably benign
Transcript: ENSMUST00000047783
AA Change: F448S

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: F448S

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

noncoding transcript
Transcript: ENSMUST00000136198

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

noncoding transcript
Transcript: ENSMUST00000211185

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	T	9: 122,080,297 (GRCm39)	C571*	probably null	Het
Atp7b	T	C	8: 22,501,114 (GRCm39)	I930V	possibly damaging	Het
Azin2	A	T	4: 128,844,459 (GRCm39)	V48E	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Clec4a1	G	A	6: 122,907,654 (GRCm39)	C114Y	probably damaging	Het
Cybc1	A	G	11: 121,119,156 (GRCm39)	V28A	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Huwe1	T	C	X: 150,643,157 (GRCm39)		probably benign	Het
Lamb1	T	A	12: 31,348,825 (GRCm39)	V571E	possibly damaging	Het
Lats1	T	C	10: 7,588,506 (GRCm39)	V1041A	possibly damaging	Het
Mthfd1l	A	T	10: 3,989,971 (GRCm38)		probably benign	Het
Or7g18	T	A	9: 18,787,310 (GRCm39)	L226*	probably null	Het
Ptbp3	A	G	4: 59,477,228 (GRCm39)	S487P	probably benign	Het
Rpl7a	T	C	2: 26,801,067 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,848,289 (GRCm39)		probably benign	Het
Sptan1	G	T	2: 29,905,622 (GRCm39)	A1579S	probably damaging	Het
Tcl1b5	A	T	12: 105,142,759 (GRCm39)	H29L	probably benign	Het
Ttll5	A	T	12: 85,976,681 (GRCm39)	N811Y	probably damaging	Het
Vmn2r111	T	A	17: 22,767,734 (GRCm39)	M588L	probably benign	Het

Other mutations in Rpgrip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rpgrip1l	APN	8	91,990,202 (GRCm39)	missense	possibly damaging	0.52
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

2013-04-17