Incidental Mutation 'IGL01634:Rpgrip1l'
ID 93527
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 # IGL01634
Quality Score
Status
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91979171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 998 (S998I)
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect probably benign
Transcript: ENSMUST00000047783
AA Change: S998I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: S998I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209616
AA Change: S219I
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,633,016 (GRCm39) noncoding transcript Het
4933421I07Rik C T 7: 42,097,123 (GRCm39) D63N probably benign Het
Alg9 C A 9: 50,686,677 (GRCm39) probably null Het
Anln T C 9: 22,271,771 (GRCm39) T695A probably benign Het
Aox4 G T 1: 58,261,089 (GRCm39) D141Y possibly damaging Het
Arhgap21 C A 2: 20,919,455 (GRCm39) Q84H probably benign Het
Arnt G A 3: 95,377,709 (GRCm39) probably benign Het
Atp8a2 T A 14: 60,235,511 (GRCm39) Y677F probably benign Het
Car6 C T 4: 150,282,610 (GRCm39) V12M probably benign Het
Cd209d A T 8: 3,927,974 (GRCm39) probably null Het
Ctnna1 T A 18: 35,356,501 (GRCm39) V390E probably damaging Het
Cypt4 T A 9: 24,536,952 (GRCm39) N147K possibly damaging Het
Dnah10 C A 5: 124,898,405 (GRCm39) A3729E probably damaging Het
Dusp8 A G 7: 141,638,160 (GRCm39) V156A probably benign Het
Ecm1 G A 3: 95,642,211 (GRCm39) P458L probably damaging Het
Fat3 T G 9: 15,909,654 (GRCm39) Y2116S probably damaging Het
Fscn3 T A 6: 28,430,537 (GRCm39) Y236N probably damaging Het
Gaa G A 11: 119,164,902 (GRCm39) S265N possibly damaging Het
Gas7 T C 11: 67,565,057 (GRCm39) probably benign Het
Gbp8 T C 5: 105,166,438 (GRCm39) K297R probably damaging Het
Gm1818 G A 12: 48,602,992 (GRCm39) noncoding transcript Het
Gm5114 G T 7: 39,058,071 (GRCm39) T516K probably benign Het
Hectd1 A G 12: 51,850,562 (GRCm39) S165P probably damaging Het
Hoxb4 G T 11: 96,209,726 (GRCm39) R44L probably damaging Het
Ivd G A 2: 118,706,863 (GRCm39) R285H probably damaging Het
Krtap20-2 T C 16: 89,002,977 (GRCm39) F59S unknown Het
Megf8 G A 7: 25,058,206 (GRCm39) probably benign Het
Mgat4d A T 8: 84,094,745 (GRCm39) M261L possibly damaging Het
Mlc1 A T 15: 88,858,921 (GRCm39) probably benign Het
Mmp20 T A 9: 7,635,149 (GRCm39) Y43* probably null Het
Morc3 G A 16: 93,670,125 (GRCm39) V767I probably benign Het
Myo15a A G 11: 60,386,298 (GRCm39) T1808A probably damaging Het
Notch4 T C 17: 34,791,562 (GRCm39) F574L probably damaging Het
Npas3 G A 12: 53,993,946 (GRCm39) V164M probably damaging Het
Nptx1 A G 11: 119,435,498 (GRCm39) Y273H probably damaging Het
Oaf T C 9: 43,135,301 (GRCm39) N159S probably damaging Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or4c111 T A 2: 88,843,788 (GRCm39) I207F probably damaging Het
Or5ak24 A T 2: 85,260,783 (GRCm39) L130H probably damaging Het
Pgm2 T C 5: 64,258,317 (GRCm39) F101L probably benign Het
Pkd1l3 A C 8: 110,394,157 (GRCm39) probably null Het
Plcd1 C T 9: 118,902,857 (GRCm39) R527H probably damaging Het
Rexo2 C T 9: 48,380,215 (GRCm39) E206K probably damaging Het
Ropn1 C A 16: 34,487,148 (GRCm39) T28N possibly damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Scap T C 9: 110,207,857 (GRCm39) probably null Het
Sec23b T C 2: 144,401,150 (GRCm39) Y4H probably damaging Het
Sfrp4 C A 13: 19,807,800 (GRCm39) D66E possibly damaging Het
Slc25a36 T C 9: 96,962,534 (GRCm39) T13A probably benign Het
Synpr A T 14: 13,608,576 (GRCm38) I119F possibly damaging Het
Tamm41 A C 6: 114,993,059 (GRCm39) H109Q probably benign Het
Tet1 A T 10: 62,714,367 (GRCm39) I476K possibly damaging Het
Tg A T 15: 66,601,415 (GRCm39) I142F probably benign Het
Thada A T 17: 84,700,786 (GRCm39) probably null Het
Triobp T C 15: 78,877,568 (GRCm39) L1654P probably damaging Het
Trpm7 A G 2: 126,668,738 (GRCm39) V726A probably damaging Het
Txndc15 T G 13: 55,869,438 (GRCm39) V197G probably damaging Het
Ubr3 A T 2: 69,803,916 (GRCm39) T1169S probably benign Het
Uhmk1 C T 1: 170,034,682 (GRCm39) probably null Het
Vmn2r16 T A 5: 109,488,177 (GRCm39) M350K probably benign Het
Vmn2r77 G A 7: 86,460,857 (GRCm39) V728I probably benign Het
Wipf1 G A 2: 73,278,225 (GRCm39) P7S unknown Het
Zswim3 A G 2: 164,661,922 (GRCm39) D134G probably damaging Het
Other mutations in Rpgrip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rpgrip1l APN 8 91,990,202 (GRCm39) missense possibly damaging 0.52
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
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 2013-12-09