Incidental Mutation 'R0490:Rpgrip1l'
ID |
43447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
038688-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0490 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 92026473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047783
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
100% (60/60) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,103,338 (GRCm39) |
Y640N |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,849,847 (GRCm39) |
Q402L |
probably benign |
Het |
Als2cl |
A |
G |
9: 110,724,414 (GRCm39) |
T750A |
probably benign |
Het |
Ank1 |
C |
A |
8: 23,597,890 (GRCm39) |
|
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,888,106 (GRCm39) |
N404K |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,586,190 (GRCm39) |
|
probably benign |
Het |
Bean1 |
A |
T |
8: 104,941,660 (GRCm39) |
T169S |
possibly damaging |
Het |
Bod1l |
G |
T |
5: 41,979,235 (GRCm39) |
T693N |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,536,970 (GRCm39) |
V226D |
probably benign |
Het |
Cd48 |
A |
G |
1: 171,532,445 (GRCm39) |
*241W |
probably null |
Het |
Cdon |
C |
A |
9: 35,363,978 (GRCm39) |
S32Y |
probably damaging |
Het |
Cers3 |
A |
G |
7: 66,423,438 (GRCm39) |
S128G |
possibly damaging |
Het |
Cntn6 |
T |
C |
6: 104,810,879 (GRCm39) |
V641A |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,890,969 (GRCm39) |
T1775I |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,919,393 (GRCm39) |
V1122A |
probably benign |
Het |
Dst |
G |
T |
1: 34,346,449 (GRCm39) |
G5102* |
probably null |
Het |
Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
Epha5 |
G |
T |
5: 84,255,833 (GRCm39) |
|
probably benign |
Het |
Fscb |
G |
A |
12: 64,519,661 (GRCm39) |
P602S |
unknown |
Het |
Fxn |
A |
G |
19: 24,254,543 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,808,291 (GRCm39) |
L254P |
possibly damaging |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Gng8 |
A |
G |
7: 16,628,908 (GRCm39) |
T14A |
probably benign |
Het |
Gsdmc3 |
C |
T |
15: 63,732,099 (GRCm39) |
G309D |
possibly damaging |
Het |
Gsr |
T |
A |
8: 34,161,540 (GRCm39) |
|
probably benign |
Het |
Gtdc1 |
A |
T |
2: 44,525,052 (GRCm39) |
D152E |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,392,281 (GRCm39) |
D4063G |
probably damaging |
Het |
Hsdl2 |
C |
T |
4: 59,612,814 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
T |
C |
3: 88,021,363 (GRCm39) |
|
probably benign |
Het |
Kcnj10 |
A |
G |
1: 172,197,019 (GRCm39) |
T178A |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,821,962 (GRCm39) |
I2958F |
possibly damaging |
Het |
Lnx1 |
T |
A |
5: 74,781,008 (GRCm39) |
|
probably null |
Het |
Lpl |
A |
G |
8: 69,349,343 (GRCm39) |
R290G |
probably damaging |
Het |
Mamdc4 |
C |
T |
2: 25,453,593 (GRCm39) |
R1196K |
probably benign |
Het |
Mogat2 |
T |
C |
7: 98,872,351 (GRCm39) |
S167G |
probably benign |
Het |
Nek8 |
T |
A |
11: 78,058,555 (GRCm39) |
I582F |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,864 (GRCm39) |
D1237E |
probably damaging |
Het |
Or2y8 |
A |
G |
11: 52,035,493 (GRCm39) |
I288T |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,176 (GRCm39) |
Y279H |
probably damaging |
Het |
Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,219 (GRCm39) |
L245P |
probably damaging |
Het |
Pcdhb8 |
T |
C |
18: 37,489,833 (GRCm39) |
S504P |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,226,451 (GRCm39) |
S223P |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,806,450 (GRCm39) |
I566V |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,495 (GRCm39) |
S549P |
probably damaging |
Het |
Rita1 |
A |
T |
5: 120,749,630 (GRCm39) |
F28I |
probably damaging |
Het |
Slc1a1 |
A |
G |
19: 28,874,931 (GRCm39) |
K170E |
probably benign |
Het |
Spag17 |
C |
T |
3: 99,889,727 (GRCm39) |
R199W |
probably damaging |
Het |
Tas2r116 |
T |
C |
6: 132,832,984 (GRCm39) |
V195A |
probably benign |
Het |
Trav7d-3 |
C |
A |
14: 52,982,007 (GRCm39) |
|
probably benign |
Het |
Trim15 |
T |
C |
17: 37,177,247 (GRCm39) |
K138E |
probably benign |
Het |
Ttn |
T |
A |
2: 76,539,174 (GRCm39) |
H34604L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,577,876 (GRCm39) |
R16012K |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,808,296 (GRCm39) |
V496A |
probably benign |
Het |
Zfy2 |
A |
T |
Y: 2,106,620 (GRCm39) |
S671R |
possibly damaging |
Het |
Zswim1 |
T |
A |
2: 164,667,203 (GRCm39) |
Y152N |
possibly damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAATGTGATGACTTCCCTGGGAC -3'
(R):5'- ACATGGACTTCAGCTCTGGCTTTC -3'
Sequencing Primer
(F):5'- TGACTTCCCTGGGACAATTCAAG -3'
(R):5'- CTAGTTCATCAGCGCCTAGAG -3'
|
Posted On |
2013-05-23 |