Incidental Mutation 'R7673:Rpgrip1l'
ID |
592313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
045743-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7673 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92027415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 208
(I208K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047783
AA Change: I208K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: I208K
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 |
possibly damaging
Transcript: ENSMUST00000139113
AA Change: I208K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118230 Gene: ENSMUSG00000033282 AA Change: I208K
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,030,555 (GRCm39) |
A682S |
probably benign |
Het |
Acad11 |
A |
T |
9: 103,941,105 (GRCm39) |
|
probably null |
Het |
Ahctf1 |
A |
T |
1: 179,590,411 (GRCm39) |
D1287E |
probably benign |
Het |
Aldh9a1 |
C |
A |
1: 167,189,119 (GRCm39) |
L360M |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,826,331 (GRCm39) |
I1667F |
|
Het |
Atp8b3 |
A |
G |
10: 80,360,240 (GRCm39) |
Y944H |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,210,369 (GRCm39) |
D316G |
probably damaging |
Het |
Ccdc50 |
T |
C |
16: 27,225,425 (GRCm39) |
I46T |
possibly damaging |
Het |
Cfap74 |
T |
G |
4: 155,547,513 (GRCm39) |
I1233S |
unknown |
Het |
Chd9 |
A |
G |
8: 91,778,325 (GRCm39) |
M2779V |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,629 (GRCm39) |
D1486E |
probably benign |
Het |
Creb3 |
T |
C |
4: 43,563,117 (GRCm39) |
V72A |
not run |
Het |
Cxcl17 |
C |
A |
7: 25,102,293 (GRCm39) |
C50F |
probably damaging |
Het |
Dcaf11 |
C |
A |
14: 55,806,762 (GRCm39) |
N528K |
probably benign |
Het |
Ddx46 |
T |
C |
13: 55,806,972 (GRCm39) |
V535A |
probably benign |
Het |
Det1 |
A |
T |
7: 78,493,359 (GRCm39) |
V215D |
possibly damaging |
Het |
Dnaja3 |
A |
G |
16: 4,512,328 (GRCm39) |
N244S |
probably benign |
Het |
Dnajc13 |
G |
T |
9: 104,110,891 (GRCm39) |
P127T |
probably benign |
Het |
Dnm2 |
T |
A |
9: 21,392,717 (GRCm39) |
|
probably null |
Het |
Fam117a |
G |
T |
11: 95,262,322 (GRCm39) |
R142L |
probably benign |
Het |
Fpr-rs6 |
T |
C |
17: 20,402,999 (GRCm39) |
M121V |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,696,867 (GRCm39) |
T95A |
probably benign |
Het |
Gdap2 |
A |
G |
3: 100,099,015 (GRCm39) |
D369G |
probably benign |
Het |
Gm12185 |
A |
T |
11: 48,798,455 (GRCm39) |
D679E |
probably benign |
Het |
Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
Gmeb2 |
T |
A |
2: 180,902,181 (GRCm39) |
H123L |
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,734,031 (GRCm39) |
P1134S |
probably benign |
Het |
Gsdmc2 |
G |
T |
15: 63,696,932 (GRCm39) |
A413D |
probably damaging |
Het |
Hck |
C |
T |
2: 152,971,005 (GRCm39) |
A89V |
possibly damaging |
Het |
Heatr5b |
G |
A |
17: 79,103,412 (GRCm39) |
T1147M |
probably damaging |
Het |
Hoxb2 |
A |
T |
11: 96,244,283 (GRCm39) |
D298V |
possibly damaging |
Het |
Hrc |
A |
G |
7: 44,986,658 (GRCm39) |
E603G |
probably benign |
Het |
Hsd3b5 |
C |
A |
3: 98,526,757 (GRCm39) |
A230S |
probably damaging |
Het |
Hsh2d |
A |
G |
8: 72,954,355 (GRCm39) |
S246G |
probably benign |
Het |
Ifna4 |
A |
C |
4: 88,760,309 (GRCm39) |
Q71P |
possibly damaging |
Het |
Il4i1 |
A |
G |
7: 44,489,786 (GRCm39) |
E517G |
probably benign |
Het |
Kdm6b |
A |
C |
11: 69,296,568 (GRCm39) |
S566R |
probably damaging |
Het |
Lamc2 |
T |
A |
1: 152,999,782 (GRCm39) |
Q1192H |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,452,933 (GRCm39) |
S608P |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,892,468 (GRCm39) |
E340G |
probably damaging |
Het |
Mcm3 |
A |
G |
1: 20,882,238 (GRCm39) |
L442P |
probably damaging |
Het |
Mreg |
A |
C |
1: 72,200,123 (GRCm39) |
M189R |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,136,339 (GRCm39) |
R406W |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,818,256 (GRCm39) |
D842G |
probably benign |
Het |
Nrros |
T |
A |
16: 31,981,099 (GRCm39) |
I10F |
unknown |
Het |
Obscn |
G |
A |
11: 58,918,263 (GRCm39) |
P210S |
|
Het |
Or4f59 |
T |
A |
2: 111,872,925 (GRCm39) |
M151L |
probably benign |
Het |
Or5g29 |
T |
C |
2: 85,421,406 (GRCm39) |
I174T |
possibly damaging |
Het |
Or8b40 |
A |
T |
9: 38,027,523 (GRCm39) |
T149S |
probably benign |
Het |
Or8k38 |
T |
C |
2: 86,488,070 (GRCm39) |
H244R |
probably damaging |
Het |
Orai1 |
A |
G |
5: 123,167,505 (GRCm39) |
H226R |
probably benign |
Het |
Pcdhb18 |
G |
T |
18: 37,624,790 (GRCm39) |
V707L |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,376,342 (GRCm39) |
L420Q |
probably damaging |
Het |
Rab8a |
A |
G |
8: 72,915,140 (GRCm39) |
|
probably benign |
Het |
Rexo4 |
G |
A |
2: 26,848,505 (GRCm39) |
H339Y |
probably benign |
Het |
Rif1 |
G |
A |
2: 51,978,666 (GRCm39) |
V369M |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,551,279 (GRCm39) |
P68L |
probably benign |
Het |
Selenop |
G |
T |
15: 3,304,340 (GRCm39) |
C62F |
probably damaging |
Het |
Slc13a4 |
A |
T |
6: 35,253,411 (GRCm39) |
V397D |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,533,995 (GRCm39) |
V1114A |
probably damaging |
Het |
Stard3nl |
A |
T |
13: 19,551,923 (GRCm39) |
S214T |
probably benign |
Het |
Stra8 |
T |
A |
6: 34,904,853 (GRCm39) |
|
probably null |
Het |
Stx8 |
T |
C |
11: 67,875,465 (GRCm39) |
F97L |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,843,487 (GRCm39) |
|
probably null |
Het |
Tmem94 |
T |
C |
11: 115,679,204 (GRCm39) |
I251T |
probably benign |
Het |
Top6bl |
A |
C |
19: 4,695,661 (GRCm39) |
D530E |
probably damaging |
Het |
Toporsl |
A |
T |
4: 52,610,679 (GRCm39) |
T191S |
probably damaging |
Het |
Vmn1r53 |
T |
A |
6: 90,200,625 (GRCm39) |
E233V |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,358,214 (GRCm39) |
L177Q |
probably damaging |
Het |
Wnt8b |
T |
C |
19: 44,500,127 (GRCm39) |
L238P |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,347,431 (GRCm39) |
V3224A |
probably damaging |
Het |
Zfp583 |
G |
T |
7: 6,320,009 (GRCm39) |
N334K |
possibly damaging |
Het |
Zfp60 |
T |
A |
7: 27,447,740 (GRCm39) |
I136N |
probably benign |
Het |
Zmynd15 |
G |
T |
11: 70,356,866 (GRCm39) |
R722L |
unknown |
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 |
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 |
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'- AGCAGGATAACCTAGCCAGTC -3'
(R):5'- CTGCTGCTCTTTGTAAGAACAC -3'
Sequencing Primer
(F):5'- GCCAGTCCTTGTATTTTACTGAGAAC -3'
(R):5'- GCTGCTCTTTGTAAGAACACATGTAG -3'
|
Posted On |
2019-11-12 |