Incidental Mutation 'R7145:Rpgrip1l'
ID |
553716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
045223-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7145 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 91959434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,775,820 (GRCm39) |
Y1670H |
probably damaging |
Het |
Abca12 |
T |
C |
1: 71,346,212 (GRCm39) |
K886R |
possibly damaging |
Het |
Adcy3 |
G |
A |
12: 4,250,992 (GRCm39) |
E584K |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,693,205 (GRCm39) |
V131D |
probably benign |
Het |
Arhgdig |
C |
T |
17: 26,418,337 (GRCm39) |
W215* |
probably null |
Het |
Cad |
G |
T |
5: 31,224,956 (GRCm39) |
W953L |
possibly damaging |
Het |
Calhm2 |
T |
C |
19: 47,124,080 (GRCm39) |
Y88C |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,156,468 (GRCm39) |
D1681E |
probably benign |
Het |
Cenpl |
T |
A |
1: 160,910,482 (GRCm39) |
L143H |
possibly damaging |
Het |
Cherp |
T |
C |
8: 73,222,230 (GRCm39) |
K270E |
|
Het |
Cmss1 |
A |
G |
16: 57,131,718 (GRCm39) |
I136T |
probably benign |
Het |
Col23a1 |
T |
C |
11: 51,456,050 (GRCm39) |
|
probably null |
Het |
Crnn |
C |
A |
3: 93,055,689 (GRCm39) |
D158E |
probably damaging |
Het |
Dnmt3a |
A |
T |
12: 3,922,844 (GRCm39) |
Q149L |
probably benign |
Het |
Dst |
T |
A |
1: 34,228,963 (GRCm39) |
N2185K |
probably benign |
Het |
Eif1ad18 |
G |
T |
12: 88,050,597 (GRCm39) |
C44F |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,737,126 (GRCm39) |
N25K |
probably benign |
Het |
Ephb4 |
A |
T |
5: 137,370,308 (GRCm39) |
D845V |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,201,627 (GRCm39) |
T561A |
probably damaging |
Het |
F3 |
G |
T |
3: 121,525,235 (GRCm39) |
V159L |
probably damaging |
Het |
Fam81a |
A |
T |
9: 70,017,560 (GRCm39) |
D128E |
probably damaging |
Het |
Flot1 |
T |
G |
17: 36,135,835 (GRCm39) |
H155Q |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,507 (GRCm39) |
K102N |
probably damaging |
Het |
Gm6309 |
T |
C |
5: 146,107,100 (GRCm39) |
Q82R |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,522,992 (GRCm39) |
N102D |
probably damaging |
Het |
Lamc2 |
C |
G |
1: 153,006,518 (GRCm39) |
A878P |
possibly damaging |
Het |
Lepr |
C |
T |
4: 101,609,394 (GRCm39) |
T327I |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,285,152 (GRCm39) |
|
probably null |
Het |
Ly86 |
A |
G |
13: 37,560,986 (GRCm39) |
K116E |
probably damaging |
Het |
Mapk8ip2 |
T |
A |
15: 89,343,201 (GRCm39) |
F648I |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,566,876 (GRCm39) |
T1881I |
unknown |
Het |
Myh13 |
T |
G |
11: 67,245,566 (GRCm39) |
S1069A |
probably benign |
Het |
Myh4 |
T |
A |
11: 67,151,054 (GRCm39) |
I1903N |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,965,545 (GRCm39) |
L1341* |
probably null |
Het |
Naa25 |
G |
T |
5: 121,555,552 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Ncapg |
C |
T |
5: 45,827,372 (GRCm39) |
A3V |
possibly damaging |
Het |
Ncln |
T |
C |
10: 81,324,086 (GRCm39) |
H481R |
probably benign |
Het |
Nek4 |
C |
A |
14: 30,704,305 (GRCm39) |
Q607K |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,796,462 (GRCm39) |
Y1182C |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,615,692 (GRCm39) |
N165S |
probably benign |
Het |
Or2l5 |
C |
G |
16: 19,333,649 (GRCm39) |
V246L |
probably damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,721 (GRCm39) |
S215L |
probably damaging |
Het |
Or8b8 |
A |
G |
9: 37,808,859 (GRCm39) |
H53R |
probably benign |
Het |
Or8k30 |
T |
C |
2: 86,338,872 (GRCm39) |
L23P |
probably damaging |
Het |
Otulin |
T |
C |
15: 27,608,856 (GRCm39) |
Y229C |
probably damaging |
Het |
Palld |
A |
T |
8: 61,985,051 (GRCm39) |
D1071E |
unknown |
Het |
Pcdhb20 |
T |
C |
18: 37,638,142 (GRCm39) |
S223P |
probably damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,840,781 (GRCm39) |
I167N |
probably damaging |
Het |
Pcdhgb4 |
A |
G |
18: 37,854,843 (GRCm39) |
N413D |
probably benign |
Het |
Pcdhgb8 |
T |
A |
18: 37,896,050 (GRCm39) |
Y373* |
probably null |
Het |
Plxna2 |
G |
T |
1: 194,331,830 (GRCm39) |
V419L |
probably benign |
Het |
Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
Scaper |
C |
T |
9: 55,819,395 (GRCm39) |
D107N |
unknown |
Het |
Scgb2b3 |
T |
A |
7: 31,059,573 (GRCm39) |
Y67F |
probably benign |
Het |
Scn5a |
G |
A |
9: 119,315,437 (GRCm39) |
T1757I |
probably damaging |
Het |
Sgo2b |
G |
A |
8: 64,381,218 (GRCm39) |
P538L |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,298,797 (GRCm39) |
K72R |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,685,202 (GRCm39) |
T1409S |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,867,030 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
T |
C |
7: 45,383,056 (GRCm39) |
E242G |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,663,687 (GRCm39) |
H64Q |
probably damaging |
Het |
Tle6 |
T |
C |
10: 81,435,910 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmem115 |
T |
C |
9: 107,412,285 (GRCm39) |
V203A |
probably benign |
Het |
Tmem45b |
G |
A |
9: 31,340,337 (GRCm39) |
T108I |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,153,079 (GRCm39) |
D331E |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,029,377 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r27 |
C |
A |
6: 124,168,711 (GRCm39) |
R806S |
probably benign |
Het |
Vmn2r59 |
G |
A |
7: 41,695,188 (GRCm39) |
A408V |
probably damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
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 |
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 |
|
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'- AGTTATCACTTTCCCGGTGC -3'
(R):5'- GCCATCAGAAGAAATTCGGATTGAG -3'
Sequencing Primer
(F):5'- CGTGTTTTCTCTAATTTTACAACGAC -3'
(R):5'- CGGATTGAGATCATAGCTCTGAACC -3'
|
Posted On |
2019-05-15 |