Incidental Mutation 'R4118:Rpgrip1l'
ID |
315171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
041631-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4118 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 91979535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 969
(T969I)
|
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: T969I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: T969I
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000209616
AA Change: T190I
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
92% (55/60) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
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 |
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 |
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'- GTACCACAGTAAAGACGGGCTC -3'
(R):5'- AACCAGAGGCTGTTCAGAGAC -3'
Sequencing Primer
(F):5'- TAAAGACGGGCTCTGCTTAC -3'
(R):5'- AGAGGCTGTTCAGAGACTACCTC -3'
|
Posted On |
2015-05-14 |