Incidental Mutation 'IGL03184:Rpgrip1l'
ID |
412367 |
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)
|
Stock # |
IGL03184
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92027437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 201
(L201F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047783
AA Change: L201F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: L201F
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 damaging
Transcript: ENSMUST00000139113
AA Change: L201F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118230 Gene: ENSMUSG00000033282 AA Change: L201F
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
Adcy7 |
T |
A |
8: 89,035,271 (GRCm39) |
D58E |
probably benign |
Het |
Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
Kirrel3 |
T |
C |
9: 34,919,052 (GRCm39) |
F243S |
probably damaging |
Het |
Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
Serpinb2 |
T |
A |
1: 107,452,607 (GRCm39) |
L395H |
probably damaging |
Het |
Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,297,995 (GRCm39) |
D570G |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
probably null |
Het |
Zfp808 |
A |
G |
13: 62,317,381 (GRCm39) |
I43M |
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 |
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 |
2016-08-02 |