Incidental Mutation 'IGL01634:Rpgrip1l'
ID |
93527 |
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 # |
IGL01634
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 91979171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 998
(S998I)
|
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: S998I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: S998I
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: S219I
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034H15Rik |
A |
T |
1: 191,633,016 (GRCm39) |
|
noncoding transcript |
Het |
4933421I07Rik |
C |
T |
7: 42,097,123 (GRCm39) |
D63N |
probably benign |
Het |
Alg9 |
C |
A |
9: 50,686,677 (GRCm39) |
|
probably null |
Het |
Anln |
T |
C |
9: 22,271,771 (GRCm39) |
T695A |
probably benign |
Het |
Aox4 |
G |
T |
1: 58,261,089 (GRCm39) |
D141Y |
possibly damaging |
Het |
Arhgap21 |
C |
A |
2: 20,919,455 (GRCm39) |
Q84H |
probably benign |
Het |
Arnt |
G |
A |
3: 95,377,709 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
T |
A |
14: 60,235,511 (GRCm39) |
Y677F |
probably benign |
Het |
Car6 |
C |
T |
4: 150,282,610 (GRCm39) |
V12M |
probably benign |
Het |
Cd209d |
A |
T |
8: 3,927,974 (GRCm39) |
|
probably null |
Het |
Ctnna1 |
T |
A |
18: 35,356,501 (GRCm39) |
V390E |
probably damaging |
Het |
Cypt4 |
T |
A |
9: 24,536,952 (GRCm39) |
N147K |
possibly damaging |
Het |
Dnah10 |
C |
A |
5: 124,898,405 (GRCm39) |
A3729E |
probably damaging |
Het |
Dusp8 |
A |
G |
7: 141,638,160 (GRCm39) |
V156A |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,642,211 (GRCm39) |
P458L |
probably damaging |
Het |
Fat3 |
T |
G |
9: 15,909,654 (GRCm39) |
Y2116S |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,430,537 (GRCm39) |
Y236N |
probably damaging |
Het |
Gaa |
G |
A |
11: 119,164,902 (GRCm39) |
S265N |
possibly damaging |
Het |
Gas7 |
T |
C |
11: 67,565,057 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,166,438 (GRCm39) |
K297R |
probably damaging |
Het |
Gm1818 |
G |
A |
12: 48,602,992 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
G |
T |
7: 39,058,071 (GRCm39) |
T516K |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,850,562 (GRCm39) |
S165P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,726 (GRCm39) |
R44L |
probably damaging |
Het |
Ivd |
G |
A |
2: 118,706,863 (GRCm39) |
R285H |
probably damaging |
Het |
Krtap20-2 |
T |
C |
16: 89,002,977 (GRCm39) |
F59S |
unknown |
Het |
Megf8 |
G |
A |
7: 25,058,206 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
A |
T |
8: 84,094,745 (GRCm39) |
M261L |
possibly damaging |
Het |
Mlc1 |
A |
T |
15: 88,858,921 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
T |
A |
9: 7,635,149 (GRCm39) |
Y43* |
probably null |
Het |
Morc3 |
G |
A |
16: 93,670,125 (GRCm39) |
V767I |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,386,298 (GRCm39) |
T1808A |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,791,562 (GRCm39) |
F574L |
probably damaging |
Het |
Npas3 |
G |
A |
12: 53,993,946 (GRCm39) |
V164M |
probably damaging |
Het |
Nptx1 |
A |
G |
11: 119,435,498 (GRCm39) |
Y273H |
probably damaging |
Het |
Oaf |
T |
C |
9: 43,135,301 (GRCm39) |
N159S |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,843,788 (GRCm39) |
I207F |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,783 (GRCm39) |
L130H |
probably damaging |
Het |
Pgm2 |
T |
C |
5: 64,258,317 (GRCm39) |
F101L |
probably benign |
Het |
Pkd1l3 |
A |
C |
8: 110,394,157 (GRCm39) |
|
probably null |
Het |
Plcd1 |
C |
T |
9: 118,902,857 (GRCm39) |
R527H |
probably damaging |
Het |
Rexo2 |
C |
T |
9: 48,380,215 (GRCm39) |
E206K |
probably damaging |
Het |
Ropn1 |
C |
A |
16: 34,487,148 (GRCm39) |
T28N |
possibly damaging |
Het |
Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
Scap |
T |
C |
9: 110,207,857 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,401,150 (GRCm39) |
Y4H |
probably damaging |
Het |
Sfrp4 |
C |
A |
13: 19,807,800 (GRCm39) |
D66E |
possibly damaging |
Het |
Slc25a36 |
T |
C |
9: 96,962,534 (GRCm39) |
T13A |
probably benign |
Het |
Synpr |
A |
T |
14: 13,608,576 (GRCm38) |
I119F |
possibly damaging |
Het |
Tamm41 |
A |
C |
6: 114,993,059 (GRCm39) |
H109Q |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,714,367 (GRCm39) |
I476K |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,601,415 (GRCm39) |
I142F |
probably benign |
Het |
Thada |
A |
T |
17: 84,700,786 (GRCm39) |
|
probably null |
Het |
Triobp |
T |
C |
15: 78,877,568 (GRCm39) |
L1654P |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,668,738 (GRCm39) |
V726A |
probably damaging |
Het |
Txndc15 |
T |
G |
13: 55,869,438 (GRCm39) |
V197G |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,803,916 (GRCm39) |
T1169S |
probably benign |
Het |
Uhmk1 |
C |
T |
1: 170,034,682 (GRCm39) |
|
probably null |
Het |
Vmn2r16 |
T |
A |
5: 109,488,177 (GRCm39) |
M350K |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,460,857 (GRCm39) |
V728I |
probably benign |
Het |
Wipf1 |
G |
A |
2: 73,278,225 (GRCm39) |
P7S |
unknown |
Het |
Zswim3 |
A |
G |
2: 164,661,922 (GRCm39) |
D134G |
probably 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 |
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 |
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 |
2013-12-09 |