Incidental Mutation 'IGL02825:Rpgrip1l'
| ID |
361165 |
| 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 # |
IGL02825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92031433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 148
(T148M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000132757]
[ENSMUST00000139113]
|
| AlphaFold |
Q8CG73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047783
AA Change: T148M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: T148M
| 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: ENSMUST00000132757
|
| SMART Domains |
Protein: ENSMUSP00000120818
Gene: ENSMUSG00000033282
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
56 |
78 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139113
AA Change: T148M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282
AA Change: T148M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209619
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
| Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,862,125 (GRCm39) |
M232K |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
| Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,502,592 (GRCm39) |
V575D |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,585 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrpl19 |
G |
T |
6: 81,942,796 (GRCm39) |
T38K |
probably benign |
Het |
| Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
| Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,083,509 (GRCm39) |
K587R |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
| Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
| Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
| Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
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 |
|
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 |
2015-12-18 |
Incidental Mutation