Incidental Mutation 'R7064:Rpgrip1l'
| ID |
548451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpgrip1l
|
| Ensembl Gene |
ENSMUSG00000033282 |
| Gene Name |
Rpgrip1-like |
| Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
| MMRRC Submission |
045160-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 91990148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 765
(K765*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
| AlphaFold |
Q8CG73 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047783
AA Change: K765*
|
| SMART Domains |
Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: K765*
| 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 |
probably benign
Transcript: ENSMUST00000209616
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| Aadat |
T |
C |
8: 60,984,746 (GRCm39) |
I263T |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,278 (GRCm39) |
P830S |
possibly damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,456 (GRCm39) |
F218S |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,746,919 (GRCm39) |
|
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,986 (GRCm39) |
V244E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,419,181 (GRCm39) |
E757G |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,685,865 (GRCm39) |
D147G |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,810,134 (GRCm39) |
M92L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,983 (GRCm39) |
D2458G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,250,772 (GRCm39) |
I259V |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,077,218 (GRCm39) |
V250A |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,678 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
A |
T |
7: 26,011,732 (GRCm39) |
M318L |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,412,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Decr1 |
C |
A |
4: 15,945,392 (GRCm39) |
|
|
Het |
| Dmbx1 |
T |
C |
4: 115,775,465 (GRCm39) |
N272D |
probably damaging |
Het |
| Dsel |
C |
A |
1: 111,790,577 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,804 (GRCm39) |
D389A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,049 (GRCm39) |
T52A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,557 (GRCm39) |
E2229G |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,472,803 (GRCm39) |
V127M |
probably damaging |
Het |
| Gpc2 |
A |
T |
5: 138,277,172 (GRCm39) |
F85Y |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,764 (GRCm39) |
L793S |
probably benign |
Het |
| Irag1 |
C |
G |
7: 110,495,061 (GRCm39) |
E455Q |
probably damaging |
Het |
| Itpr3 |
G |
C |
17: 27,308,269 (GRCm39) |
G298R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,038,261 (GRCm39) |
C1024S |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,430,954 (GRCm39) |
Y185C |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,121,615 (GRCm39) |
D227N |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,524 (GRCm39) |
L1184* |
probably null |
Het |
| Or10s1 |
T |
A |
9: 39,986,109 (GRCm39) |
Y173N |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,634 (GRCm39) |
R227W |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,759,853 (GRCm39) |
M269L |
probably benign |
Het |
| Parp9 |
T |
G |
16: 35,774,042 (GRCm39) |
V338G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,446 (GRCm39) |
E888K |
possibly damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,585 (GRCm39) |
E862K |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,608,317 (GRCm39) |
T3040A |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,464 (GRCm39) |
E1026G |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,580 (GRCm39) |
R282* |
probably null |
Het |
| Rprd2 |
G |
A |
3: 95,672,328 (GRCm39) |
T1025M |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,212,983 (GRCm39) |
Y1341H |
possibly damaging |
Het |
| Scn5a |
C |
G |
9: 119,318,977 (GRCm39) |
D1554H |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,870 (GRCm39) |
I102V |
probably benign |
Het |
| Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,925,834 (GRCm39) |
G291R |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,720 (GRCm39) |
V418A |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,076,078 (GRCm39) |
T24A |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,955 (GRCm39) |
S368P |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,012,925 (GRCm39) |
D53G |
probably benign |
Het |
| Stk36 |
T |
C |
1: 74,649,979 (GRCm39) |
W245R |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,189,156 (GRCm39) |
|
probably null |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,194,288 (GRCm39) |
P1163S |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,186 (GRCm39) |
N263K |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,883,995 (GRCm39) |
M333V |
probably benign |
Het |
| Tmem45a |
T |
C |
16: 56,642,767 (GRCm39) |
M135V |
probably benign |
Het |
| Trmt13 |
T |
A |
3: 116,376,346 (GRCm39) |
K348N |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,070,868 (GRCm39) |
M534L |
probably damaging |
Het |
| Ttll13 |
G |
A |
7: 79,906,778 (GRCm39) |
R513K |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Washc3 |
T |
C |
10: 88,081,635 (GRCm39) |
V173A |
possibly damaging |
Het |
| Zc2hc1b |
A |
T |
10: 13,047,049 (GRCm39) |
C21S |
probably damaging |
Het |
| Zfp944 |
T |
A |
17: 22,558,560 (GRCm39) |
H229L |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,573 (GRCm39) |
I147N |
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 |
|
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'- TATGCTGTAACTGAGAGAAAGTAGCAC -3'
(R):5'- TGACTCTTTTAACAGTGGGTCATG -3'
Sequencing Primer
(F):5'- ATACAAGCCAACTCTACTGTTCCTG -3'
(R):5'- CTCTTTTAACAGTGGGTCATGTATTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation