Incidental Mutation 'R0599:Rpgrip1l'
ID |
55228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
038788-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0599 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92031628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 83
(I83T)
|
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: I83T
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: I83T
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 |
probably damaging
Transcript: ENSMUST00000139113
AA Change: I83T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118230 Gene: ENSMUSG00000033282 AA Change: I83T
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
|
Meta Mutation Damage Score |
0.1197 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
98% (80/82) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,529,208 (GRCm39) |
L978P |
probably damaging |
Het |
Abcb1a |
C |
T |
5: 8,748,539 (GRCm39) |
T290M |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,558,742 (GRCm39) |
F585I |
probably damaging |
Het |
Abtb3 |
G |
A |
10: 85,494,200 (GRCm39) |
G1106D |
probably damaging |
Het |
Acan |
A |
G |
7: 78,761,038 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
C |
11: 54,870,292 (GRCm39) |
D667G |
possibly damaging |
Het |
Ap3m2 |
G |
T |
8: 23,283,128 (GRCm39) |
A208D |
possibly damaging |
Het |
Arhgap17 |
A |
T |
7: 122,903,013 (GRCm39) |
|
probably benign |
Het |
Bptf |
A |
G |
11: 106,959,208 (GRCm39) |
V1838A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,043,563 (GRCm39) |
M334L |
probably benign |
Het |
Btbd10 |
C |
T |
7: 112,934,516 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
A |
1: 109,980,696 (GRCm39) |
T208K |
probably damaging |
Het |
Cnga4 |
A |
G |
7: 105,055,025 (GRCm39) |
Y100C |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,878,017 (GRCm39) |
V2644M |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,856,515 (GRCm39) |
D2882G |
probably damaging |
Het |
Eapp |
T |
A |
12: 54,732,747 (GRCm39) |
K117M |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,916,427 (GRCm39) |
V673A |
probably benign |
Het |
Ephb4 |
G |
A |
5: 137,368,117 (GRCm39) |
C754Y |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,480,956 (GRCm39) |
D33G |
possibly damaging |
Het |
Farsa |
A |
G |
8: 85,594,212 (GRCm39) |
K321E |
probably damaging |
Het |
Fry |
G |
A |
5: 150,360,624 (GRCm39) |
R2090Q |
probably damaging |
Het |
Gm10283 |
A |
G |
8: 60,954,258 (GRCm39) |
|
probably benign |
Het |
Grm4 |
A |
G |
17: 27,650,464 (GRCm39) |
I844T |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,726,691 (GRCm39) |
D124G |
probably benign |
Het |
Gulo |
A |
T |
14: 66,227,890 (GRCm39) |
D347E |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,485,552 (GRCm39) |
F4350S |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,239,712 (GRCm39) |
D473G |
probably damaging |
Het |
Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,720,440 (GRCm39) |
E1026G |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,993,186 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
A |
T |
13: 47,212,286 (GRCm39) |
D190V |
possibly damaging |
Het |
Lima1 |
A |
T |
15: 99,700,040 (GRCm39) |
N146K |
probably damaging |
Het |
Mnt |
G |
T |
11: 74,733,122 (GRCm39) |
V85L |
probably benign |
Het |
Mon2 |
T |
A |
10: 122,861,970 (GRCm39) |
|
probably benign |
Het |
Mtf1 |
T |
C |
4: 124,713,994 (GRCm39) |
|
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,896,737 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
C |
5: 113,013,616 (GRCm39) |
L780R |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,283,942 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,964,522 (GRCm39) |
S705P |
probably damaging |
Het |
Ocrl |
A |
T |
X: 47,024,963 (GRCm39) |
|
probably benign |
Het |
Or1e34 |
A |
T |
11: 73,778,730 (GRCm39) |
M156K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,545 (GRCm39) |
F141S |
probably benign |
Het |
Or51k1 |
A |
T |
7: 103,661,395 (GRCm39) |
C171* |
probably null |
Het |
Or52ab4 |
A |
G |
7: 102,987,393 (GRCm39) |
N44S |
probably damaging |
Het |
Otof |
T |
A |
5: 30,528,049 (GRCm39) |
K1931N |
probably damaging |
Het |
Plcxd3 |
A |
G |
15: 4,546,349 (GRCm39) |
S118G |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,974,268 (GRCm39) |
Q58L |
probably benign |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,622,897 (GRCm39) |
E38G |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,999,396 (GRCm39) |
Y1164N |
probably damaging |
Het |
Scn9a |
T |
G |
2: 66,357,143 (GRCm39) |
K1053Q |
probably damaging |
Het |
Sgsm1 |
G |
T |
5: 113,392,894 (GRCm39) |
Q1087K |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 40,017,914 (GRCm39) |
D40G |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,689,885 (GRCm39) |
D117G |
probably damaging |
Het |
Slc2a9 |
T |
A |
5: 38,637,487 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
A |
G |
11: 102,248,741 (GRCm39) |
|
probably benign |
Het |
Smarca1 |
T |
A |
X: 46,912,303 (GRCm39) |
Q982L |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,608,831 (GRCm39) |
I320N |
possibly damaging |
Het |
Stx8 |
A |
T |
11: 68,000,188 (GRCm39) |
R209S |
probably null |
Het |
Sulf2 |
T |
C |
2: 165,925,799 (GRCm39) |
T453A |
possibly damaging |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tenm2 |
T |
A |
11: 35,915,607 (GRCm39) |
I1976F |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,730,745 (GRCm39) |
S1341L |
probably damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,147,506 (GRCm39) |
K30E |
probably damaging |
Het |
Tmem225 |
A |
G |
9: 40,061,043 (GRCm39) |
I117V |
possibly damaging |
Het |
Tmt1a3 |
A |
T |
15: 100,233,264 (GRCm39) |
N152Y |
possibly damaging |
Het |
Top2a |
A |
G |
11: 98,892,243 (GRCm39) |
I1073T |
probably damaging |
Het |
Trps1 |
A |
C |
15: 50,695,256 (GRCm39) |
Y296* |
probably null |
Het |
Tubg1 |
T |
C |
11: 101,016,162 (GRCm39) |
M377T |
probably benign |
Het |
Tut7 |
A |
G |
13: 59,957,301 (GRCm39) |
V7A |
probably damaging |
Het |
Vmn1r35 |
G |
A |
6: 66,656,497 (GRCm39) |
H58Y |
probably benign |
Het |
Vmn1r56 |
G |
A |
7: 5,199,429 (GRCm39) |
H63Y |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,615,189 (GRCm39) |
|
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,603 (GRCm39) |
S303P |
possibly damaging |
Het |
Wdr49 |
C |
T |
3: 75,338,383 (GRCm39) |
|
probably null |
Het |
Wdr49 |
T |
C |
3: 75,357,197 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
C |
11: 72,804,004 (GRCm39) |
L2582P |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTGTTCCAACCCCTTTGGAAGAC -3'
(R):5'- GGTTGTAGACATGGCCTACCACATC -3'
Sequencing Primer
(F):5'- TGCACTCGACTGTACGAC -3'
(R):5'- GTGCTATAAAGCAGATTGTTGCCC -3'
|
Posted On |
2013-07-11 |