Incidental Mutation 'R5377:Rpgrip1'
| ID |
425643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpgrip1
|
| Ensembl Gene |
ENSMUSG00000057132 |
| Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
| Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
| MMRRC Submission |
042845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R5377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52397652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1325
(M1325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046709]
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
| AlphaFold |
Q9EPQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046709
|
| SMART Domains |
Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726
| Domain | Start | End | E-Value | Type |
|---|
|
FACT-Spt16_Nlob
|
5 |
168 |
2.95e-87 |
SMART |
|
Pfam:Peptidase_M24
|
181 |
411 |
2.9e-35 |
PFAM |
|
low complexity region
|
435 |
449 |
N/A |
INTRINSIC |
|
coiled coil region
|
462 |
493 |
N/A |
INTRINSIC |
|
SPT16
|
529 |
689 |
3.38e-96 |
SMART |
|
Rtt106
|
806 |
896 |
1.61e-38 |
SMART |
|
low complexity region
|
926 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
988 |
N/A |
INTRINSIC |
|
coiled coil region
|
994 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111600
AA Change: M1121L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: M1121L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
542 |
N/A |
INTRINSIC |
|
C2
|
602 |
707 |
1.08e-2 |
SMART |
|
coiled coil region
|
746 |
795 |
N/A |
INTRINSIC |
|
Blast:C2
|
958 |
1086 |
1e-37 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111603
AA Change: M1325L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: M1325L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
543 |
N/A |
INTRINSIC |
|
Pfam:C2-C2_1
|
582 |
721 |
1.9e-49 |
PFAM |
|
C2
|
764 |
869 |
7.3e-5 |
SMART |
|
coiled coil region
|
910 |
999 |
N/A |
INTRINSIC |
|
Blast:C2
|
1162 |
1290 |
2e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180646
|
| SMART Domains |
Protein: ENSMUSP00000137751
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180901
|
| SMART Domains |
Protein: ENSMUSP00000137826
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
179 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
363 |
N/A |
INTRINSIC |
|
Blast:C2
|
526 |
654 |
2e-38 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181017
AA Change: M289L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
AA Change: M289L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000181736
AA Change: M75L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181401
AA Change: M1314L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: M1314L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF3250
|
605 |
710 |
2.8e-46 |
PFAM |
|
C2
|
753 |
858 |
1.08e-2 |
SMART |
|
coiled coil region
|
899 |
988 |
N/A |
INTRINSIC |
|
Blast:C2
|
1151 |
1279 |
1e-37 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227577
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
T |
6: 121,622,212 (GRCm39) |
V372F |
probably benign |
Het |
| Adcy10 |
G |
A |
1: 165,347,464 (GRCm39) |
C393Y |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,550,669 (GRCm39) |
I681S |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,485 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,497,092 (GRCm39) |
V156E |
probably damaging |
Het |
| Alk |
T |
G |
17: 72,202,734 (GRCm39) |
D1167A |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,453 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,385,221 (GRCm39) |
N288K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,398,133 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
G |
A |
12: 3,524,618 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,413 (GRCm39) |
H802R |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,007,691 (GRCm39) |
T531A |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,733,530 (GRCm39) |
N506D |
possibly damaging |
Het |
| Crebrf |
T |
C |
17: 26,978,839 (GRCm39) |
V509A |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,590 (GRCm39) |
I413F |
probably null |
Het |
| Defb12 |
C |
A |
8: 19,164,342 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,312,674 (GRCm39) |
E4297G |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,948,857 (GRCm39) |
N371Y |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,565,783 (GRCm39) |
Q416* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,536,222 (GRCm39) |
L284P |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,739 (GRCm39) |
I595F |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 54,972,371 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,084 (GRCm39) |
K783E |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,277 (GRCm39) |
S1052P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 58,002,252 (GRCm39) |
I192V |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,586,803 (GRCm39) |
D722G |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,672,216 (GRCm39) |
V1080A |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,613,656 (GRCm39) |
G504S |
probably damaging |
Het |
| Lrit2 |
A |
C |
14: 36,791,140 (GRCm39) |
Q273P |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,054,569 (GRCm39) |
E189D |
probably benign |
Het |
| Mttp |
C |
T |
3: 137,810,790 (GRCm39) |
R608H |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,238,908 (GRCm39) |
V2011A |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,848,317 (GRCm39) |
I1075F |
probably benign |
Het |
| Npat |
A |
G |
9: 53,461,336 (GRCm39) |
|
probably null |
Het |
| Nucks1 |
T |
C |
1: 131,846,771 (GRCm39) |
F16L |
probably damaging |
Het |
| Nus1 |
T |
C |
10: 52,305,309 (GRCm39) |
S150P |
possibly damaging |
Het |
| Odad1 |
C |
T |
7: 45,591,506 (GRCm39) |
R257* |
probably null |
Het |
| Oga |
A |
T |
19: 45,746,461 (GRCm39) |
Y779* |
probably null |
Het |
| Or4c123 |
G |
T |
2: 89,127,506 (GRCm39) |
T36K |
probably damaging |
Het |
| Or8b35 |
A |
T |
9: 37,903,908 (GRCm39) |
Y40F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,731,367 (GRCm39) |
T3290A |
unknown |
Het |
| Pign |
A |
T |
1: 105,585,537 (GRCm39) |
F4Y |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,696,406 (GRCm39) |
N233D |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf11 |
T |
A |
15: 96,315,001 (GRCm39) |
H1227L |
possibly damaging |
Het |
| Sec31b |
G |
T |
19: 44,507,076 (GRCm39) |
P840T |
probably damaging |
Het |
| Slc16a9 |
T |
A |
10: 70,118,958 (GRCm39) |
L426I |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 23,996,575 (GRCm39) |
S27P |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,299 (GRCm39) |
S310P |
possibly damaging |
Het |
| Tmem245 |
G |
A |
4: 56,947,084 (GRCm39) |
R110C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,735,152 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,684,775 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,644,320 (GRCm39) |
V4561I |
probably benign |
Het |
| Vmn1r192 |
C |
T |
13: 22,371,801 (GRCm39) |
V140I |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,531 (GRCm39) |
V405A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,509,678 (GRCm39) |
V172G |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,677,817 (GRCm39) |
R2956C |
possibly damaging |
Het |
| Zfp446 |
T |
C |
7: 12,716,178 (GRCm39) |
L283P |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,591 (GRCm39) |
K164E |
probably damaging |
Het |
|
| Other mutations in Rpgrip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Rpgrip1
|
APN |
14 |
52,387,895 (GRCm39) |
splice site |
probably null |
|
|
IGL01016:Rpgrip1
|
APN |
14 |
52,383,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Rpgrip1
|
APN |
14 |
52,368,633 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01382:Rpgrip1
|
APN |
14 |
52,382,934 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01433:Rpgrip1
|
APN |
14 |
52,363,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01528:Rpgrip1
|
APN |
14 |
52,349,634 (GRCm39) |
nonsense |
probably null |
|
|
IGL01548:Rpgrip1
|
APN |
14 |
52,363,728 (GRCm39) |
splice site |
probably benign |
|
|
IGL01652:Rpgrip1
|
APN |
14 |
52,382,949 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02040:Rpgrip1
|
APN |
14 |
52,358,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02113:Rpgrip1
|
APN |
14 |
52,371,301 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02121:Rpgrip1
|
APN |
14 |
52,384,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02185:Rpgrip1
|
APN |
14 |
52,349,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02234:Rpgrip1
|
APN |
14 |
52,368,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL02322:Rpgrip1
|
APN |
14 |
52,387,499 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02379:Rpgrip1
|
APN |
14 |
52,376,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02524:Rpgrip1
|
APN |
14 |
52,358,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02836:Rpgrip1
|
APN |
14 |
52,382,714 (GRCm39) |
splice site |
probably null |
|
|
IGL03264:Rpgrip1
|
APN |
14 |
52,378,109 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03410:Rpgrip1
|
APN |
14 |
52,395,823 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,387,001 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,386,851 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0089:Rpgrip1
|
UTSW |
14 |
52,386,841 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0498:Rpgrip1
|
UTSW |
14 |
52,368,771 (GRCm39) |
splice site |
probably benign |
|
|
R0602:Rpgrip1
|
UTSW |
14 |
52,371,313 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0776:Rpgrip1
|
UTSW |
14 |
52,378,626 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1139:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1528:Rpgrip1
|
UTSW |
14 |
52,349,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1715:Rpgrip1
|
UTSW |
14 |
52,378,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1934:Rpgrip1
|
UTSW |
14 |
52,352,101 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2087:Rpgrip1
|
UTSW |
14 |
52,374,079 (GRCm39) |
splice site |
probably null |
|
|
R2114:Rpgrip1
|
UTSW |
14 |
52,387,024 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3406:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3835:Rpgrip1
|
UTSW |
14 |
52,384,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Rpgrip1
|
UTSW |
14 |
52,386,808 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4124:Rpgrip1
|
UTSW |
14 |
52,389,781 (GRCm39) |
splice site |
probably null |
|
|
R4381:Rpgrip1
|
UTSW |
14 |
52,387,906 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4407:Rpgrip1
|
UTSW |
14 |
52,384,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Rpgrip1
|
UTSW |
14 |
52,389,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4904:Rpgrip1
|
UTSW |
14 |
52,397,586 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4904:Rpgrip1
|
UTSW |
14 |
52,358,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5284:Rpgrip1
|
UTSW |
14 |
52,386,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5499:Rpgrip1
|
UTSW |
14 |
52,378,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5729:Rpgrip1
|
UTSW |
14 |
52,397,617 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5834:Rpgrip1
|
UTSW |
14 |
52,395,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6157:Rpgrip1
|
UTSW |
14 |
52,349,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6455:Rpgrip1
|
UTSW |
14 |
52,378,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6796:Rpgrip1
|
UTSW |
14 |
52,387,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Rpgrip1
|
UTSW |
14 |
52,378,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7173:Rpgrip1
|
UTSW |
14 |
52,349,633 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7302:Rpgrip1
|
UTSW |
14 |
52,387,012 (GRCm39) |
missense |
unknown |
|
|
R7315:Rpgrip1
|
UTSW |
14 |
52,358,458 (GRCm39) |
missense |
not run |
|
|
R7320:Rpgrip1
|
UTSW |
14 |
52,368,673 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7344:Rpgrip1
|
UTSW |
14 |
52,378,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7459:Rpgrip1
|
UTSW |
14 |
52,378,016 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7797:Rpgrip1
|
UTSW |
14 |
52,371,277 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7852:Rpgrip1
|
UTSW |
14 |
52,383,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7916:Rpgrip1
|
UTSW |
14 |
52,368,641 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7990:Rpgrip1
|
UTSW |
14 |
52,366,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8041:Rpgrip1
|
UTSW |
14 |
52,356,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8344:Rpgrip1
|
UTSW |
14 |
52,387,819 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8403:Rpgrip1
|
UTSW |
14 |
52,389,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8559:Rpgrip1
|
UTSW |
14 |
52,386,714 (GRCm39) |
missense |
unknown |
|
|
R8679:Rpgrip1
|
UTSW |
14 |
52,396,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Rpgrip1
|
UTSW |
14 |
52,378,056 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8890:Rpgrip1
|
UTSW |
14 |
52,382,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9197:Rpgrip1
|
UTSW |
14 |
52,382,857 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
RF028:Rpgrip1
|
UTSW |
14 |
52,386,855 (GRCm39) |
nonsense |
probably null |
|
|
RF034:Rpgrip1
|
UTSW |
14 |
52,386,983 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF035:Rpgrip1
|
UTSW |
14 |
52,386,850 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF036:Rpgrip1
|
UTSW |
14 |
52,386,998 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Rpgrip1
|
UTSW |
14 |
52,386,994 (GRCm39) |
frame shift |
probably null |
|
|
RF043:Rpgrip1
|
UTSW |
14 |
52,386,852 (GRCm39) |
utr 3 prime |
probably benign |
|
|
X0024:Rpgrip1
|
UTSW |
14 |
52,378,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0026:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCAGGATCTCTGAGGTTG -3'
(R):5'- CAGTTTCTGAAGTCAAGTCAAGTTC -3'
Sequencing Primer
(F):5'- ATCTCTGAGGTTGAGGGGCC -3'
(R):5'- CACTGATGGTTGTAAGCCACGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation