Incidental Mutation 'RF040:Rpgrip1'
| ID |
604780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpgrip1
|
| Ensembl Gene |
ENSMUSG00000057132 |
| Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
| Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
RF040 (G1)
|
| Quality Score |
153.249 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AGGAAGAGG to AG
at 52386994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
| AlphaFold |
Q9EPQ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111600
|
| SMART Domains |
Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
| 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 |
probably null
Transcript: ENSMUST00000111603
|
| SMART Domains |
Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
| 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: ENSMUST00000180513
|
| 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 |
probably null
Transcript: ENSMUST00000181017
|
| SMART Domains |
Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000181401
|
| SMART Domains |
Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
| 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 |
probably benign
Transcript: ENSMUST00000181627
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGCTGTG |
TGCTGTGACAGCTGTG |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
G |
GTGGCTGCTC |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
| Brme1 |
TG |
TGTCAGGGCAGCAGCAG |
8: 84,894,204 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
CTGAATTGGTTCCCAGACCCGTGT |
CT |
X: 7,485,210 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCTGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dnajc2 |
TAGTTG |
T |
5: 21,962,695 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
C |
CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA |
7: 44,149,945 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Heatr3 |
TAT |
TATTGAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AACA |
AACAACA |
X: 70,162,420 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
AGCAGCAGC |
AGCAGCAGCCGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Or52z15 |
ACTTGCTGATATCTT |
ACTT |
7: 103,332,145 (GRCm39) |
|
probably null |
Het |
| Osmr |
TTCT |
TTCTTCT |
15: 6,867,182 (GRCm39) |
|
probably benign |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
AC |
ACCACCGC |
4: 134,006,826 (GRCm39) |
|
probably benign |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGTCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
GC |
GCCCCACC |
19: 26,608,422 (GRCm39) |
|
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Sprr2b |
CAGTATGCTGTGAGCCTTGTCCTCCT |
C |
3: 92,224,871 (GRCm39) |
|
probably null |
Het |
| Sry |
GCTG |
GCTGGTGGTGGTGGTCATGGAACTG |
Y: 2,662,590 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CT |
CTATT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GC |
GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC |
18: 60,966,655 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCAACA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,035 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGTCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TTTGTTT |
TTTGTTTGGTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,141 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAA |
CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA |
15: 78,851,263 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCAACAGGAGCA |
8: 109,682,733 (GRCm39) |
|
probably benign |
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 |
|
R5377:Rpgrip1
|
UTSW |
14 |
52,397,652 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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 |
|
|
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'- GCTTCCAGATGTCAGAAGCTGAG -3'
(R):5'- CTGAGACTATCCTCTCCGATGG -3'
Sequencing Primer
(F):5'- TGTCAGAAGCTGAGAAGCC -3'
(R):5'- GGGCTTCATAGAATATTTAGAGGCCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation