Incidental Mutation 'R0344:Rere'
| ID |
26422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rere
|
| Ensembl Gene |
ENSMUSG00000039852 |
| Gene Name |
arginine glutamic acid dipeptide (RE) repeats |
| Synonyms |
eye, eyes3, Atr2, atrophin-2, 1110033A15Rik |
| MMRRC Submission |
038551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 150695438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105680
AA Change: V203A
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: V203A
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
18 |
70 |
1.67e-13 |
SMART |
|
SANT
|
124 |
173 |
1.8e-6 |
SMART |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
ZnF_GATA
|
233 |
284 |
1.94e-15 |
SMART |
|
Pfam:Atrophin-1
|
300 |
1290 |
N/A |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105682
AA Change: V471A
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: V471A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
BAH
|
103 |
283 |
3.52e-13 |
SMART |
|
ELM2
|
286 |
338 |
1.67e-13 |
SMART |
|
SANT
|
392 |
441 |
1.8e-6 |
SMART |
|
low complexity region
|
444 |
461 |
N/A |
INTRINSIC |
|
ZnF_GATA
|
501 |
552 |
1.94e-15 |
SMART |
|
Pfam:Atrophin-1
|
568 |
1557 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219467
|
| Meta Mutation Damage Score |
0.1105 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.3%
- 20x: 93.6%
|
| Validation Efficiency |
99% (81/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553J12Rik |
T |
A |
16: 88,617,189 (GRCm39) |
C29* |
probably null |
Het |
| Abca4 |
G |
A |
3: 121,877,613 (GRCm39) |
C324Y |
probably damaging |
Het |
| Ablim2 |
T |
G |
5: 35,994,277 (GRCm39) |
|
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,870 (GRCm39) |
V115E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,571,231 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,013 (GRCm39) |
S936T |
probably benign |
Het |
| Agap3 |
T |
C |
5: 24,656,200 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
T |
A |
13: 74,362,705 (GRCm39) |
S393C |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,713,998 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
C |
A |
6: 118,484,598 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,668 (GRCm39) |
V886I |
probably benign |
Het |
| Atp5f1a |
C |
A |
18: 77,867,895 (GRCm39) |
N356K |
probably damaging |
Het |
| AU021092 |
A |
T |
16: 5,040,031 (GRCm39) |
M31K |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,124,978 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C3ar1 |
T |
C |
6: 122,827,731 (GRCm39) |
D162G |
probably benign |
Het |
| Camkk2 |
C |
T |
5: 122,901,940 (GRCm39) |
C123Y |
probably benign |
Het |
| Casp8ap2 |
A |
T |
4: 32,644,079 (GRCm39) |
I1051F |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,965 (GRCm39) |
V544E |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,417,817 (GRCm39) |
|
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Dennd6b |
T |
C |
15: 89,080,432 (GRCm39) |
Q56R |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,787,663 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,692,062 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,925,350 (GRCm39) |
V164A |
probably damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,572 (GRCm39) |
G165S |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,219,328 (GRCm39) |
K352E |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,845,613 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,513 (GRCm39) |
F45L |
probably damaging |
Het |
| Ipo4 |
T |
C |
14: 55,863,399 (GRCm39) |
Q1073R |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,008,973 (GRCm39) |
K485E |
probably benign |
Het |
| Jak2 |
G |
A |
19: 29,261,029 (GRCm39) |
V342I |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,859,666 (GRCm39) |
Q297K |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,077,573 (GRCm39) |
E103G |
probably benign |
Het |
| Mthfr |
C |
G |
4: 148,139,885 (GRCm39) |
S618W |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,644,185 (GRCm39) |
V727A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,881,152 (GRCm39) |
E313A |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,646 (GRCm39) |
C208Y |
probably damaging |
Het |
| Or52b2 |
C |
A |
7: 104,986,814 (GRCm39) |
M36I |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,726 (GRCm39) |
C188* |
probably null |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,992,806 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,566 (GRCm39) |
T201A |
probably benign |
Het |
| Phldb1 |
C |
A |
9: 44,612,964 (GRCm39) |
V919L |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,460,407 (GRCm39) |
H4205Q |
probably benign |
Het |
| Plekhg3 |
G |
T |
12: 76,613,040 (GRCm39) |
E449* |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,537,338 (GRCm39) |
I331N |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,033,929 (GRCm39) |
V301A |
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,081,636 (GRCm39) |
R22H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,541,443 (GRCm39) |
V361A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,714 (GRCm39) |
V1309E |
possibly damaging |
Het |
| Sbk3 |
T |
A |
7: 4,970,404 (GRCm39) |
T322S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,335,354 (GRCm39) |
I1203L |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,233,442 (GRCm39) |
|
probably benign |
Het |
| Sik3 |
C |
A |
9: 46,120,109 (GRCm39) |
Q683K |
probably damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,927,621 (GRCm39) |
I307V |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,647 (GRCm39) |
D306G |
probably damaging |
Het |
| Snx13 |
G |
A |
12: 35,136,899 (GRCm39) |
W120* |
probably null |
Het |
| Snx5 |
A |
G |
2: 144,099,128 (GRCm39) |
|
probably benign |
Het |
| Srsf5 |
T |
C |
12: 80,994,298 (GRCm39) |
S76P |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,629,186 (GRCm39) |
D31G |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,956,709 (GRCm39) |
M333T |
probably benign |
Het |
| Taf6 |
T |
G |
5: 138,179,409 (GRCm39) |
I377L |
probably benign |
Het |
| Taf8 |
G |
T |
17: 47,804,505 (GRCm39) |
N252K |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,423 (GRCm39) |
T113A |
probably benign |
Het |
| Tmtc4 |
C |
T |
14: 123,215,572 (GRCm39) |
V25M |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,886 (GRCm39) |
D841E |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,185,932 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,542,833 (GRCm39) |
D33384E |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,067 (GRCm39) |
E928G |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,090 (GRCm39) |
F81L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,042 (GRCm39) |
I738T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,806 (GRCm39) |
E87K |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,964,822 (GRCm39) |
M351L |
probably benign |
Het |
|
| Other mutations in Rere |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Rere
|
APN |
4 |
150,703,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01465:Rere
|
APN |
4 |
150,594,451 (GRCm39) |
missense |
unknown |
|
|
IGL01523:Rere
|
APN |
4 |
150,700,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01688:Rere
|
APN |
4 |
150,702,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Rere
|
APN |
4 |
150,699,289 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02621:Rere
|
APN |
4 |
150,698,269 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02672:Rere
|
APN |
4 |
150,594,483 (GRCm39) |
missense |
unknown |
|
|
R0116:Rere
|
UTSW |
4 |
150,701,433 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0119:Rere
|
UTSW |
4 |
150,699,779 (GRCm39) |
unclassified |
probably benign |
|
|
R0504:Rere
|
UTSW |
4 |
150,699,779 (GRCm39) |
unclassified |
probably benign |
|
|
R0630:Rere
|
UTSW |
4 |
150,703,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:Rere
|
UTSW |
4 |
150,699,829 (GRCm39) |
unclassified |
probably benign |
|
|
R1164:Rere
|
UTSW |
4 |
150,619,341 (GRCm39) |
missense |
unknown |
|
|
R1424:Rere
|
UTSW |
4 |
150,701,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Rere
|
UTSW |
4 |
150,700,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Rere
|
UTSW |
4 |
150,696,522 (GRCm39) |
unclassified |
probably benign |
|
|
R1953:Rere
|
UTSW |
4 |
150,701,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Rere
|
UTSW |
4 |
150,553,247 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1966:Rere
|
UTSW |
4 |
150,701,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Rere
|
UTSW |
4 |
150,700,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2070:Rere
|
UTSW |
4 |
150,699,047 (GRCm39) |
unclassified |
probably benign |
|
|
R2115:Rere
|
UTSW |
4 |
150,697,018 (GRCm39) |
unclassified |
probably benign |
|
|
R2144:Rere
|
UTSW |
4 |
150,701,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2270:Rere
|
UTSW |
4 |
150,561,837 (GRCm39) |
missense |
unknown |
|
|
R2969:Rere
|
UTSW |
4 |
150,654,673 (GRCm39) |
missense |
unknown |
|
|
R3699:Rere
|
UTSW |
4 |
150,561,819 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3723:Rere
|
UTSW |
4 |
150,553,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Rere
|
UTSW |
4 |
150,554,785 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4234:Rere
|
UTSW |
4 |
150,701,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Rere
|
UTSW |
4 |
150,561,909 (GRCm39) |
missense |
unknown |
|
|
R4798:Rere
|
UTSW |
4 |
150,699,624 (GRCm39) |
unclassified |
probably benign |
|
|
R4883:Rere
|
UTSW |
4 |
150,700,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4914:Rere
|
UTSW |
4 |
150,703,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Rere
|
UTSW |
4 |
150,703,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Rere
|
UTSW |
4 |
150,703,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Rere
|
UTSW |
4 |
150,703,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Rere
|
UTSW |
4 |
150,698,273 (GRCm39) |
unclassified |
probably benign |
|
|
R5172:Rere
|
UTSW |
4 |
150,654,726 (GRCm39) |
missense |
unknown |
|
|
R5643:Rere
|
UTSW |
4 |
150,701,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Rere
|
UTSW |
4 |
150,553,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Rere
|
UTSW |
4 |
150,491,061 (GRCm39) |
missense |
probably benign |
|
|
R7173:Rere
|
UTSW |
4 |
150,553,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Rere
|
UTSW |
4 |
150,695,410 (GRCm39) |
missense |
unknown |
|
|
R7699:Rere
|
UTSW |
4 |
150,701,555 (GRCm39) |
missense |
|
|
|
R7990:Rere
|
UTSW |
4 |
150,699,327 (GRCm39) |
missense |
unknown |
|
|
R8070:Rere
|
UTSW |
4 |
150,701,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Rere
|
UTSW |
4 |
150,701,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Rere
|
UTSW |
4 |
150,701,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8215:Rere
|
UTSW |
4 |
150,701,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8254:Rere
|
UTSW |
4 |
150,697,129 (GRCm39) |
missense |
unknown |
|
|
R8348:Rere
|
UTSW |
4 |
150,703,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Rere
|
UTSW |
4 |
150,703,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Rere
|
UTSW |
4 |
150,701,792 (GRCm39) |
nonsense |
probably null |
|
|
R8790:Rere
|
UTSW |
4 |
150,593,332 (GRCm39) |
missense |
unknown |
|
|
R8921:Rere
|
UTSW |
4 |
150,696,471 (GRCm39) |
missense |
unknown |
|
|
R8937:Rere
|
UTSW |
4 |
150,699,331 (GRCm39) |
unclassified |
probably benign |
|
|
R9345:Rere
|
UTSW |
4 |
150,554,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9377:Rere
|
UTSW |
4 |
150,593,342 (GRCm39) |
missense |
unknown |
|
|
R9490:Rere
|
UTSW |
4 |
150,516,040 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9523:Rere
|
UTSW |
4 |
150,703,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9653:Rere
|
UTSW |
4 |
150,516,010 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9657:Rere
|
UTSW |
4 |
150,699,390 (GRCm39) |
missense |
unknown |
|
|
Z1176:Rere
|
UTSW |
4 |
150,553,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rere
|
UTSW |
4 |
150,700,268 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTCTGGAACACTGCTGCC -3'
(R):5'- ACTGTCACTCCAGGACTAGGAAGC -3'
Sequencing Primer
(F):5'- TCAGCAGCAGGCACAGG -3'
(R):5'- atggctccagcggttaag -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation