Incidental Mutation 'R1652:Rere'
| ID |
188769 |
| 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 |
039688-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1652 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 150696522 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: H241R
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: H241R
| 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: H509R
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: H509R
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
A |
14: 66,314,700 (GRCm39) |
E37V |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,071,697 (GRCm39) |
D664G |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,011 (GRCm39) |
V256A |
probably benign |
Het |
| Adrb1 |
C |
T |
19: 56,711,705 (GRCm39) |
S301L |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,210 (GRCm39) |
Y3686C |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,147 (GRCm39) |
S456P |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,082,470 (GRCm39) |
Y124C |
probably damaging |
Het |
| Bdkrb1 |
A |
T |
12: 105,570,502 (GRCm39) |
T23S |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,318,230 (GRCm39) |
Y1468H |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,699,947 (GRCm39) |
D152G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,908 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,230,630 (GRCm39) |
R969L |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,815 (GRCm39) |
D285V |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,217,679 (GRCm39) |
L14Q |
probably damaging |
Het |
| Dennd2d |
C |
A |
3: 106,394,317 (GRCm39) |
R63S |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,214,550 (GRCm39) |
L1105* |
probably null |
Het |
| Eef1e1 |
A |
T |
13: 38,840,081 (GRCm39) |
L75I |
possibly damaging |
Het |
| Eif1ad11 |
T |
A |
12: 87,993,853 (GRCm39) |
V27E |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,747,188 (GRCm39) |
S191G |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,215 (GRCm39) |
Y2420* |
probably null |
Het |
| Fbxw18 |
T |
A |
9: 109,519,695 (GRCm39) |
L270F |
probably benign |
Het |
| Fech |
T |
A |
18: 64,591,269 (GRCm39) |
H385L |
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,413,637 (GRCm39) |
I2N |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,378,042 (GRCm39) |
M339K |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,889,112 (GRCm39) |
M381K |
probably benign |
Het |
| Glyctk |
C |
A |
9: 106,034,356 (GRCm39) |
V173L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,424,567 (GRCm39) |
P393L |
probably damaging |
Het |
| Kat2a |
T |
C |
11: 100,599,437 (GRCm39) |
N517D |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,114,841 (GRCm39) |
R2330Q |
probably damaging |
Het |
| Lamc1 |
C |
T |
1: 153,125,392 (GRCm39) |
G597E |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,508 (GRCm39) |
S82C |
probably benign |
Het |
| Lgi3 |
T |
C |
14: 70,768,656 (GRCm39) |
F51S |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,447,245 (GRCm39) |
S2030P |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,877,201 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
C |
A |
3: 145,869,390 (GRCm39) |
R32S |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,168,151 (GRCm39) |
F324L |
probably damaging |
Het |
| Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
| Ncf4 |
T |
A |
15: 78,145,234 (GRCm39) |
M274K |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,215,901 (GRCm39) |
V1747G |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,591 (GRCm39) |
T192I |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,013 (GRCm39) |
D91G |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,728 (GRCm39) |
V247A |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,114,568 (GRCm39) |
G122D |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,664 (GRCm39) |
F1034L |
probably benign |
Het |
| Ppp2r1a |
G |
A |
17: 21,176,236 (GRCm39) |
V153I |
probably benign |
Het |
| Prss33 |
C |
G |
17: 24,054,115 (GRCm39) |
M30I |
probably benign |
Het |
| Prss33 |
A |
T |
17: 24,054,116 (GRCm39) |
M30K |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,960 (GRCm39) |
S793N |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,279 (GRCm39) |
V343M |
probably damaging |
Het |
| Rims1 |
G |
T |
1: 22,363,090 (GRCm39) |
P52Q |
probably damaging |
Het |
| Scpep1 |
G |
T |
11: 88,843,260 (GRCm39) |
S66* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,626,875 (GRCm39) |
H129Q |
probably damaging |
Het |
| Slc22a20 |
A |
T |
19: 6,022,970 (GRCm39) |
M391K |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,817,474 (GRCm39) |
I712K |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,502,510 (GRCm39) |
I629L |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,637 (GRCm39) |
V425G |
probably benign |
Het |
| Tnik |
G |
A |
3: 28,658,442 (GRCm39) |
V576I |
probably benign |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,178 (GRCm39) |
N15S |
probably damaging |
Het |
| Usf1 |
T |
C |
1: 171,245,317 (GRCm39) |
I243T |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,656 (GRCm39) |
I233F |
possibly damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,137,532 (GRCm39) |
F419L |
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 |
|
|
R0344:Rere
|
UTSW |
4 |
150,695,438 (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 |
|
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'- TACTTTCCGCACAGGTGCAAGCTC -3'
(R):5'- CCAAGCATCAAGTCAGTCAGTGCTC -3'
Sequencing Primer
(F):5'- TGACTGATGCTTACCTCAGTATG -3'
(R):5'- TCAGTCAGTGCTCACCACG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation