Incidental Mutation 'R8070:Rere'
| ID |
620214 |
| 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 |
067505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150701832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 37
(D37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105680
AA Change: D1136G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: D1136G
| 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 |
probably damaging
Transcript: ENSMUST00000105682
AA Change: D1404G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: D1404G
| 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 |
probably damaging
Transcript: ENSMUST00000136646
AA Change: D37G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852
AA Change: D37G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atrophin-1
|
1 |
199 |
2.2e-122 |
PFAM |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,510 (GRCm39) |
E82G |
probably benign |
Het |
| 9830107B12Rik |
A |
G |
17: 48,452,681 (GRCm39) |
F86S |
probably damaging |
Het |
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Acta1 |
T |
A |
8: 124,620,360 (GRCm39) |
D26V |
possibly damaging |
Het |
| Adra1d |
A |
C |
2: 131,403,502 (GRCm39) |
L196R |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,909 (GRCm39) |
C132Y |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,170,226 (GRCm39) |
V92A |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,844 (GRCm39) |
I149K |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,674,041 (GRCm39) |
M312V |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,978,643 (GRCm39) |
V381E |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,369,720 (GRCm39) |
V207I |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,870,030 (GRCm39) |
Q629R |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,867,606 (GRCm39) |
V479L |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,101,506 (GRCm39) |
S1407P |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,681,523 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cwh43 |
T |
A |
5: 73,578,806 (GRCm39) |
M357K |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,386,180 (GRCm39) |
D351E |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,576 (GRCm39) |
I517V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,915,497 (GRCm39) |
E4374G |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,275,922 (GRCm39) |
S336P |
possibly damaging |
Het |
| Enoph1 |
A |
T |
5: 100,208,841 (GRCm39) |
E65D |
probably benign |
Het |
| Fam83f |
T |
A |
15: 80,556,281 (GRCm39) |
L55Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,401,472 (GRCm39) |
F379L |
|
Het |
| Fscb |
A |
T |
12: 64,521,382 (GRCm39) |
M28K |
probably benign |
Het |
| Gas7 |
G |
A |
11: 67,574,260 (GRCm39) |
V412M |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,727,057 (GRCm39) |
V638E |
probably benign |
Het |
| Ggt1 |
A |
T |
10: 75,414,733 (GRCm39) |
I184F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,629 (GRCm39) |
N1103S |
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,935,887 (GRCm39) |
A130T |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,394,230 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
A |
1: 150,525,743 (GRCm39) |
E3327* |
probably null |
Het |
| Ighv1-36 |
C |
T |
12: 114,843,656 (GRCm39) |
G68E |
probably damaging |
Het |
| Igkv6-32 |
G |
A |
6: 70,051,089 (GRCm39) |
T89M |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,652,014 (GRCm39) |
D931G |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,330,631 (GRCm39) |
E437G |
probably benign |
Het |
| Lingo3 |
C |
T |
10: 80,671,955 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
A |
G |
17: 17,758,900 (GRCm39) |
S815P |
probably damaging |
Het |
| Ly6a |
T |
C |
15: 74,869,449 (GRCm39) |
D2G |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,078 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
C |
3: 30,033,987 (GRCm39) |
E239G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,852,838 (GRCm39) |
V889A |
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,938,986 (GRCm39) |
N1675I |
probably benign |
Het |
| Ndrg4 |
T |
C |
8: 96,426,756 (GRCm39) |
F50L |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,508,293 (GRCm39) |
Y286C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,604 (GRCm39) |
D195G |
probably damaging |
Het |
| Or2y14 |
A |
T |
11: 49,404,941 (GRCm39) |
T159S |
probably damaging |
Het |
| Or4p21 |
G |
T |
2: 88,277,003 (GRCm39) |
T93K |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,809,741 (GRCm39) |
L407P |
possibly damaging |
Het |
| Pgm2 |
A |
G |
5: 64,269,425 (GRCm39) |
N504S |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,283 (GRCm39) |
M656V |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,209 (GRCm39) |
T189A |
unknown |
Het |
| Ppp1r12b |
T |
C |
1: 134,803,807 (GRCm39) |
S451G |
probably benign |
Het |
| Prox1 |
T |
G |
1: 189,893,107 (GRCm39) |
N446T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,195,199 (GRCm39) |
R1195S |
probably damaging |
Het |
| Tfip11 |
T |
A |
5: 112,482,796 (GRCm39) |
M560K |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,320 (GRCm39) |
V260A |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,434,476 (GRCm39) |
M41T |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,249 (GRCm39) |
S68P |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,661 (GRCm39) |
N826S |
probably damaging |
Het |
| Tuba3a |
T |
C |
6: 125,255,433 (GRCm39) |
E414G |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,695 (GRCm39) |
I502V |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,336 (GRCm39) |
Y245F |
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 |
|
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 |
|
|
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'- ACCCCATGGAGCATTTTGCC -3'
(R):5'- CAGGACTAGGCTTCTCTAGAGG -3'
Sequencing Primer
(F):5'- AGCATTTTGCCCGGCACAG -3'
(R):5'- AGCCCAGGTGTAGAGCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation