Incidental Mutation 'R8103:Rere'
| ID |
630565 |
| 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 |
067534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 150701796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 25
(R25H)
|
| 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: R1124H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: R1124H
| 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: R1392H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: R1392H
| 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: R25H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852
AA Change: R25H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atrophin-1
|
1 |
199 |
2.2e-122 |
PFAM |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.2972 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.4%
|
| Validation Efficiency |
100% (83/83) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,668 (GRCm39) |
D216G |
probably benign |
Het |
| Abcg5 |
A |
T |
17: 84,965,956 (GRCm39) |
I640K |
possibly damaging |
Het |
| Acadvl |
T |
C |
11: 69,905,168 (GRCm39) |
K128R |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,581,018 (GRCm39) |
N259I |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,586,997 (GRCm39) |
K104R |
possibly damaging |
Het |
| Antxr1 |
T |
C |
6: 87,165,198 (GRCm39) |
N413S |
probably damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,504,177 (GRCm39) |
T376A |
|
Het |
| Atf6b |
T |
G |
17: 34,872,949 (GRCm39) |
S622A |
probably damaging |
Het |
| Atp5pd |
T |
A |
11: 115,306,851 (GRCm39) |
Y115F |
possibly damaging |
Het |
| Axin2 |
T |
C |
11: 108,822,369 (GRCm39) |
L307P |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,644,564 (GRCm39) |
T153M |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,231 (GRCm39) |
V604A |
probably benign |
Het |
| Ccser2 |
T |
C |
14: 36,618,240 (GRCm39) |
Y765C |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,110,006 (GRCm39) |
D433G |
probably damaging |
Het |
| Cep85l |
T |
G |
10: 53,175,420 (GRCm39) |
|
probably null |
Het |
| Ciao3 |
A |
G |
17: 25,996,395 (GRCm39) |
T135A |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,461,014 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,804,452 (GRCm39) |
D2261G |
unknown |
Het |
| Comp |
C |
A |
8: 70,833,936 (GRCm39) |
N650K |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,834,202 (GRCm39) |
M476T |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,897,009 (GRCm39) |
S743T |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,451,105 (GRCm39) |
|
probably null |
Het |
| Dgkb |
A |
G |
12: 38,186,580 (GRCm39) |
H243R |
probably damaging |
Het |
| Dsg1c |
T |
G |
18: 20,416,171 (GRCm39) |
Y691D |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,117,535 (GRCm39) |
S933N |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,641,133 (GRCm39) |
S19P |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,829,524 (GRCm39) |
E548K |
probably damaging |
Het |
| Eif4a3l2 |
C |
T |
6: 116,528,468 (GRCm39) |
T115I |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,839 (GRCm39) |
V174A |
possibly damaging |
Het |
| Fyco1 |
A |
T |
9: 123,658,453 (GRCm39) |
N574K |
probably benign |
Het |
| Glb1l2 |
T |
A |
9: 26,676,980 (GRCm39) |
M551L |
probably benign |
Het |
| Gm7694 |
G |
T |
1: 170,130,284 (GRCm39) |
P38Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,814,440 (GRCm39) |
T324A |
probably benign |
Het |
| Htr3b |
A |
G |
9: 48,857,849 (GRCm39) |
V131A |
possibly damaging |
Het |
| Igfbp1 |
T |
C |
11: 7,148,106 (GRCm39) |
C50R |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,692,611 (GRCm39) |
I378T |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,972,687 (GRCm39) |
L504P |
possibly damaging |
Het |
| Iqca1 |
A |
T |
1: 89,987,330 (GRCm39) |
I74N |
|
Het |
| Kbtbd12 |
C |
T |
6: 88,595,663 (GRCm39) |
A56T |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,620 (GRCm39) |
N369S |
possibly damaging |
Het |
| Kmt5b |
A |
G |
19: 3,865,381 (GRCm39) |
D815G |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,352,599 (GRCm39) |
Q361R |
probably benign |
Het |
| Mep1b |
T |
C |
18: 21,222,442 (GRCm39) |
I277T |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,851 (GRCm39) |
T385I |
probably benign |
Het |
| Npepl1 |
A |
T |
2: 173,953,002 (GRCm39) |
I95F |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,020 (GRCm39) |
F36L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,045,013 (GRCm39) |
C243F |
probably damaging |
Het |
| Or10al7 |
A |
T |
17: 38,365,903 (GRCm39) |
C185S |
probably damaging |
Het |
| Or1e33 |
C |
T |
11: 73,738,735 (GRCm39) |
C72Y |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,234,821 (GRCm39) |
V226A |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,415,212 (GRCm39) |
I638F |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,119 (GRCm39) |
T722A |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,706,944 (GRCm39) |
H531L |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,166,544 (GRCm39) |
T272A |
probably benign |
Het |
| Pparg |
T |
C |
6: 115,450,102 (GRCm39) |
V367A |
possibly damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,356 (GRCm39) |
M99K |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,499,179 (GRCm39) |
T536A |
probably benign |
Het |
| Rbfox2 |
G |
T |
15: 76,983,654 (GRCm39) |
P284T |
probably damaging |
Het |
| Rbmyf9 |
C |
T |
Y: 3,776,675 (GRCm39) |
T104I |
possibly damaging |
Het |
| Rhpn1 |
T |
A |
15: 75,581,115 (GRCm39) |
L119Q |
probably null |
Het |
| Rlig1 |
C |
A |
10: 100,413,110 (GRCm39) |
V178F |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,125,677 (GRCm39) |
T1328A |
probably benign |
Het |
| Septin11 |
A |
T |
5: 93,309,007 (GRCm39) |
|
probably null |
Het |
| Skida1 |
T |
A |
2: 18,052,549 (GRCm39) |
Q201L |
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,910,055 (GRCm39) |
I1805N |
probably damaging |
Het |
| Stard13 |
T |
A |
5: 150,970,435 (GRCm39) |
Q853L |
possibly damaging |
Het |
| Susd1 |
T |
A |
4: 59,365,916 (GRCm39) |
|
probably null |
Het |
| Szt2 |
T |
A |
4: 118,245,061 (GRCm39) |
Q1158H |
possibly damaging |
Het |
| Tbcc |
A |
C |
17: 47,202,046 (GRCm39) |
D144A |
probably benign |
Het |
| Tsn |
A |
G |
1: 118,232,437 (GRCm39) |
I146T |
probably benign |
Het |
| Umad1 |
A |
T |
6: 8,427,121 (GRCm39) |
T99S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,777 (GRCm39) |
E3261V |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,851,439 (GRCm39) |
E1174* |
probably null |
Het |
| Vmn2r100 |
C |
A |
17: 19,751,415 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,919 (GRCm39) |
I255T |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,342,855 (GRCm39) |
S47P |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,006,612 (GRCm39) |
L313P |
possibly damaging |
Het |
| Ythdf2 |
C |
A |
4: 131,932,089 (GRCm39) |
R357L |
probably damaging |
Het |
| Zfp523 |
T |
C |
17: 28,420,267 (GRCm39) |
C262R |
probably damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,936 (GRCm39) |
V497A |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,662 (GRCm39) |
L528S |
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 |
|
|
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 |
|
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'- AGCCAGGCTTTGAGGTGAAG -3'
(R):5'- GATTCTTGGACAGAAGCTGCC -3'
Sequencing Primer
(F):5'- TTTGAGGTGAAGCCCCCAGAG -3'
(R):5'- TTGGACAGAAGCTGCCTCCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation