Incidental Mutation 'R8937:Rere'
| ID |
680713 |
| 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 |
068710-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 150699331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: T537N
| 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: T805N
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: T805N
| 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 benign
Transcript: ENSMUST00000136646
|
| SMART Domains |
Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atrophin-1
|
1 |
199 |
2.2e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219467
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (71/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
C |
A |
3: 116,762,120 (GRCm39) |
|
probably benign |
Het |
| Actn3 |
C |
T |
19: 4,921,798 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
A |
7: 75,184,601 (GRCm39) |
|
probably null |
Het |
| Akap9 |
A |
T |
5: 4,094,048 (GRCm39) |
Q2190L |
possibly damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,823,452 (GRCm39) |
V190D |
possibly damaging |
Het |
| Atrn |
T |
A |
2: 130,841,157 (GRCm39) |
D1186E |
probably benign |
Het |
| Bank1 |
A |
T |
3: 135,989,934 (GRCm39) |
V52E |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,857,883 (GRCm39) |
N342D |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
G |
8: 105,677,669 (GRCm39) |
T225A |
probably damaging |
Het |
| Clic6 |
G |
T |
16: 92,296,245 (GRCm39) |
D302Y |
probably damaging |
Het |
| Clmn |
T |
A |
12: 104,763,341 (GRCm39) |
N95I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,232,840 (GRCm39) |
F749L |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,956 (GRCm39) |
F358L |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,283,098 (GRCm39) |
D573G |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,584,471 (GRCm39) |
Y625H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,115,007 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,483,350 (GRCm39) |
L3146P |
probably damaging |
Het |
| Gal3st2b |
G |
A |
1: 93,868,570 (GRCm39) |
S265N |
probably benign |
Het |
| Glis3 |
G |
A |
19: 28,643,266 (GRCm39) |
A92V |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,204,427 (GRCm39) |
M1L |
probably benign |
Het |
| Kcnj15 |
G |
A |
16: 95,097,548 (GRCm39) |
|
probably benign |
Het |
| Krt27 |
A |
G |
11: 99,239,551 (GRCm39) |
S310P |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,862,816 (GRCm39) |
D2982E |
probably damaging |
Het |
| Lrfn3 |
A |
G |
7: 30,059,451 (GRCm39) |
V258A |
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,594,193 (GRCm39) |
M128K |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,797,512 (GRCm39) |
T417A |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,601,122 (GRCm39) |
T554A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,011,198 (GRCm39) |
S523G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,280,700 (GRCm39) |
A90V |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,895,110 (GRCm39) |
N53S |
probably benign |
Het |
| Muc15 |
T |
C |
2: 110,562,252 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
T |
11: 115,773,127 (GRCm39) |
M431L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,861,701 (GRCm39) |
D195G |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,874 (GRCm39) |
M253K |
probably benign |
Het |
| Or52h1 |
A |
G |
7: 103,828,949 (GRCm39) |
L222P |
possibly damaging |
Het |
| Pals1 |
T |
A |
12: 78,866,115 (GRCm39) |
D313E |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,125 (GRCm39) |
L102P |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,241 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,423,562 (GRCm39) |
Y409C |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,999 (GRCm39) |
Y124* |
probably null |
Het |
| Ralgapa1 |
T |
G |
12: 55,749,345 (GRCm39) |
I1233L |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,441 (GRCm39) |
D68E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,321,100 (GRCm39) |
H1185L |
possibly damaging |
Het |
| Robo2 |
G |
T |
16: 73,770,150 (GRCm39) |
P529T |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,770,149 (GRCm39) |
P529L |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,061,181 (GRCm39) |
T1165A |
possibly damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,768,390 (GRCm39) |
|
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,690,450 (GRCm39) |
L456P |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,740,885 (GRCm39) |
Y267H |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,902 (GRCm39) |
I927T |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,362,006 (GRCm39) |
D156G |
probably benign |
Het |
| Sox5 |
A |
T |
6: 143,853,169 (GRCm39) |
S370T |
probably benign |
Het |
| Spen |
T |
C |
4: 141,201,374 (GRCm39) |
T2418A |
probably damaging |
Het |
| St8sia6 |
A |
T |
2: 13,701,705 (GRCm39) |
L104H |
probably damaging |
Het |
| Stox1 |
T |
A |
10: 62,500,430 (GRCm39) |
N710I |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,344,900 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
G |
A |
3: 88,655,051 (GRCm39) |
P417S |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
| Tfcp2l1 |
G |
A |
1: 118,596,447 (GRCm39) |
G394E |
possibly damaging |
Het |
| Tial1 |
A |
G |
7: 128,056,715 (GRCm39) |
I13T |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,361,981 (GRCm39) |
D535G |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,396,626 (GRCm39) |
M464V |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,757,063 (GRCm39) |
N2108K |
probably damaging |
Het |
| Tspan3 |
T |
C |
9: 56,053,883 (GRCm39) |
D156G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,592,607 (GRCm39) |
V20842I |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,190,886 (GRCm39) |
W4078R |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,051,795 (GRCm39) |
V220M |
possibly damaging |
Het |
| Vmn2r19 |
G |
A |
6: 123,293,283 (GRCm39) |
|
probably null |
Het |
| Vmn2r3 |
A |
T |
3: 64,166,673 (GRCm39) |
F819L |
probably damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,031,470 (GRCm39) |
Y250C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,393,888 (GRCm39) |
H4521R |
unknown |
Het |
| Zfp219 |
A |
T |
14: 52,244,224 (GRCm39) |
C652S |
probably damaging |
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 |
|
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 |
|
|
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'- AGCACAGCAGCAGATGTTG -3'
(R):5'- TATGAGGATGAGCTGCTGCC -3'
Sequencing Primer
(F):5'- TTGCAAGCTCCCAGTGGTG -3'
(R):5'- AGAGGGCCCTGACCTTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation