Incidental Mutation 'R8790:Rere'
| ID |
670857 |
| 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 |
068634-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150593332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 309
(T309A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105680
AA Change: T41A
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: T41A
| 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: T309A
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: T309A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,928,285 (GRCm39) |
P68S |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,831,620 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Abcb9 |
A |
G |
5: 124,215,304 (GRCm39) |
I479T |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,495,437 (GRCm39) |
I920F |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,881 (GRCm39) |
T465S |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,290,153 (GRCm39) |
I1760N |
possibly damaging |
Het |
| Aoah |
C |
T |
13: 21,035,840 (GRCm39) |
R140C |
probably benign |
Het |
| Bmp7 |
T |
A |
2: 172,712,060 (GRCm39) |
D388V |
probably benign |
Het |
| Bphl |
C |
T |
13: 34,244,468 (GRCm39) |
A195V |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,857,291 (GRCm39) |
V373A |
probably damaging |
Het |
| Cd79b |
T |
G |
11: 106,202,873 (GRCm39) |
D243A |
possibly damaging |
Het |
| Cdc25a |
T |
A |
9: 109,716,416 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,439,111 (GRCm39) |
Q805L |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,735,787 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,167 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
G |
A |
10: 121,503,568 (GRCm39) |
G248S |
possibly damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Dmkn |
G |
A |
7: 30,463,449 (GRCm39) |
S34N |
probably benign |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,068 (GRCm39) |
D331G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,018,232 (GRCm39) |
Y1429N |
possibly damaging |
Het |
| Dnajc5b |
T |
A |
3: 19,600,981 (GRCm39) |
L26Q |
probably damaging |
Het |
| Epb41l1 |
T |
G |
2: 156,345,722 (GRCm39) |
F242V |
possibly damaging |
Het |
| Esam |
A |
T |
9: 37,442,927 (GRCm39) |
I72F |
probably benign |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,841,024 (GRCm39) |
D1740G |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,684 (GRCm39) |
F42L |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,236 (GRCm39) |
P3038S |
probably damaging |
Het |
| Gm32742 |
C |
A |
9: 51,059,140 (GRCm39) |
G1035C |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,026 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,606,259 (GRCm39) |
I91K |
possibly damaging |
Het |
| Klhdc3 |
A |
G |
17: 46,991,626 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
C |
T |
19: 38,289,296 (GRCm39) |
S215F |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,374,946 (GRCm39) |
T4504I |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,619,224 (GRCm39) |
H183L |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,477,997 (GRCm39) |
V1773A |
probably damaging |
Het |
| Mesp1 |
G |
A |
7: 79,442,825 (GRCm39) |
R151* |
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,736 (GRCm39) |
D192G |
probably damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,991 (GRCm39) |
D678E |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,367,362 (GRCm39) |
T41P |
possibly damaging |
Het |
| Myo15a |
G |
T |
11: 60,378,047 (GRCm39) |
R185L |
|
Het |
| Myom2 |
T |
G |
8: 15,169,242 (GRCm39) |
L1136W |
probably damaging |
Het |
| Naa30 |
A |
G |
14: 49,418,208 (GRCm39) |
D316G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,405,319 (GRCm39) |
Q697R |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,793 (GRCm39) |
R1945G |
|
Het |
| Obox8 |
A |
T |
7: 14,066,908 (GRCm39) |
Y45* |
probably null |
Het |
| Ocln |
C |
T |
13: 100,642,727 (GRCm39) |
V452I |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,885,710 (GRCm39) |
D296V |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,906 (GRCm39) |
N57D |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,580 (GRCm39) |
I173M |
possibly damaging |
Het |
| Or8g4 |
T |
A |
9: 39,662,204 (GRCm39) |
I174K |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,278 (GRCm39) |
K298R |
possibly damaging |
Het |
| Papln |
T |
C |
12: 83,823,918 (GRCm39) |
V499A |
probably benign |
Het |
| Paxip1 |
G |
T |
5: 27,977,078 (GRCm39) |
P328Q |
unknown |
Het |
| Pcnx2 |
T |
C |
8: 126,604,306 (GRCm39) |
H650R |
probably benign |
Het |
| Pcnx3 |
A |
T |
19: 5,735,206 (GRCm39) |
V540E |
possibly damaging |
Het |
| Pnpla5 |
C |
T |
15: 84,002,819 (GRCm39) |
G255R |
probably damaging |
Het |
| Ppdpf |
G |
T |
2: 180,829,646 (GRCm39) |
E34* |
probably null |
Het |
| Pum3 |
T |
C |
19: 27,394,199 (GRCm39) |
Y357C |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,727,391 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,246,340 (GRCm39) |
M5K |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,776,297 (GRCm39) |
I2250N |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,075,341 (GRCm39) |
V130A |
probably benign |
Het |
| Slc26a9 |
T |
A |
1: 131,683,155 (GRCm39) |
S200T |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,023,519 (GRCm39) |
L299P |
possibly damaging |
Het |
| Smim10l1 |
G |
T |
6: 133,084,848 (GRCm39) |
V72L |
unknown |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,118,145 (GRCm39) |
Y859F |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,056,098 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,852,049 (GRCm39) |
D377V |
probably damaging |
Het |
| Tmed10 |
C |
A |
12: 85,390,254 (GRCm39) |
W203L |
probably damaging |
Het |
| Tmem51 |
T |
A |
4: 141,765,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tmprss11e |
A |
G |
5: 86,855,259 (GRCm39) |
V382A |
probably benign |
Het |
| Tnfrsf13b |
G |
T |
11: 61,038,350 (GRCm39) |
R211L |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,468,273 (GRCm39) |
V317A |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,631,363 (GRCm39) |
P1000S |
possibly damaging |
Het |
| Traj32 |
A |
T |
14: 54,423,587 (GRCm39) |
I10F |
|
Het |
| Trav8-1 |
T |
A |
14: 53,707,677 (GRCm39) |
C106S |
probably damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,655 (GRCm39) |
I24V |
probably benign |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
A |
17: 19,160,472 (GRCm39) |
C536S |
probably damaging |
Het |
| Zfp879 |
G |
T |
11: 50,723,429 (GRCm39) |
C542* |
probably null |
Het |
| Znfx1 |
C |
T |
2: 166,892,500 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TCAGTGGAGTCTTAGATTCACG -3'
(R):5'- GAAGGCTCACTAGTGCAGAG -3'
Sequencing Primer
(F):5'- CAGTGGAGTCTTAGATTCACGTTTAC -3'
(R):5'- CTGCTCAGAGAGAAAAGGCCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation