Incidental Mutation 'R9377:Rere'
| ID |
709677 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9377 (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 C
at 150593342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 312
(Q312P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105680
AA Change: Q44P
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: Q44P
| 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: Q312P
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: Q312P
| 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 |
|
| 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 |
|---|
| 1700122O11Rik |
T |
C |
17: 48,348,273 (GRCm39) |
T55A |
probably benign |
Het |
| 3110070M22Rik |
T |
A |
13: 119,624,822 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,918,221 (GRCm39) |
N171K |
probably benign |
Het |
| Adam18 |
G |
A |
8: 25,104,859 (GRCm39) |
Q652* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
| Aff1 |
C |
T |
5: 103,981,685 (GRCm39) |
S608L |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,707,018 (GRCm39) |
F432L |
probably damaging |
Het |
| Ankfn1 |
G |
A |
11: 89,332,284 (GRCm39) |
L421F |
possibly damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,014,733 (GRCm39) |
V1334A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,608,858 (GRCm39) |
H1534Y |
possibly damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Atf3 |
T |
C |
1: 190,909,510 (GRCm39) |
H53R |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,990,800 (GRCm39) |
V1651F |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,993,361 (GRCm39) |
L797Q |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,180,131 (GRCm39) |
D32G |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,361,458 (GRCm39) |
M531K |
possibly damaging |
Het |
| Cep120 |
A |
G |
18: 53,851,592 (GRCm39) |
F567L |
possibly damaging |
Het |
| Cit |
T |
C |
5: 116,084,914 (GRCm39) |
I815T |
probably benign |
Het |
| Cnot6l |
G |
T |
5: 96,276,826 (GRCm39) |
Q121K |
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,483,725 (GRCm39) |
G882R |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,743,961 (GRCm39) |
F536L |
probably damaging |
Het |
| Copg2 |
T |
A |
6: 30,793,721 (GRCm39) |
H394L |
possibly damaging |
Het |
| Cst13 |
A |
G |
2: 148,670,165 (GRCm39) |
M112V |
possibly damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,124,786 (GRCm39) |
N37K |
probably benign |
Het |
| Cyp2u1 |
T |
A |
3: 131,091,449 (GRCm39) |
N357I |
possibly damaging |
Het |
| Dars1 |
T |
C |
1: 128,344,945 (GRCm39) |
T4A |
probably benign |
Het |
| Dclk1 |
G |
T |
3: 55,429,374 (GRCm39) |
C414F |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,694,832 (GRCm39) |
Y1009F |
unknown |
Het |
| Ebf4 |
T |
C |
2: 130,148,775 (GRCm39) |
Y117H |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,348,500 (GRCm39) |
Y196H |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,739,080 (GRCm39) |
R401H |
probably damaging |
Het |
| Epo |
T |
C |
5: 137,484,017 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
T |
A |
10: 127,173,359 (GRCm39) |
T100S |
possibly damaging |
Het |
| Gml2 |
T |
A |
15: 74,695,957 (GRCm39) |
F117Y |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,335,403 (GRCm39) |
V2314A |
probably benign |
Het |
| Hspb8 |
A |
G |
5: 116,547,487 (GRCm39) |
I165T |
probably damaging |
Het |
| Itgax |
A |
T |
7: 127,732,849 (GRCm39) |
T243S |
probably benign |
Het |
| Itih4 |
G |
T |
14: 30,608,533 (GRCm39) |
L16F |
probably damaging |
Het |
| Kmt5a |
C |
T |
5: 124,578,064 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,115,009 (GRCm39) |
E1089G |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,317,803 (GRCm39) |
N147K |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,981,246 (GRCm39) |
L407F |
probably benign |
Het |
| Mybpc2 |
A |
T |
7: 44,158,999 (GRCm39) |
V653D |
probably benign |
Het |
| Myo3b |
G |
A |
2: 70,069,242 (GRCm39) |
V522I |
possibly damaging |
Het |
| Nbr1 |
A |
G |
11: 101,456,590 (GRCm39) |
T156A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,039,291 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,116,546 (GRCm39) |
Y964F |
|
Het |
| Nr2f2 |
T |
A |
7: 70,007,856 (GRCm39) |
I209F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,957,740 (GRCm39) |
T357A |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,299 (GRCm39) |
V698E |
probably damaging |
Het |
| Pcdhga6 |
C |
T |
18: 37,841,570 (GRCm39) |
P430L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,162,156 (GRCm39) |
L2225S |
possibly damaging |
Het |
| Plekhf1 |
A |
T |
7: 37,921,203 (GRCm39) |
W122R |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,732,993 (GRCm39) |
S418P |
possibly damaging |
Het |
| Poldip3 |
T |
C |
15: 83,019,589 (GRCm39) |
N180S |
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,852,815 (GRCm39) |
R65* |
probably null |
Het |
| Ppp1r3d |
A |
T |
2: 178,055,669 (GRCm39) |
V111E |
probably damaging |
Het |
| Prrg4 |
T |
C |
2: 104,669,728 (GRCm39) |
I130V |
probably benign |
Het |
| Psma5 |
A |
T |
3: 108,172,448 (GRCm39) |
T55S |
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,627,252 (GRCm39) |
A440S |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,980,168 (GRCm39) |
K254E |
possibly damaging |
Het |
| Rest |
T |
C |
5: 77,416,128 (GRCm39) |
V114A |
possibly damaging |
Het |
| Rufy4 |
G |
T |
1: 74,171,879 (GRCm39) |
V201L |
probably benign |
Het |
| Scyl1 |
T |
C |
19: 5,809,023 (GRCm39) |
E727G |
probably benign |
Het |
| Serpinb6b |
T |
A |
13: 33,152,494 (GRCm39) |
M1K |
probably null |
Het |
| Sgsm1 |
C |
A |
5: 113,436,741 (GRCm39) |
V30F |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,644,921 (GRCm39) |
D344G |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,516,189 (GRCm39) |
T547A |
probably benign |
Het |
| Slc6a3 |
C |
A |
13: 73,692,966 (GRCm39) |
S195R |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,387,048 (GRCm39) |
D6G |
probably damaging |
Het |
| Spock3 |
A |
T |
8: 63,798,746 (GRCm39) |
M253L |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,298,974 (GRCm39) |
Y107C |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,294 (GRCm39) |
S581P |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,472 (GRCm39) |
T553A |
probably benign |
Het |
| Tet3 |
T |
A |
6: 83,380,596 (GRCm39) |
Q524L |
possibly damaging |
Het |
| Uckl1 |
A |
T |
2: 181,211,532 (GRCm39) |
V456E |
probably damaging |
Het |
| Ucp2 |
T |
C |
7: 100,146,040 (GRCm39) |
F4S |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,444,442 (GRCm39) |
I32V |
probably benign |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,601 (GRCm39) |
Y135N |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,390,587 (GRCm39) |
E82G |
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,593,925 (GRCm39) |
N137S |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,021,646 (GRCm39) |
C357* |
probably null |
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 |
|
|
R8937:Rere
|
UTSW |
4 |
150,699,331 (GRCm39) |
unclassified |
probably benign |
|
|
R9345:Rere
|
UTSW |
4 |
150,554,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CTTCAGTGGAGTCTTAGATTCACG -3'
(R):5'- AGGCTCACTAGTGCAGAGAG -3'
Sequencing Primer
(F):5'- CAGTGGAGTCTTAGATTCACGTTTAC -3'
(R):5'- GCACTGCTCAGAGAGAAAAGGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation