Incidental Mutation 'R7173:Rere'
| ID |
558409 |
| 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 |
045265-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7173 (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 150553195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 129
(R129H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105682]
[ENSMUST00000131600]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105682
AA Change: R189H
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: R189H
| 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: ENSMUST00000131600
AA Change: R129H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115385
Gene: ENSMUSG00000039852
AA Change: R129H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:BAH
|
85 |
178 |
2.1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.8652 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
| Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,621,837 (GRCm39) |
N794I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
| Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
| Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
| Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
| Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
| Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
| Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
| Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
| Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
| Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,504,595 (GRCm39) |
M83K |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
| Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
| Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
| Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
| Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
| Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,349,633 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
| Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
| Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
| Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
| Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
| Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
| Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,570,592 (GRCm39) |
S1187Y |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
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 |
|
|
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 |
|
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'- CTCTGAGATGAGCAGTTGCAGG -3'
(R):5'- GCGATGCTCTTTATTGCAAGTTC -3'
Sequencing Primer
(F):5'- TTGCAGCAGGGTTCCGATC -3'
(R):5'- CTCTTTATTGCAAGTTCTTTTGAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation