Incidental Mutation 'R8215:Rere'
| ID |
636357 |
| 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 |
067657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150701424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1268
(M1268K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105680
AA Change: M1000K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: M1000K
| 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 |
possibly damaging
Transcript: ENSMUST00000105682
AA Change: M1268K
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: M1268K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,949,301 (GRCm39) |
R1066L |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,893,425 (GRCm39) |
I1292L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,538 (GRCm39) |
T229S |
probably benign |
Het |
| Adamtsl1 |
T |
G |
4: 86,261,382 (GRCm39) |
F1206V |
probably benign |
Het |
| Agl |
T |
C |
3: 116,582,293 (GRCm39) |
H243R |
probably damaging |
Het |
| Btn2a2 |
A |
C |
13: 23,666,040 (GRCm39) |
L264R |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,939,995 (GRCm39) |
S749T |
probably benign |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,949,902 (GRCm39) |
L1201P |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,308,941 (GRCm39) |
Q65* |
probably null |
Het |
| Clic5 |
T |
A |
17: 44,586,228 (GRCm39) |
L239* |
probably null |
Het |
| Corin |
T |
C |
5: 72,462,361 (GRCm39) |
D957G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,132,277 (GRCm39) |
Y486F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,081,151 (GRCm39) |
T374M |
probably benign |
Het |
| D930020B18Rik |
T |
A |
10: 121,503,429 (GRCm39) |
C201* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,326,193 (GRCm39) |
F3653L |
probably damaging |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Foxj3 |
T |
G |
4: 119,478,808 (GRCm39) |
S455R |
unknown |
Het |
| Gcnt3 |
T |
C |
9: 69,941,455 (GRCm39) |
D371G |
probably damaging |
Het |
| Gm10837 |
A |
G |
14: 122,728,193 (GRCm39) |
E23G |
unknown |
Het |
| Hivep3 |
T |
C |
4: 119,980,098 (GRCm39) |
V1712A |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,140,041 (GRCm39) |
V315A |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,086,241 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Itsn1 |
T |
C |
16: 91,608,996 (GRCm39) |
I248T |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,946,361 (GRCm39) |
K829R |
probably benign |
Het |
| Klhl17 |
A |
G |
4: 156,314,510 (GRCm39) |
V635A |
unknown |
Het |
| Krr1 |
C |
T |
10: 111,815,834 (GRCm39) |
R234* |
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,915,387 (GRCm39) |
D209E |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,874,293 (GRCm39) |
E71G |
probably damaging |
Het |
| Mroh5 |
C |
A |
15: 73,691,139 (GRCm39) |
K10N |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,492,319 (GRCm39) |
I64V |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,908,658 (GRCm39) |
S456P |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,610,896 (GRCm39) |
V532A |
probably benign |
Het |
| Or51k1 |
T |
C |
7: 103,661,330 (GRCm39) |
D193G |
possibly damaging |
Het |
| Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,796 (GRCm39) |
F251L |
probably damaging |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,907,521 (GRCm39) |
P868S |
|
Het |
| Ptf1a |
A |
G |
2: 19,450,760 (GRCm39) |
Q30R |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,141,179 (GRCm39) |
C542F |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,318 (GRCm39) |
F485L |
unknown |
Het |
| Samd14 |
A |
T |
11: 94,905,213 (GRCm39) |
E8D |
probably benign |
Het |
| Serpinh1 |
A |
G |
7: 98,995,545 (GRCm39) |
Y346H |
possibly damaging |
Het |
| Shq1 |
A |
T |
6: 100,648,021 (GRCm39) |
M1K |
probably null |
Het |
| Tfrc |
T |
C |
16: 32,443,848 (GRCm39) |
S551P |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,715,860 (GRCm39) |
N874T |
possibly damaging |
Het |
| Trak1 |
C |
A |
9: 121,298,096 (GRCm39) |
T667N |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,481,757 (GRCm39) |
T423P |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,756,077 (GRCm39) |
T50A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,346,853 (GRCm39) |
D3031E |
probably benign |
Het |
| Zbed6 |
G |
T |
1: 133,586,530 (GRCm39) |
A269E |
probably damaging |
Het |
| Zbtb4 |
A |
C |
11: 69,669,598 (GRCm39) |
I774L |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,344 (GRCm39) |
S604P |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
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 |
|
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'- ATGAAGGCCGTCTTAGTGACC -3'
(R):5'- AAAATGCTCCATGGGGTTGG -3'
Sequencing Primer
(F):5'- TTAGTGACCCTCAGCTCAGTGG -3'
(R):5'- TGCAGGGGGTCCAGCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation