Incidental Mutation 'R7190:Rere'
| ID |
559533 |
| 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 |
045273-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7190 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150695410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 462
(I462V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105680
AA Change: I194V
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: I194V
| 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: I462V
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: I462V
| 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: ENSMUST00000219467
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,330 (GRCm39) |
R27* |
probably null |
Het |
| Armc3 |
T |
A |
2: 19,297,947 (GRCm39) |
Y573N |
probably damaging |
Het |
| Bod1l |
A |
C |
5: 41,977,281 (GRCm39) |
N1344K |
probably benign |
Het |
| Camta1 |
T |
G |
4: 151,232,980 (GRCm39) |
N231T |
possibly damaging |
Het |
| Capza2 |
T |
A |
6: 17,654,120 (GRCm39) |
Y57* |
probably null |
Het |
| Ccdc168 |
A |
C |
1: 44,100,775 (GRCm39) |
S108A |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,780,432 (GRCm39) |
I871F |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,359,574 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
T |
11: 69,439,923 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
C |
18: 25,223,812 (GRCm39) |
F1053L |
probably damaging |
Het |
| Foxj1 |
A |
G |
11: 116,223,201 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Gatad2b |
T |
A |
3: 90,257,722 (GRCm39) |
I210N |
probably benign |
Het |
| Gba1 |
T |
A |
3: 89,111,669 (GRCm39) |
I112N |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,339,208 (GRCm39) |
V420A |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,357,721 (GRCm39) |
H1072Q |
probably damaging |
Het |
| Gpr150 |
C |
T |
13: 76,203,992 (GRCm39) |
A318T |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,956 (GRCm39) |
N209D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,946 (GRCm39) |
N1200S |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,818 (GRCm39) |
H307Y |
unknown |
Het |
| Il20ra |
A |
T |
10: 19,618,689 (GRCm39) |
I46F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,033,570 (GRCm39) |
D927G |
probably benign |
Het |
| Nlrc4 |
G |
T |
17: 74,752,198 (GRCm39) |
D728E |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,598,040 (GRCm39) |
D630G |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,315,990 (GRCm39) |
I273N |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,298,626 (GRCm39) |
I27T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,729,743 (GRCm39) |
A2867D |
unknown |
Het |
| Perm1 |
A |
G |
4: 156,304,272 (GRCm39) |
T754A |
possibly damaging |
Het |
| Plpbp |
G |
T |
8: 27,541,325 (GRCm39) |
V162L |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,370,694 (GRCm39) |
E220D |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,726 (GRCm39) |
M199K |
probably benign |
Het |
| Pramel38 |
T |
G |
5: 94,366,096 (GRCm39) |
N71K |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,754,666 (GRCm39) |
E204G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,252,945 (GRCm39) |
D667E |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,862,735 (GRCm39) |
E76G |
possibly damaging |
Het |
| Strc |
T |
G |
2: 121,199,507 (GRCm39) |
I1311L |
probably benign |
Het |
| Svil |
A |
G |
18: 5,092,937 (GRCm39) |
M1385V |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,113,361 (GRCm39) |
D1083E |
probably benign |
Het |
| Szt2 |
T |
A |
4: 118,246,203 (GRCm39) |
H986L |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,113,493 (GRCm39) |
|
probably null |
Het |
| Thy1 |
T |
A |
9: 43,958,222 (GRCm39) |
S117T |
possibly damaging |
Het |
| Tmem183a |
A |
T |
1: 134,282,496 (GRCm39) |
I203N |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,644,491 (GRCm39) |
I118V |
probably benign |
Het |
| Tsen34 |
T |
C |
7: 3,697,806 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,717,143 (GRCm39) |
Q7506R |
unknown |
Het |
| Vmn1r184 |
T |
C |
7: 25,967,105 (GRCm39) |
S284P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,398,205 (GRCm39) |
D810G |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,993,444 (GRCm39) |
D554G |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,517,768 (GRCm39) |
T250S |
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 |
|
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'- TCACTCTGGAACACTGCTG -3'
(R):5'- CTCCCACAATTGTCAGTTGTCAG -3'
Sequencing Primer
(F):5'- AACACTGCTGCCCCCTG -3'
(R):5'- TTGTCAGTTGTCAGCACTAATATAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation