Incidental Mutation 'R2070:Rere'
| ID |
227031 |
| 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 |
040075-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2070 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 150699047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000105680
AA Change: S442R
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: S442R
| 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: S710R
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: S710R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219467
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Ablim2 |
G |
A |
5: 35,955,857 (GRCm39) |
C24Y |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,861,988 (GRCm39) |
F497S |
probably damaging |
Het |
| Armh3 |
G |
T |
19: 45,879,724 (GRCm39) |
P543Q |
probably damaging |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,988,878 (GRCm39) |
|
probably null |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,688,851 (GRCm39) |
I207V |
probably benign |
Het |
| Bnip3l |
A |
G |
14: 67,226,671 (GRCm39) |
M174T |
probably damaging |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,644,727 (GRCm39) |
V160A |
possibly damaging |
Het |
| Ccdc27 |
T |
A |
4: 154,126,270 (GRCm39) |
N73I |
unknown |
Het |
| Cdc42bpg |
T |
A |
19: 6,370,518 (GRCm39) |
C1204S |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,186,377 (GRCm39) |
V824D |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
A |
G |
11: 101,073,805 (GRCm39) |
Y652C |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,554,978 (GRCm39) |
I2033M |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,860 (GRCm39) |
L289P |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,081 (GRCm39) |
D529G |
probably damaging |
Het |
| Defb28 |
T |
A |
2: 152,362,064 (GRCm39) |
S75T |
probably benign |
Het |
| Dennd2a |
A |
T |
6: 39,442,053 (GRCm39) |
V939D |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,703 (GRCm39) |
R1866G |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,221,353 (GRCm39) |
|
probably null |
Het |
| Ecscr |
T |
G |
18: 35,848,490 (GRCm39) |
N184T |
probably damaging |
Het |
| Eif4ebp1 |
G |
T |
8: 27,763,372 (GRCm39) |
R55L |
probably damaging |
Het |
| Eml1 |
G |
T |
12: 108,479,258 (GRCm39) |
V344L |
probably damaging |
Het |
| Exoc2 |
G |
T |
13: 30,999,353 (GRCm39) |
N901K |
probably benign |
Het |
| Fam161b |
T |
A |
12: 84,403,202 (GRCm39) |
I143F |
probably benign |
Het |
| Fam180a |
A |
G |
6: 35,302,846 (GRCm39) |
S2P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,666 (GRCm39) |
I1779F |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,064,804 (GRCm39) |
K4920R |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,806,699 (GRCm39) |
V1006E |
probably damaging |
Het |
| Glcci1 |
A |
G |
6: 8,558,566 (GRCm39) |
S30G |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,495 (GRCm39) |
S43R |
possibly damaging |
Het |
| Hao1 |
T |
C |
2: 134,372,535 (GRCm39) |
T158A |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,059,885 (GRCm39) |
H154R |
possibly damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,304,431 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ipmk |
A |
T |
10: 71,208,579 (GRCm39) |
K122* |
probably null |
Het |
| Jakmip2 |
T |
C |
18: 43,696,395 (GRCm39) |
E518G |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,706,993 (GRCm39) |
T1519A |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,350 (GRCm39) |
I224T |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map4k5 |
C |
T |
12: 69,863,111 (GRCm39) |
V629I |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,326 (GRCm39) |
D1037G |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mptx2 |
A |
T |
1: 173,102,145 (GRCm39) |
Y181* |
probably null |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Myo5a |
A |
G |
9: 75,089,266 (GRCm39) |
E1132G |
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,345,891 (GRCm39) |
F814L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Oit3 |
T |
G |
10: 59,266,835 (GRCm39) |
I224L |
probably benign |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pacs2 |
C |
T |
12: 113,024,731 (GRCm39) |
T407I |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,940 (GRCm39) |
I351T |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,472,838 (GRCm39) |
|
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Phip |
T |
A |
9: 82,757,352 (GRCm39) |
I1607L |
probably benign |
Het |
| Plekhd1 |
C |
A |
12: 80,739,681 (GRCm39) |
S10* |
probably null |
Het |
| Pramel24 |
T |
G |
4: 143,453,472 (GRCm39) |
Y193* |
probably null |
Het |
| Prdm1 |
C |
T |
10: 44,317,408 (GRCm39) |
D505N |
possibly damaging |
Het |
| Psmd13 |
T |
C |
7: 140,477,561 (GRCm39) |
V320A |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,015,927 (GRCm39) |
S456P |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,351,210 (GRCm39) |
Q446R |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,054,323 (GRCm39) |
E210G |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,079,803 (GRCm39) |
T1891A |
probably benign |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,298,573 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
A |
9: 31,002,669 (GRCm39) |
I745F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,419,012 (GRCm39) |
L4P |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Uty |
T |
C |
Y: 1,169,193 (GRCm39) |
E414G |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,321,356 (GRCm39) |
D586G |
unknown |
Het |
| Zfp106 |
T |
C |
2: 120,354,010 (GRCm39) |
H1490R |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,837,109 (GRCm39) |
V731A |
probably benign |
Het |
| Zyg11b |
G |
C |
4: 108,108,016 (GRCm39) |
N463K |
possibly 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 |
|
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 |
|
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'- TGTCACACACTAGCCATGCG -3'
(R):5'- GCAACTGTAGACTGAGTCTGGTTAG -3'
Sequencing Primer
(F):5'- ATGCGTGCAGAGCTCTAC -3'
(R):5'- TGAGGTTGCAGGGGAGCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation