Incidental Mutation 'R1975:Rere'
| ID |
221543 |
| 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 |
039988-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1975 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150700190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1091
(D1091E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105680
AA Change: D823E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: D823E
| 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 |
probably damaging
Transcript: ENSMUST00000105682
AA Change: D1091E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: D1091E
| 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 |
unknown
Transcript: ENSMUST00000219467
AA Change: D106E
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
96% (71/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,742,322 (GRCm39) |
T429A |
probably benign |
Het |
| Afmid |
A |
C |
11: 117,727,300 (GRCm39) |
I275L |
probably benign |
Het |
| Aimp1 |
A |
C |
3: 132,382,860 (GRCm39) |
D5E |
possibly damaging |
Het |
| Aldob |
G |
A |
4: 49,538,171 (GRCm39) |
A319V |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,697,600 (GRCm39) |
V1068I |
possibly damaging |
Het |
| Ccr2 |
C |
T |
9: 123,906,830 (GRCm39) |
S370L |
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,102 (GRCm39) |
Y391H |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,761,281 (GRCm39) |
M873T |
possibly damaging |
Het |
| Cspg4 |
G |
C |
9: 56,797,762 (GRCm39) |
G1409R |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,987,362 (GRCm39) |
L1320* |
probably null |
Het |
| Dock4 |
T |
C |
12: 40,829,641 (GRCm39) |
|
probably benign |
Het |
| Eml4 |
T |
C |
17: 83,717,622 (GRCm39) |
S65P |
probably benign |
Het |
| Fblim1 |
A |
T |
4: 141,312,175 (GRCm39) |
D183E |
probably damaging |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,601,930 (GRCm39) |
T515S |
possibly damaging |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,301,518 (GRCm39) |
I225V |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,728,334 (GRCm39) |
T133A |
possibly damaging |
Het |
| Krt78 |
T |
C |
15: 101,854,603 (GRCm39) |
*1069W |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,586,920 (GRCm39) |
M761K |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,383,005 (GRCm39) |
T1320A |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,581,875 (GRCm39) |
I115L |
probably damaging |
Het |
| Mcph1 |
T |
G |
8: 18,739,081 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
A |
10: 24,786,664 (GRCm39) |
N923K |
probably benign |
Het |
| Msrb2 |
T |
G |
2: 19,398,032 (GRCm39) |
Y97D |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,700,673 (GRCm39) |
|
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,325,980 (GRCm39) |
V1141E |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,958,555 (GRCm39) |
E3675G |
probably damaging |
Het |
| Or11h7 |
T |
A |
14: 50,890,821 (GRCm39) |
N42K |
probably damaging |
Het |
| Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,446 (GRCm38) |
V212E |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,201 (GRCm39) |
F80Y |
probably damaging |
Het |
| Or52z14 |
A |
G |
7: 103,253,219 (GRCm39) |
|
probably null |
Het |
| Or5ac21 |
T |
C |
16: 59,124,091 (GRCm39) |
S193P |
probably damaging |
Het |
| Or8k21 |
C |
G |
2: 86,145,498 (GRCm39) |
G44A |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,393,109 (GRCm39) |
V1815F |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
| Psma8 |
T |
G |
18: 14,864,033 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
T |
C |
8: 91,812,090 (GRCm39) |
S220P |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,197,002 (GRCm39) |
C540R |
probably damaging |
Het |
| Sema3d |
T |
A |
5: 12,613,285 (GRCm39) |
V454E |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,634,965 (GRCm39) |
V677A |
probably benign |
Het |
| Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,444,141 (GRCm39) |
I370V |
probably benign |
Het |
| Slc22a19 |
A |
G |
19: 7,661,224 (GRCm39) |
|
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,820,338 (GRCm39) |
D287V |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,956,653 (GRCm39) |
Y488* |
probably null |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Strn |
T |
C |
17: 78,999,928 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,838 (GRCm39) |
N192S |
possibly damaging |
Het |
| Tns3 |
T |
A |
11: 8,385,738 (GRCm39) |
I1386F |
probably benign |
Het |
| Treml4 |
T |
A |
17: 48,579,821 (GRCm39) |
V219E |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,850,908 (GRCm39) |
V354A |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tub |
G |
A |
7: 108,627,042 (GRCm39) |
G314R |
possibly damaging |
Het |
| Ube3b |
C |
T |
5: 114,537,926 (GRCm39) |
T339M |
possibly damaging |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,550 (GRCm39) |
I221T |
possibly damaging |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,429 (GRCm39) |
T359I |
probably benign |
Het |
| Zfp322a |
A |
T |
13: 23,541,074 (GRCm39) |
C223S |
probably damaging |
Het |
| Zfp512b |
G |
A |
2: 181,228,878 (GRCm39) |
R696* |
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 |
|
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 |
|
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'- AACTCATGCCTCAGAGCCAG -3'
(R):5'- TCCAGGTGTTTGTAGAACCTAG -3'
Sequencing Primer
(F):5'- AGCACCCTTTCGTACCTGGAG -3'
(R):5'- CCTAGAGAGGTAGCAGGTCTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation