Incidental Mutation 'R9523:Rere'
ID |
719003 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9523 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 150703636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 180
(H180Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
AlphaFold |
Q80TZ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105680
AA Change: H1271Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101305 Gene: ENSMUSG00000039852 AA Change: H1271Q
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: H1539Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101307 Gene: ENSMUSG00000039852 AA Change: H1539Q
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: ENSMUST00000136646
AA Change: H180Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121544 Gene: ENSMUSG00000039852 AA Change: H180Q
Domain | Start | End | E-Value | Type |
Pfam:Atrophin-1
|
1 |
199 |
2.2e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219467
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,687,057 (GRCm39) |
T15A |
possibly damaging |
Het |
2010315B03Rik |
G |
T |
9: 124,056,652 (GRCm39) |
Q91K |
|
Het |
2210408I21Rik |
A |
G |
13: 77,407,988 (GRCm39) |
N419S |
possibly damaging |
Het |
Abhd2 |
A |
G |
7: 78,998,020 (GRCm39) |
E184G |
probably damaging |
Het |
Adgrg3 |
T |
C |
8: 95,766,186 (GRCm39) |
I339T |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,567,178 (GRCm39) |
A5332T |
|
Het |
Akap13 |
T |
C |
7: 75,293,193 (GRCm39) |
V42A |
|
Het |
Akap6 |
A |
G |
12: 52,842,672 (GRCm39) |
T7A |
probably benign |
Het |
Apob |
A |
T |
12: 8,052,069 (GRCm39) |
D1170V |
probably damaging |
Het |
Atad1 |
A |
G |
19: 32,684,323 (GRCm39) |
I25T |
possibly damaging |
Het |
Atp4b |
G |
T |
8: 13,436,746 (GRCm39) |
N255K |
probably damaging |
Het |
Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
Bpnt1 |
T |
A |
1: 185,077,584 (GRCm39) |
C100S |
probably damaging |
Het |
C1rl |
C |
T |
6: 124,484,054 (GRCm39) |
L203F |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,705,372 (GRCm39) |
V576D |
probably damaging |
Het |
Col8a2 |
A |
G |
4: 126,205,273 (GRCm39) |
T428A |
unknown |
Het |
Copg2 |
T |
A |
6: 30,749,505 (GRCm39) |
|
probably null |
Het |
Cpn2 |
C |
T |
16: 30,078,759 (GRCm39) |
R314H |
possibly damaging |
Het |
Cpt2 |
G |
A |
4: 107,764,354 (GRCm39) |
A470V |
probably damaging |
Het |
Cyp2a4 |
C |
T |
7: 26,011,688 (GRCm39) |
T303I |
probably damaging |
Het |
Ddx42 |
A |
G |
11: 106,132,606 (GRCm39) |
D543G |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
Fam219b |
T |
C |
9: 57,444,919 (GRCm39) |
F6L |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,807,972 (GRCm39) |
L1430F |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,075,466 (GRCm39) |
I573V |
probably benign |
Het |
Ggnbp2 |
A |
T |
11: 84,745,188 (GRCm39) |
S182R |
probably benign |
Het |
Glud1 |
A |
G |
14: 34,061,931 (GRCm39) |
T484A |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,257,608 (GRCm39) |
N682S |
probably benign |
Het |
Gnao1 |
T |
C |
8: 94,622,861 (GRCm39) |
I55T |
|
Het |
H2bc15 |
G |
T |
13: 21,938,305 (GRCm39) |
A5S |
unknown |
Het |
Hcn4 |
C |
T |
9: 58,766,809 (GRCm39) |
S790L |
unknown |
Het |
Ighv3-4 |
T |
C |
12: 114,217,393 (GRCm39) |
E66G |
probably damaging |
Het |
Igkv6-23 |
A |
G |
6: 70,237,526 (GRCm39) |
S72P |
probably damaging |
Het |
Kdm7a |
A |
C |
6: 39,147,767 (GRCm39) |
Y213D |
probably damaging |
Het |
Klk15 |
T |
G |
7: 43,587,770 (GRCm39) |
M66R |
possibly damaging |
Het |
Lce1d |
T |
A |
3: 92,593,363 (GRCm39) |
T17S |
unknown |
Het |
Lipt1 |
T |
C |
1: 37,914,534 (GRCm39) |
Y197H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,660,978 (GRCm39) |
D157E |
|
Het |
Ltbp1 |
A |
G |
17: 75,697,498 (GRCm39) |
T1697A |
probably benign |
Het |
Marchf6 |
T |
C |
15: 31,498,845 (GRCm39) |
T151A |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
Myo5b |
A |
G |
18: 74,861,968 (GRCm39) |
N1320S |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,877,611 (GRCm39) |
S421T |
unknown |
Het |
Nav1 |
A |
T |
1: 135,379,929 (GRCm39) |
M1531K |
unknown |
Het |
Nlrp4e |
A |
G |
7: 23,054,636 (GRCm39) |
D930G |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or51a6 |
A |
G |
7: 102,604,464 (GRCm39) |
S115P |
probably damaging |
Het |
Or5b112 |
G |
T |
19: 13,319,848 (GRCm39) |
C242F |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,479,712 (GRCm39) |
M2L |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,945 (GRCm39) |
Y21* |
probably null |
Het |
Or6k14 |
A |
T |
1: 173,927,608 (GRCm39) |
I195F |
probably damaging |
Het |
Or7g30 |
G |
A |
9: 19,352,580 (GRCm39) |
V124I |
possibly damaging |
Het |
Oxct2b |
A |
T |
4: 123,011,483 (GRCm39) |
I468F |
probably damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,636 (GRCm39) |
L602Q |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,525,298 (GRCm39) |
V1862A |
unknown |
Het |
Rad54l2 |
C |
T |
9: 106,573,151 (GRCm39) |
R1110H |
probably damaging |
Het |
Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
Sfxn4 |
T |
C |
19: 60,845,807 (GRCm39) |
D63G |
probably damaging |
Het |
Strn |
C |
T |
17: 78,967,575 (GRCm39) |
A579T |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,747,756 (GRCm39) |
L10P |
probably damaging |
Het |
Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
Tln2 |
T |
C |
9: 67,165,766 (GRCm39) |
Y1027C |
probably damaging |
Het |
Tmem65 |
A |
G |
15: 58,662,002 (GRCm39) |
|
probably null |
Het |
Tox4 |
C |
T |
14: 52,529,166 (GRCm39) |
P376S |
probably benign |
Het |
Tsg101 |
C |
T |
7: 46,542,308 (GRCm39) |
G215D |
possibly damaging |
Het |
Utp18 |
A |
G |
11: 93,768,833 (GRCm39) |
S226P |
probably damaging |
Het |
Vipr2 |
T |
C |
12: 116,093,788 (GRCm39) |
S174P |
probably damaging |
Het |
Vmn2r24 |
G |
T |
6: 123,763,950 (GRCm39) |
V276F |
possibly damaging |
Het |
Wdr26 |
T |
C |
1: 181,013,620 (GRCm39) |
R418G |
probably benign |
Het |
Zfp235 |
T |
C |
7: 23,840,381 (GRCm39) |
Y267H |
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 |
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 |
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'- ATGGCTGCTCCCTTGACTTG -3'
(R):5'- AAGACTGGCCAATCTGTCTG -3'
Sequencing Primer
(F):5'- TAGCAGAGCCTGTTTTGCGC -3'
(R):5'- GGCCAATCTGTCTGCTTCTAGG -3'
|
Posted On |
2022-07-18 |