Incidental Mutation 'R8725:Rere'
| ID |
673168 |
| 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 |
068574-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150366103-150706423 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 150701792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 24
(E24*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105680]
[ENSMUST00000105682]
[ENSMUST00000136646]
|
| AlphaFold |
Q80TZ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105680
AA Change: E1123*
|
| SMART Domains |
Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: E1123*
| 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 null
Transcript: ENSMUST00000105682
AA Change: E1391*
|
| SMART Domains |
Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: E1391*
| 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 null
Transcript: ENSMUST00000136646
AA Change: E24*
|
| SMART Domains |
Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852
AA Change: E24*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atrophin-1
|
1 |
199 |
2.2e-122 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219467
AA Change: E407*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,287,075 (GRCm39) |
W69R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,792,743 (GRCm39) |
V1328E |
possibly damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,356 (GRCm39) |
H244R |
possibly damaging |
Het |
| Camk1 |
C |
A |
6: 113,315,109 (GRCm39) |
V199L |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,328,283 (GRCm39) |
K661I |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,344,874 (GRCm39) |
V444I |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,243,715 (GRCm39) |
Y1580* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,362,663 (GRCm39) |
N339Y |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,721 (GRCm39) |
D280V |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,113,019 (GRCm39) |
D1557V |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,065 (GRCm39) |
V232A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,105,726 (GRCm39) |
I514T |
possibly damaging |
Het |
| Gm14443 |
A |
T |
2: 175,010,693 (GRCm39) |
C584* |
probably null |
Het |
| Gm2696 |
T |
A |
10: 77,672,034 (GRCm39) |
C78S |
unknown |
Het |
| Gm4131 |
T |
C |
14: 62,701,300 (GRCm39) |
D276G |
possibly damaging |
Het |
| Gm5114 |
C |
T |
7: 39,060,657 (GRCm39) |
G64D |
probably benign |
Het |
| Gsx2 |
G |
T |
5: 75,236,755 (GRCm39) |
A112S |
probably benign |
Het |
| Hebp1 |
G |
T |
6: 135,114,919 (GRCm39) |
R181S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,488,557 (GRCm39) |
G3616D |
probably damaging |
Het |
| Hemgn |
T |
G |
4: 46,394,638 (GRCm39) |
T491P |
probably benign |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Itsn1 |
T |
C |
16: 91,636,721 (GRCm39) |
S723P |
unknown |
Het |
| Kat6a |
G |
A |
8: 23,398,293 (GRCm39) |
G287D |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,907,757 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
C |
A |
7: 140,778,246 (GRCm39) |
D79E |
possibly damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,544,303 (GRCm39) |
Q34* |
probably null |
Het |
| Mlxipl |
A |
G |
5: 135,157,483 (GRCm39) |
M340V |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,756,563 (GRCm39) |
T604A |
possibly damaging |
Het |
| Or13a26 |
G |
T |
7: 140,284,607 (GRCm39) |
V148L |
probably benign |
Het |
| Or1n1 |
T |
A |
2: 36,749,610 (GRCm39) |
Y250F |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,658 (GRCm39) |
S115T |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,710,884 (GRCm39) |
V1022G |
unknown |
Het |
| Pank1 |
T |
G |
19: 34,855,989 (GRCm39) |
H163P |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,736 (GRCm39) |
Q485R |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,734 (GRCm39) |
S655R |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,467 (GRCm39) |
C319* |
probably null |
Het |
| Pipox |
A |
T |
11: 77,774,804 (GRCm39) |
L93* |
probably null |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,482 (GRCm39) |
V265G |
|
Het |
| Pld3 |
G |
A |
7: 27,239,079 (GRCm39) |
Q149* |
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,784,316 (GRCm39) |
Y383N |
probably damaging |
Het |
| Prpf3 |
T |
A |
3: 95,748,021 (GRCm39) |
T415S |
possibly damaging |
Het |
| Rasgef1b |
G |
A |
5: 99,447,895 (GRCm39) |
T105I |
unknown |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ric3 |
A |
T |
7: 108,637,924 (GRCm39) |
D277E |
probably benign |
Het |
| Rnf44 |
A |
T |
13: 54,831,826 (GRCm39) |
M82K |
probably damaging |
Het |
| Rsph14 |
T |
C |
10: 74,795,516 (GRCm39) |
N223S |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,396 (GRCm39) |
E234G |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,642,900 (GRCm39) |
N349S |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,555,822 (GRCm39) |
C183Y |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,402,912 (GRCm39) |
I74T |
|
Het |
| Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,315,454 (GRCm39) |
D526V |
probably damaging |
Het |
| Smpdl3b |
G |
T |
4: 132,461,060 (GRCm39) |
T339N |
probably damaging |
Het |
| Speer1e |
A |
T |
5: 11,236,408 (GRCm39) |
Q147L |
probably benign |
Het |
| Spi1 |
G |
A |
2: 90,945,516 (GRCm39) |
G199D |
probably damaging |
Het |
| Stx2 |
T |
C |
5: 129,070,564 (GRCm39) |
T118A |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,088,015 (GRCm39) |
S1355R |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,389,964 (GRCm39) |
T245A |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,760,653 (GRCm39) |
A120V |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,370,934 (GRCm39) |
G198W |
probably damaging |
Het |
| Wdtc1 |
G |
T |
4: 133,041,114 (GRCm39) |
H46N |
probably damaging |
Het |
| Zbtb1 |
C |
A |
12: 76,432,646 (GRCm39) |
R211S |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,775,207 (GRCm39) |
V151A |
probably benign |
Het |
| Zfp219 |
T |
C |
14: 52,244,899 (GRCm39) |
T499A |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,940 (GRCm39) |
F31L |
probably damaging |
Het |
| Zfp879 |
C |
T |
11: 50,729,321 (GRCm39) |
D26N |
probably 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 |
|
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 |
|
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'- AGCCAGGCTTTGAGGTGAAG -3'
(R):5'- TTCTTGGACAGAAGCTGCC -3'
Sequencing Primer
(F):5'- TTTGAGGTGAAGCCCCCAGAG -3'
(R):5'- TTGGACAGAAGCTGCCTCCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation