Incidental Mutation 'R2091:Rest'
| ID |
231770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rest
|
| Ensembl Gene |
ENSMUSG00000029249 |
| Gene Name |
RE1-silencing transcription factor |
| Synonyms |
NRSF, 2610008J04Rik |
| MMRRC Submission |
040096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77413338-77434279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77429126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 515
(K515R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080359]
[ENSMUST00000113449]
|
| AlphaFold |
Q8VIG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080359
AA Change: K515R
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: K515R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
95 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
154 |
176 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
4.23e0 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
327 |
350 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
384 |
407 |
2.53e-2 |
SMART |
|
low complexity region
|
419 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
895 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1036 |
1058 |
2.2e-2 |
SMART |
|
coiled coil region
|
1060 |
1082 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113449
AA Change: K515R
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: K515R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
95 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
154 |
176 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
4.23e0 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
327 |
350 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
384 |
407 |
2.53e-2 |
SMART |
|
low complexity region
|
419 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
895 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1036 |
1058 |
2.2e-2 |
SMART |
|
coiled coil region
|
1060 |
1082 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1164 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that represses neuronal genes in non-neuronal tissues. It is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regular of neurogenesis. Alternatively spliced transcript variants have been described [provided by RefSeq, Jul 2010]
PHENOTYPE: Targeted mutation of this gene results in embryonic lethality preceded by growth retardation and abnormal cellular organization in several tissues, including the hindbrain and somites. Mice with conditional deletions exhibit increased apoptosis in affected cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
probably null |
Het |
|
| Other mutations in Rest |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02339:Rest
|
APN |
5 |
77,423,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pace
|
UTSW |
5 |
77,423,090 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
ruhe
|
UTSW |
5 |
77,416,209 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0027:Rest
|
UTSW |
5 |
77,430,398 (GRCm39) |
missense |
probably benign |
|
|
R0479:Rest
|
UTSW |
5 |
77,430,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0526:Rest
|
UTSW |
5 |
77,428,874 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Rest
|
UTSW |
5 |
77,428,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Rest
|
UTSW |
5 |
77,416,209 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1870:Rest
|
UTSW |
5 |
77,416,209 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2089:Rest
|
UTSW |
5 |
77,429,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2091:Rest
|
UTSW |
5 |
77,429,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2347:Rest
|
UTSW |
5 |
77,416,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Rest
|
UTSW |
5 |
77,416,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3609:Rest
|
UTSW |
5 |
77,430,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4249:Rest
|
UTSW |
5 |
77,429,959 (GRCm39) |
missense |
probably benign |
|
|
R4471:Rest
|
UTSW |
5 |
77,429,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4472:Rest
|
UTSW |
5 |
77,429,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4685:Rest
|
UTSW |
5 |
77,423,090 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5175:Rest
|
UTSW |
5 |
77,416,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Rest
|
UTSW |
5 |
77,430,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5686:Rest
|
UTSW |
5 |
77,429,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5976:Rest
|
UTSW |
5 |
77,416,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6052:Rest
|
UTSW |
5 |
77,429,027 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6076:Rest
|
UTSW |
5 |
77,430,821 (GRCm39) |
missense |
unknown |
|
|
R6249:Rest
|
UTSW |
5 |
77,429,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6448:Rest
|
UTSW |
5 |
77,429,318 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6681:Rest
|
UTSW |
5 |
77,428,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Rest
|
UTSW |
5 |
77,416,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Rest
|
UTSW |
5 |
77,430,331 (GRCm39) |
missense |
probably benign |
|
|
R7216:Rest
|
UTSW |
5 |
77,430,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7355:Rest
|
UTSW |
5 |
77,415,875 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7360:Rest
|
UTSW |
5 |
77,428,976 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7705:Rest
|
UTSW |
5 |
77,416,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Rest
|
UTSW |
5 |
77,416,171 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8220:Rest
|
UTSW |
5 |
77,430,325 (GRCm39) |
missense |
probably benign |
|
|
R8441:Rest
|
UTSW |
5 |
77,429,766 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8699:Rest
|
UTSW |
5 |
77,429,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8879:Rest
|
UTSW |
5 |
77,430,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8940:Rest
|
UTSW |
5 |
77,430,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8961:Rest
|
UTSW |
5 |
77,416,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Rest
|
UTSW |
5 |
77,429,651 (GRCm39) |
small deletion |
probably benign |
|
|
R9167:Rest
|
UTSW |
5 |
77,429,651 (GRCm39) |
small deletion |
probably benign |
|
|
R9168:Rest
|
UTSW |
5 |
77,429,651 (GRCm39) |
small deletion |
probably benign |
|
|
R9170:Rest
|
UTSW |
5 |
77,429,651 (GRCm39) |
small deletion |
probably benign |
|
|
R9377:Rest
|
UTSW |
5 |
77,416,128 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9476:Rest
|
UTSW |
5 |
77,416,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9566:Rest
|
UTSW |
5 |
77,416,277 (GRCm39) |
nonsense |
probably null |
|
|
R9596:Rest
|
UTSW |
5 |
77,423,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rest
|
UTSW |
5 |
77,428,756 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTAATAACGCCGTCAG -3'
(R):5'- TCTTAAGGGAAGCGCTTTGC -3'
Sequencing Primer
(F):5'- CAAAGGGGGATGTGTCTGG -3'
(R):5'- GCTTCTTGACCCCCGGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation