Mutagenetix > Incidental Mutation

Incidental Mutation 'R6052:Rest'

484143

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

044220-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77429027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 482 (V482G)

Ref Sequence

ENSEMBL: ENSMUSP00000109076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080359] [ENSMUST00000113449]

AlphaFold

Q8VIG1

Predicted Effect

probably benign
Transcript: ENSMUST00000080359
AA Change: V482G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: V482G

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

probably benign
Transcript: ENSMUST00000113449
AA Change: V482G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: V482G

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

96% (80/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,537,165 (GRCm39)	F473L	probably benign	Het
Ankrd17	T	C	5: 90,401,691 (GRCm39)	I1449V	probably benign	Het
Aox4	T	A	1: 58,293,477 (GRCm39)	L943*	probably null	Het
Arap1	G	A	7: 101,053,240 (GRCm39)	V1257M	probably damaging	Het
B3gnt9	T	C	8: 105,981,230 (GRCm39)	S53G	probably benign	Het
Baiap3	A	T	17: 25,467,444 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,187,946 (GRCm39)	D554G	possibly damaging	Het
Cbfa2t2	T	C	2: 154,352,501 (GRCm39)	V165A	probably damaging	Het
Ccdc17	C	T	4: 116,457,145 (GRCm39)		probably null	Het
Cdcp1	A	G	9: 123,014,396 (GRCm39)	I126T	probably benign	Het
Cdk13	A	T	13: 17,895,800 (GRCm39)	D1036E	probably damaging	Het
Cfap157	A	G	2: 32,669,863 (GRCm39)	L240P	probably damaging	Het
Clec18a	C	A	8: 111,805,448 (GRCm39)	E218*	probably null	Het
Col3a1	T	C	1: 45,384,173 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,794,227 (GRCm39)	E682G	probably damaging	Het
Dnah14	T	C	1: 181,494,052 (GRCm39)	V1736A	possibly damaging	Het
Dpep2	T	A	8: 106,717,270 (GRCm39)	D162V	possibly damaging	Het
Drd3	C	A	16: 43,641,646 (GRCm39)	P321T	probably benign	Het
Egfr	A	G	11: 16,861,554 (GRCm39)	H1111R	probably benign	Het
Entpd1	T	C	19: 40,708,928 (GRCm39)	S58P	probably damaging	Het
Epha3	C	A	16: 63,423,967 (GRCm39)	V541L	possibly damaging	Het
Eri3	T	A	4: 117,421,825 (GRCm39)	D34E	probably damaging	Het
Eya1	T	C	1: 14,353,374 (GRCm39)	D58G	probably damaging	Het
Fat3	T	A	9: 15,833,975 (GRCm39)	S26C	probably null	Het
Fgl1	T	C	8: 41,653,548 (GRCm39)	D115G	probably damaging	Het
Fitm2	T	C	2: 163,312,036 (GRCm39)	Y59C	probably damaging	Het
Fras1	T	A	5: 96,912,725 (GRCm39)	I3343N	probably damaging	Het
Gba2	C	A	4: 43,568,330 (GRCm39)	C679F	probably damaging	Het
Glis2	G	A	16: 4,431,603 (GRCm39)		probably benign	Het
Gm5150	T	A	3: 16,044,917 (GRCm39)	I103F	probably damaging	Het
Hhipl2	T	C	1: 183,204,965 (GRCm39)	S313P	possibly damaging	Het
Hmgcs1	A	G	13: 120,166,995 (GRCm39)	D474G	probably benign	Het
Homer3	C	T	8: 70,744,076 (GRCm39)	Q267*	probably null	Het
Hsd17b8	A	G	17: 34,246,429 (GRCm39)	L118P	probably damaging	Het
Igkv8-28	C	T	6: 70,120,673 (GRCm39)	G90D	probably damaging	Het
Kalrn	T	A	16: 34,181,255 (GRCm39)	I128F	probably damaging	Het
Krt4	A	G	15: 101,831,194 (GRCm39)		probably null	Het
Lamb2	T	A	9: 108,364,811 (GRCm39)	C1188*	probably null	Het
Lsr	A	T	7: 30,658,042 (GRCm39)	M355K	probably damaging	Het
Map3k11	T	G	19: 5,747,430 (GRCm39)	D555E	probably benign	Het
Myocd	A	G	11: 65,087,082 (GRCm39)	Y282H	probably damaging	Het
Nae1	T	C	8: 105,261,176 (GRCm39)	I7M	probably benign	Het
Nprl3	G	T	11: 32,205,453 (GRCm39)	H102N	possibly damaging	Het
Nup62	T	A	7: 44,478,464 (GRCm39)	F160I	possibly damaging	Het
Or10w1	C	A	19: 13,631,871 (GRCm39)	P26Q	possibly damaging	Het
Or2d3c	A	T	7: 106,525,896 (GRCm39)	F257I	probably benign	Het
Or2r2	T	A	6: 42,463,588 (GRCm39)	T180S	possibly damaging	Het
Or5p76	A	G	7: 108,122,945 (GRCm39)	S71P	probably benign	Het
Or6c35	C	A	10: 129,169,071 (GRCm39)	T107K	possibly damaging	Het
Osbpl10	T	C	9: 114,896,383 (GRCm39)		probably null	Het
Pcdh9	C	T	14: 94,123,282 (GRCm39)	V963I	probably benign	Het
Phf12	A	G	11: 77,909,044 (GRCm39)	R375G	probably benign	Het
Piezo1	G	A	8: 123,233,008 (GRCm39)	T108M	probably damaging	Het
Plxnc1	T	A	10: 94,779,635 (GRCm39)	Q269L	probably benign	Het
Pomgnt1	T	A	4: 116,008,799 (GRCm39)	N11K	possibly damaging	Het
Pramel22	T	A	4: 143,382,222 (GRCm39)	D158V	probably damaging	Het
Prkd1	A	T	12: 50,413,083 (GRCm39)		probably null	Het
Prpf40a	T	C	2: 53,049,293 (GRCm39)	T190A	probably benign	Het
Prrc2b	A	C	2: 32,102,297 (GRCm39)	H790P	possibly damaging	Het
Ros1	T	A	10: 52,039,999 (GRCm39)	I322L	probably benign	Het
Rpl18	G	A	7: 45,369,554 (GRCm39)		probably benign	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sbf2	A	G	7: 110,040,741 (GRCm39)	L362S	probably damaging	Het
Sgsm3	A	G	15: 80,893,464 (GRCm39)	T409A	probably benign	Het
Slc16a14	T	C	1: 84,890,430 (GRCm39)	T292A	possibly damaging	Het
Spg11	T	G	2: 121,927,837 (GRCm39)	K649T	probably damaging	Het
Srprb	T	A	9: 103,067,415 (GRCm39)	I268F	possibly damaging	Het
Tap2	G	A	17: 34,433,683 (GRCm39)	G566S	probably damaging	Het
Tecpr2	T	C	12: 110,885,325 (GRCm39)	V168A	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Tmem181a	T	A	17: 6,330,890 (GRCm39)	L50H	probably damaging	Het
Tshz1	A	G	18: 84,032,194 (GRCm39)	I738T	probably damaging	Het
Tspan12	T	C	6: 21,772,637 (GRCm39)	E304G	probably benign	Het
Urb1	C	T	16: 90,559,271 (GRCm39)	G1671S	probably damaging	Het
Vmn2r2	T	C	3: 64,024,782 (GRCm39)	S600G	possibly damaging	Het
Wnt3	C	A	11: 103,699,000 (GRCm39)	Y35*	probably null	Het
Xpo7	T	C	14: 70,921,159 (GRCm39)	Y603C	possibly damaging	Het
Zfp457	G	A	13: 67,442,015 (GRCm39)	H91Y	probably damaging	Het
Zfp664	T	A	5: 124,963,250 (GRCm39)	C215S	unknown	Het
Zfp882	G	A	8: 72,668,349 (GRCm39)	G392D	probably benign	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
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
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'- TGTCCCAGCAAAACAATGGATG -3'
(R):5'- TCTTAAGGGAAGCGCTTTGC -3'

Sequencing Primer
(F):5'- GATGTCTCCAAAGTGAAGCTAAAG -3'
(R):5'- CCTTTGGCACGTTGGTACCG -3'

Posted On

2017-07-14