Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Rest'

329420

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77429027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 482 (V482A)

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: V482A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: V482A

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: V482A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: V482A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,367,040 (GRCm39)	K49M	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,317,499 (GRCm39)	D146E	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,631 (GRCm39)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Lman1	A	T	18: 66,124,797 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	probably damaging	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
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'- TGTCCCAGCAAAACAATGGATG -3'
(R):5'- TCTTAAGGGAAGCGCTTTGC -3'

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

Posted On

2015-07-21