Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Rest'

443349

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5686 (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 77429573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 664 (V664A)

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: V664A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: V664A

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: V664A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: V664A

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: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	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
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'- GCAAAGCGCTTCCCTTAAG -3'
(R):5'- GAAGGTTCCATCTCGGCAAG -3'

Sequencing Primer
(F):5'- ATGGGGCAGACAGAACCTTCTTC -3'
(R):5'- CCCCTTTGGGGAGGCTGGGGGTAAGT -3'

Posted On

2016-11-09