Mutagenetix > Incidental Mutation

Incidental Mutation 'R1869:Rest'

210519

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

039891-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77416209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 141 (V141E)

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: V141E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: V141E

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: V141E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: V141E

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

noncoding transcript
Transcript: ENSMUST00000175320

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,840,067 (GRCm39)	L110P	probably damaging	Het
6030458C11Rik	T	C	15: 12,817,993 (GRCm39)	D168G	probably damaging	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abhd11	A	G	5: 135,040,471 (GRCm39)	Y168C	probably damaging	Het
Actr5	A	C	2: 158,480,643 (GRCm39)	T554P	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts16	A	G	13: 70,883,866 (GRCm39)	L1103P	probably damaging	Het
Adgrb3	A	T	1: 25,865,519 (GRCm39)	I108K	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Aoc3	T	A	11: 101,222,293 (GRCm39)	Y176*	probably null	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Ap4b1	T	A	3: 103,728,184 (GRCm39)	Y399*	probably null	Het
Arhgef5	A	T	6: 43,265,616 (GRCm39)	I1553F	probably damaging	Het
Bag6	T	C	17: 35,361,802 (GRCm39)	V541A	probably benign	Het
Bdp1	A	C	13: 100,178,709 (GRCm39)	V1879G	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Bsnd	C	T	4: 106,343,833 (GRCm39)	V158I	probably benign	Het
Cachd1	C	A	4: 100,840,587 (GRCm39)	H880N	probably damaging	Het
Ccdc27	T	C	4: 154,111,220 (GRCm39)		probably null	Het
Cd74	C	T	18: 60,943,484 (GRCm39)	P190S	probably benign	Het
Cep68	A	T	11: 20,190,217 (GRCm39)	L265Q	probably damaging	Het
Cfap70	G	A	14: 20,458,678 (GRCm39)	Q772*	probably null	Het
CK137956	T	A	4: 127,864,327 (GRCm39)	S101C	possibly damaging	Het
Clca3a2	G	A	3: 144,512,164 (GRCm39)	T524M	probably benign	Het
Cxcr6	T	C	9: 123,639,022 (GRCm39)	S15P	probably benign	Het
Cyfip2	T	A	11: 46,114,995 (GRCm39)	Y904F	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Ddx56	C	T	11: 6,213,993 (GRCm39)	V389M	possibly damaging	Het
Dmp1	A	T	5: 104,359,942 (GRCm39)	D206V	probably damaging	Het
Dnah17	A	T	11: 117,938,015 (GRCm39)	C3350*	probably null	Het
Dst	A	T	1: 34,291,913 (GRCm39)	S877C	probably damaging	Het
Ermp1	A	G	19: 29,623,415 (GRCm39)	S192P	possibly damaging	Het
F13b	G	A	1: 139,438,672 (GRCm39)	D359N	probably benign	Het
Fam171a1	A	T	2: 3,227,189 (GRCm39)	Q769L	possibly damaging	Het
Fap	T	C	2: 62,359,071 (GRCm39)	R411G	probably damaging	Het
Fbn1	A	G	2: 125,193,947 (GRCm39)	V1340A	probably benign	Het
Fbxw19	T	C	9: 109,311,100 (GRCm39)	I370V	probably benign	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Frem2	T	G	3: 53,442,617 (GRCm39)	D2640A	probably benign	Het
Fzd4	T	C	7: 89,056,454 (GRCm39)	V167A	probably benign	Het
Galnt3	T	C	2: 65,928,123 (GRCm39)	I258V	possibly damaging	Het
Galr2	T	C	11: 116,174,069 (GRCm39)	V233A	possibly damaging	Het
Gldc	G	T	19: 30,116,732 (GRCm39)	Q407K	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr89	A	G	3: 96,782,975 (GRCm39)	I325T	probably benign	Het
Grap	T	A	11: 61,555,015 (GRCm39)	Y61N	possibly damaging	Het
Hbs1l	G	T	10: 21,234,305 (GRCm39)		probably null	Het
Hexb	T	A	13: 97,327,767 (GRCm39)	E134D	probably benign	Het
Hydin	T	A	8: 111,227,337 (GRCm39)	V1507D	possibly damaging	Het
Igkv8-16	C	A	6: 70,363,971 (GRCm39)	G17V	probably benign	Het
Kdm4a	T	A	4: 117,996,068 (GRCm39)	Q987L	probably null	Het
Krt76	A	G	15: 101,797,922 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,660,729 (GRCm39)	S238P	probably benign	Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Lipn	A	G	19: 34,058,139 (GRCm39)	T287A	possibly damaging	Het
Macf1	T	C	4: 123,244,921 (GRCm39)	S466G	probably damaging	Het
Map3k5	C	A	10: 20,007,855 (GRCm39)	S1220*	probably null	Het
Map4	T	A	9: 109,897,996 (GRCm39)	S754R	possibly damaging	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mroh9	A	G	1: 162,854,082 (GRCm39)	S773P	probably damaging	Het
Mtus1	A	C	8: 41,529,267 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,139,117 (GRCm39)	P533S	probably damaging	Het
Muc13	A	T	16: 33,624,970 (GRCm39)	I282F	probably damaging	Het
Mucl3	A	G	17: 35,949,305 (GRCm39)	L98P	possibly damaging	Het
Myh14	T	A	7: 44,261,067 (GRCm39)	Q1816L	possibly damaging	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Olfml2b	A	G	1: 170,496,812 (GRCm39)	D481G	probably damaging	Het
Or13g1	T	A	7: 85,955,875 (GRCm39)	I149F	possibly damaging	Het
Or2ag19	T	G	7: 106,444,301 (GRCm39)	I161S	probably benign	Het
Or5g23	A	G	2: 85,438,844 (GRCm39)	S137P	probably benign	Het
Or8b37	T	A	9: 37,959,498 (GRCm39)		probably null	Het
Or8k3b	T	A	2: 86,520,735 (GRCm39)	I195F	probably damaging	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pcnt	T	C	10: 76,215,740 (GRCm39)	E2347G	probably null	Het
Phax	T	A	18: 56,706,176 (GRCm39)	V22D	probably benign	Het
Pik3ca	T	C	3: 32,504,499 (GRCm39)	F667S	probably damaging	Het
Pkd1	T	C	17: 24,813,905 (GRCm39)	F4123S	probably damaging	Het
Pkhd1	A	G	1: 20,685,491 (GRCm39)		probably null	Het
Plcb1	G	A	2: 135,152,934 (GRCm39)	R368K	probably benign	Het
Prrc2a	G	T	17: 35,372,284 (GRCm39)	R1739S	possibly damaging	Het
Psg23	A	T	7: 18,348,543 (GRCm39)	M88K	probably benign	Het
Pstk	T	A	7: 130,989,526 (GRCm39)	Y354N	probably damaging	Het
Rab39	A	G	9: 53,617,231 (GRCm39)	I62T	possibly damaging	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rasgrp1	T	C	2: 117,120,828 (GRCm39)	Y431C	probably damaging	Het
Rnf167	T	A	11: 70,540,965 (GRCm39)	I197N	possibly damaging	Het
Rtn1	A	G	12: 72,354,942 (GRCm39)	S335P	probably damaging	Het
Ryr2	G	T	13: 11,676,961 (GRCm39)	R3297S	probably damaging	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scgb1b24	T	C	7: 33,443,469 (GRCm39)	Y43H	probably damaging	Het
Sh3rf3	T	A	10: 58,919,335 (GRCm39)	M484K	probably damaging	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc1a7	A	G	4: 107,865,561 (GRCm39)	T350A	probably damaging	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slk	T	C	19: 47,613,891 (GRCm39)	F916L	probably damaging	Het
Snap91	T	A	9: 86,672,194 (GRCm39)		probably null	Het
Snrpb2	A	T	2: 142,907,106 (GRCm39)	R25S	possibly damaging	Het
Specc1l	T	C	10: 75,097,659 (GRCm39)	Y811H	probably damaging	Het
Sprr2h	A	G	3: 92,293,925 (GRCm39)		probably benign	Het
Sult2a5	A	T	7: 13,358,045 (GRCm39)	I26F	probably benign	Het
Syt13	C	T	2: 92,776,448 (GRCm39)	T245I	possibly damaging	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Telo2	T	A	17: 25,333,968 (GRCm39)	D93V	probably benign	Het
Tet2	A	T	3: 133,187,202 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,931,570 (GRCm39)	C198S	probably damaging	Het
Ticrr	T	C	7: 79,328,883 (GRCm39)	F674S	probably damaging	Het
Tmem129	C	A	5: 33,811,843 (GRCm39)	C31F	probably damaging	Het
Tmem132a	T	A	19: 10,836,052 (GRCm39)	D826V	possibly damaging	Het
Tpd52	T	C	3: 9,018,862 (GRCm39)		probably null	Het
Trub2	A	G	2: 29,667,678 (GRCm39)	S321P	probably benign	Het
Ttc29	A	G	8: 79,009,014 (GRCm39)	T295A	probably benign	Het
Tubb1	G	A	2: 174,298,482 (GRCm39)	S89N	probably benign	Het
Tut4	T	A	4: 108,386,497 (GRCm39)	F1122L	probably damaging	Het
Ubap2	C	A	4: 41,233,617 (GRCm39)	G91V	probably damaging	Het
Ugt2b35	A	G	5: 87,149,147 (GRCm39)	N133D	probably damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn1r220	A	C	13: 23,368,457 (GRCm39)	C80G	probably damaging	Het
Vmn1r79	A	G	7: 11,910,574 (GRCm39)	E152G	probably benign	Het
Vmn2r28	T	C	7: 5,489,345 (GRCm39)	Y498C	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zfp972	A	G	2: 177,563,480 (GRCm39)		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
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
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'- ACCACTTCTCAGAAAGTGAAGGAG -3'
(R):5'- ATTGTAGCCACAGCGGTCAC -3'

Sequencing Primer
(F):5'- TTCTCAGAAAGTGAAGGAGAAGGCC -3'
(R):5'- ATGGGGCCTTTGGAGAACTC -3'

Posted On

2014-06-30