Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Rest'

619100

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77416171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 128 (I128M)

Ref Sequence

ENSEMBL: ENSMUSP00000079231 (fasta)

Gene Model

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

AlphaFold

Q8VIG1

Predicted Effect

probably benign
Transcript: ENSMUST00000080359
AA Change: I128M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: I128M

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: I128M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: I128M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Cd79b	G	T	11: 106,204,526 (GRCm39)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
F11r	T	A	1: 171,289,191 (GRCm39)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,142,078 (GRCm39)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,142,084 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Shd	G	C	17: 56,283,235 (GRCm39)	S288T	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Syt8	G	A	7: 141,993,881 (GRCm39)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly 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
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
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'- GCAGATGGCCGAATTGATG -3'
(R):5'- TTGGAGAACTCGCCCTCTTC -3'

Sequencing Primer
(F):5'- TTGATGCCCGTGGGAGACAAC -3'
(R):5'- CCGACTCCCAGGCTTTG -3'

Posted On

2020-01-23