Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Rest'

668922

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

068553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77429389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 603 (G603R)

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: G603R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: G603R

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: G603R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: G603R

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: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,450,515 (GRCm39)	W30R	probably damaging	Het
Abca3	A	G	17: 24,627,199 (GRCm39)	D1555G	probably benign	Het
Anapc1	T	C	2: 128,483,373 (GRCm39)	T1241A	probably damaging	Het
Ano5	G	A	7: 51,243,519 (GRCm39)	V881I	probably benign	Het
Appl1	G	A	14: 26,662,212 (GRCm39)	S490L	probably benign	Het
Asxl3	A	G	18: 22,567,664 (GRCm39)	T81A	probably benign	Het
Bclaf1	T	C	10: 20,209,184 (GRCm39)	S754P	possibly damaging	Het
Bicra	G	T	7: 15,723,113 (GRCm39)	Q135K	probably benign	Het
Cad	T	C	5: 31,233,605 (GRCm39)	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,168,683 (GRCm39)	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,462,995 (GRCm39)	I59T	probably damaging	Het
Ccr6	C	T	17: 8,475,398 (GRCm39)	T201M	probably benign	Het
Cd5	A	G	19: 10,702,556 (GRCm39)	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,362 (GRCm39)	D1017E	probably damaging	Het
Cfap298	T	C	16: 90,727,945 (GRCm39)	K82E	probably benign	Het
Cntnap4	A	T	8: 113,484,228 (GRCm39)	D427V	probably damaging	Het
Col4a4	T	A	1: 82,433,455 (GRCm39)	N1496I	unknown	Het
Crybg3	A	G	16: 59,375,291 (GRCm39)	Y274H	probably damaging	Het
Cubn	C	A	2: 13,388,770 (GRCm39)	S1479I	probably damaging	Het
Diras2	A	T	13: 52,662,143 (GRCm39)	C55S	probably damaging	Het
Dleu7	G	A	14: 62,530,279 (GRCm39)	R41C	probably benign	Het
Dync2i1	T	C	12: 116,171,321 (GRCm39)	T972A	probably benign	Het
Efcab3	A	G	11: 104,672,072 (GRCm39)	T1464A	probably benign	Het
Exo5	A	G	4: 120,779,193 (GRCm39)	I224T	probably damaging	Het
Fcho1	T	C	8: 72,162,277 (GRCm39)	I774V	possibly damaging	Het
Gclm	T	G	3: 122,059,972 (GRCm39)	S251A	possibly damaging	Het
Gm13889	T	C	2: 93,787,327 (GRCm39)	Q49R	unknown	Het
Gm35315	T	A	5: 110,228,392 (GRCm39)	H18L	probably benign	Het
Gm9949	G	A	18: 62,317,043 (GRCm39)	G65R	unknown	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gria4	C	A	9: 4,424,347 (GRCm39)	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351 (GRCm39)	Y838S	probably damaging	Het
Hrh3	A	G	2: 179,743,149 (GRCm39)	W160R	probably damaging	Het
Htr4	G	A	18: 62,570,763 (GRCm39)	A273T	probably damaging	Het
Lig3	G	T	11: 82,685,376 (GRCm39)	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,172,207 (GRCm39)	V1594E		Het
Map3k10	A	T	7: 27,367,780 (GRCm39)	V286D	probably damaging	Het
Map4k4	T	A	1: 40,015,910 (GRCm39)	V117E	unknown	Het
Mdga1	C	T	17: 30,061,348 (GRCm39)	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363 (GRCm39)	L248F	possibly damaging	Het
Ncaph	T	C	2: 126,963,096 (GRCm39)	D379G	possibly damaging	Het
Neb	A	G	2: 52,037,246 (GRCm39)	V7064A	probably benign	Het
Neb	G	A	2: 52,102,563 (GRCm39)	T4570M	probably benign	Het
Npy5r	G	T	8: 67,134,274 (GRCm39)	T173K	probably damaging	Het
Or52a33	A	T	7: 103,288,822 (GRCm39)	I175N	probably damaging	Het
Or5b94	A	G	19: 12,652,246 (GRCm39)	M226V	probably benign	Het
Or5b97	A	T	19: 12,878,828 (GRCm39)	F105L	possibly damaging	Het
Or5g25	A	T	2: 85,478,330 (GRCm39)	C112S	possibly damaging	Het
Or8u10	A	T	2: 85,915,518 (GRCm39)	I201N	probably damaging	Het
Oxsm	A	G	14: 16,242,631 (GRCm38)	I46T	possibly damaging	Het
Pcdha1	A	T	18: 37,064,076 (GRCm39)	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,875,975 (GRCm39)	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474 (GRCm39)	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,546,587 (GRCm39)	S304C	probably damaging	Het
Pramel11	A	T	4: 143,623,762 (GRCm39)	N137K	probably benign	Het
Ptprd	A	T	4: 75,959,629 (GRCm39)	F279I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs17	A	T	10: 5,868,194 (GRCm39)	L9M	probably benign	Het
Rtp1	A	G	16: 23,250,133 (GRCm39)	Y166C	probably damaging	Het
Sec24b	C	A	3: 129,798,653 (GRCm39)	R572I	probably damaging	Het
Setd1a	G	T	7: 127,385,774 (GRCm39)	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,859,235 (GRCm39)	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stat4	T	A	1: 52,111,096 (GRCm39)	M181K	probably benign	Het
Stk16	A	G	1: 75,188,682 (GRCm39)	E67G	probably benign	Het
Supv3l1	A	G	10: 62,268,234 (GRCm39)	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,674,361 (GRCm39)	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,473,120 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,293,772 (GRCm39)	I922N	probably damaging	Het
Uaca	G	T	9: 60,778,347 (GRCm39)	L911F	probably damaging	Het
Ubn1	A	T	16: 4,881,567 (GRCm39)	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,643,574 (GRCm39)	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678 (GRCm39)	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,306,080 (GRCm39)	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,508,234 (GRCm39)	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,155,742 (GRCm39)	N15K	probably benign	Het
Wdr46	T	A	17: 34,167,826 (GRCm39)	I513N	probably damaging	Het
Zfp788	A	G	7: 41,297,840 (GRCm39)	N159D	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
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
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'- GGTAACTACCAGGACTCGGAAG -3'
(R):5'- TCCATTTGAGCAGGCTCCAC -3'

Sequencing Primer
(F):5'- TCCGAAGAGCCTGTGAACG -3'
(R):5'- CGGAGGTGGCCCTGTTAG -3'

Posted On

2021-04-30