Mutagenetix > Incidental Mutation

Incidental Mutation 'R8940:Rest'

680904

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

068780-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77413338-77434279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77430715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1045 (F1045L)

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: F1045L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: F1045L

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: F1045L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: F1045L

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

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,241,068 (GRCm39)	S1709T	probably benign	Het
Abcc12	A	G	8: 87,287,440 (GRCm39)	V135A	probably benign	Het
Alkbh3	G	T	2: 93,838,391 (GRCm39)	P60H	probably damaging	Het
Armc3	A	C	2: 19,240,393 (GRCm39)	Y50S	probably damaging	Het
Arpc4	T	C	6: 113,362,599 (GRCm39)	V70A	probably benign	Het
Atp13a4	A	G	16: 29,273,508 (GRCm39)		probably null	Het
Bco1	A	T	8: 117,857,347 (GRCm39)	Y438F	probably benign	Het
Cacna1b	C	A	2: 24,653,084 (GRCm39)		probably benign	Het
Cdh17	C	T	4: 11,783,226 (GRCm39)	S189L	probably damaging	Het
Cltc	T	C	11: 86,621,072 (GRCm39)	T312A	probably benign	Het
Crym	T	A	7: 119,794,703 (GRCm39)	N172I	probably benign	Het
Depdc7	A	G	2: 104,554,913 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,363,854 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,046,990 (GRCm39)		probably benign	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Fat2	A	T	11: 55,147,636 (GRCm39)	L3869M	possibly damaging	Het
Garnl3	T	C	2: 32,895,241 (GRCm39)		probably null	Het
Gldc	C	T	19: 30,128,884 (GRCm39)	M196I	probably benign	Het
Gm17078	C	T	14: 51,846,342 (GRCm39)	V120M	probably damaging	Het
Gm5157	G	A	7: 20,918,685 (GRCm39)	S286F	probably damaging	Het
Gm6337	C	T	14: 6,055,308 (GRCm38)	C187Y	probably damaging	Het
Golgb1	A	G	16: 36,736,759 (GRCm39)	D2002G	probably damaging	Het
Gpr179	T	C	11: 97,228,675 (GRCm39)	N1160S	probably damaging	Het
Gulo	A	G	14: 66,235,040 (GRCm39)	V227A	probably benign	Het
Hlcs	G	A	16: 94,032,085 (GRCm39)	A31V	probably benign	Het
Hs1bp3	T	C	12: 8,391,980 (GRCm39)	S361P	probably benign	Het
Ifi44	G	A	3: 151,454,946 (GRCm39)	P93L	probably benign	Het
Izumo2	T	A	7: 44,362,470 (GRCm39)	M78K	probably benign	Het
Lin54	T	C	5: 100,594,530 (GRCm39)	E545G	probably damaging	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Matr3	T	G	18: 35,705,640 (GRCm39)	S188R	probably damaging	Het
Mug1	A	T	6: 121,858,642 (GRCm39)	H1120L		Het
Myef2l	A	T	3: 10,153,406 (GRCm39)	L58F	probably benign	Het
Ndst4	A	G	3: 125,474,802 (GRCm39)		probably benign	Het
Nlrp3	G	A	11: 59,455,870 (GRCm39)	V889M	probably benign	Het
Or1x6	A	G	11: 50,939,455 (GRCm39)	I174V	probably benign	Het
Or2r2	A	G	6: 42,463,212 (GRCm39)	M305T	probably benign	Het
Or5g29	A	G	2: 85,421,528 (GRCm39)	I215V	probably benign	Het
Or5m5	A	T	2: 85,814,543 (GRCm39)	M120L	probably benign	Het
Or8d4	T	A	9: 40,038,480 (GRCm39)	Y259F	probably damaging	Het
P4hb	A	T	11: 120,458,828 (GRCm39)	D182E	probably benign	Het
Pcdh10	A	G	3: 45,338,620 (GRCm39)	T926A	possibly damaging	Het
Pikfyve	T	C	1: 65,286,129 (GRCm39)	S1078P	probably benign	Het
Plcl2	A	T	17: 50,915,790 (GRCm39)	D933V	probably damaging	Het
Pramel7	G	A	2: 87,321,612 (GRCm39)	T141I	probably benign	Het
Prepl	A	T	17: 85,376,354 (GRCm39)	C567S	probably damaging	Het
Prpsap1	A	T	11: 116,370,615 (GRCm39)	M114K	probably damaging	Het
Ptk2b	A	C	14: 66,407,685 (GRCm39)		probably null	Het
Rnf19a	A	G	15: 36,260,284 (GRCm39)	C254R	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Rsf1	GGCG	GGCGACTGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Setdb1	T	A	3: 95,263,483 (GRCm39)	M8L	probably benign	Het
Setdb2	A	G	14: 59,646,956 (GRCm39)	S536P	probably damaging	Het
Sipa1l1	T	C	12: 82,404,040 (GRCm39)	L511P	probably damaging	Het
Slc12a9	T	A	5: 137,326,755 (GRCm39)	H234L	probably benign	Het
Slc35e2	G	T	4: 155,694,542 (GRCm39)	G30W	probably damaging	Het
Slc6a15	T	C	10: 103,229,357 (GRCm39)	V132A	probably damaging	Het
Slc7a10	A	G	7: 34,899,875 (GRCm39)	T486A	probably benign	Het
Smc5	T	C	19: 23,237,126 (GRCm39)	Y235C	probably benign	Het
Sorcs3	T	C	19: 48,784,908 (GRCm39)		probably null	Het
Spata21	T	C	4: 140,832,216 (GRCm39)	L459P	probably damaging	Het
Tbc1d9	A	G	8: 83,981,452 (GRCm39)	I706M	probably damaging	Het
Tcp11	T	A	17: 28,299,204 (GRCm39)	E17V	probably damaging	Het
Tiparp	A	G	3: 65,439,299 (GRCm39)	D23G	probably benign	Het
Tmem108	A	G	9: 103,377,156 (GRCm39)	S98P	possibly damaging	Het
Tmem35b	A	G	4: 127,021,673 (GRCm39)	D56G	probably damaging	Het
Tnr	G	C	1: 159,685,867 (GRCm39)	G366A	probably damaging	Het
Ttc3	A	G	16: 94,230,358 (GRCm39)	S852G	possibly damaging	Het
Ttn	G	A	2: 76,596,938 (GRCm39)	L19992F	probably damaging	Het
Ush2a	T	A	1: 188,132,505 (GRCm39)	M909K	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wif1	A	G	10: 120,935,684 (GRCm39)	H333R	probably benign	Het
Zfp119a	A	G	17: 56,172,551 (GRCm39)	C431R	probably damaging	Het
Zfp345	G	A	2: 150,314,277 (GRCm39)	P420L	probably benign	Het
Zfp608	C	T	18: 55,033,301 (GRCm39)	D411N	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp74	A	G	7: 29,634,772 (GRCm39)	V312A	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
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
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'- GGCATCCATAGCCATGATGG -3'
(R):5'- TTACTGAAAACTCAGCCTTGGAGAC -3'

Sequencing Primer
(F):5'- TCCATAGCCATGATGGAAGTGACC -3'
(R):5'- CTCAGCCTTGGAGACTAATTAAAGC -3'

Posted On

2021-08-31