Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Rest'

676753

Institutional Source

Beutler Lab

Gene Symbol

Rest

Ensembl Gene

ENSMUSG00000029249

Gene Name

RE1-silencing transcription factor

Synonyms

NRSF, 2610008J04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77265491-77286432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77282511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 926 (G926R)

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: G926R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000079231
Gene: ENSMUSG00000029249
AA Change: G926R

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: G926R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109076
Gene: ENSMUSG00000029249
AA Change: G926R

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Rest

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02339:Rest	APN	5	77275288	missense	probably damaging	1.00
pace	UTSW	5	77275243	missense	possibly damaging	0.94
ruhe	UTSW	5	77268362	missense	possibly damaging	0.71
R0027:Rest	UTSW	5	77282551	missense	probably benign
R0479:Rest	UTSW	5	77282751	missense	probably damaging	0.99
R0526:Rest	UTSW	5	77281027	missense	probably damaging	0.98
R1865:Rest	UTSW	5	77280898	missense	probably damaging	1.00
R1869:Rest	UTSW	5	77268362	missense	possibly damaging	0.71
R1870:Rest	UTSW	5	77268362	missense	possibly damaging	0.71
R2089:Rest	UTSW	5	77281279	missense	possibly damaging	0.92
R2091:Rest	UTSW	5	77281279	missense	possibly damaging	0.92
R2091:Rest	UTSW	5	77281279	missense	possibly damaging	0.92
R2347:Rest	UTSW	5	77268593	missense	probably damaging	1.00
R2366:Rest	UTSW	5	77268187	missense	probably benign	0.00
R3609:Rest	UTSW	5	77282800	missense	probably benign	0.06
R4249:Rest	UTSW	5	77282112	missense	probably benign
R4471:Rest	UTSW	5	77281180	missense	probably benign	0.01
R4472:Rest	UTSW	5	77281180	missense	probably benign	0.01
R4685:Rest	UTSW	5	77275243	missense	possibly damaging	0.94
R5175:Rest	UTSW	5	77268372	missense	probably damaging	1.00
R5566:Rest	UTSW	5	77282326	missense	probably benign	0.00
R5686:Rest	UTSW	5	77281726	missense	probably benign	0.01
R5976:Rest	UTSW	5	77268272	missense	probably benign	0.07
R6052:Rest	UTSW	5	77281180	missense	probably benign	0.34
R6076:Rest	UTSW	5	77282974	missense	unknown
R6249:Rest	UTSW	5	77281224	missense	probably benign	0.01
R6448:Rest	UTSW	5	77281471	missense	possibly damaging	0.75
R6681:Rest	UTSW	5	77280997	missense	probably damaging	1.00
R6974:Rest	UTSW	5	77268199	missense	probably damaging	1.00
R7185:Rest	UTSW	5	77282484	missense	probably benign
R7216:Rest	UTSW	5	77282608	missense	probably benign	0.04
R7355:Rest	UTSW	5	77268028	missense	probably benign	0.23
R7360:Rest	UTSW	5	77281129	missense	probably benign	0.36
R7705:Rest	UTSW	5	77268272	missense	probably damaging	1.00
R8052:Rest	UTSW	5	77268324	missense	probably benign	0.04
R8220:Rest	UTSW	5	77282478	missense	probably benign
R8441:Rest	UTSW	5	77281919	missense	possibly damaging	0.95
R8699:Rest	UTSW	5	77281542	missense	probably benign	0.04
R8940:Rest	UTSW	5	77282868	missense	possibly damaging	0.91
R8961:Rest	UTSW	5	77268635	missense	probably damaging	1.00
R9165:Rest	UTSW	5	77281804	small deletion	probably benign
R9167:Rest	UTSW	5	77281804	small deletion	probably benign
R9168:Rest	UTSW	5	77281804	small deletion	probably benign
R9170:Rest	UTSW	5	77281804	small deletion	probably benign
R9377:Rest	UTSW	5	77268281	missense	possibly damaging	0.47
R9476:Rest	UTSW	5	77268251	missense	probably damaging	0.99
R9566:Rest	UTSW	5	77268430	nonsense	probably null
R9596:Rest	UTSW	5	77275294	missense	probably damaging	1.00
Z1177:Rest	UTSW	5	77280909	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GTCTCTGATGGGGAAGGAAC -3'
(R):5'- CACTCCCCTCAGACATGTTG -3'

Sequencing Primer
(F):5'- GGGAAGGAACTATAGTATTCCCTCTC -3'
(R):5'- AGGTCACTTCCATCATGGCTATGG -3'

Posted On

2021-07-15