Mutagenetix > Incidental Mutation

Incidental Mutation 'R7605:Smarce1'

588255

Institutional Source

Beutler Lab

Gene Symbol

Smarce1

Ensembl Gene

ENSMUSG00000037935

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Synonyms

9030408N19Rik, BAF57, 5830412H02Rik, 2810417B20Rik

MMRRC Submission

045675-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99099873-99121843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99119118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000099422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103132] [ENSMUST00000103133]

AlphaFold

O54941

Predicted Effect

probably benign
Transcript: ENSMUST00000103132

SMART Domains

Protein: ENSMUSP00000099421
Gene: ENSMUSG00000035849

Domain	Start	End	E-Value	Type
Pfam:Filament	1	149	2.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103133
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099422
Gene: ENSMUSG00000037935
AA Change: T12A

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
HMG	65	135	8.37e-15	SMART
low complexity region	149	163	N/A	INTRINSIC
Blast:HMG	165	205	1e-20	BLAST
coiled coil region	222	319	N/A	INTRINSIC
low complexity region	395	411	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,881,899 (GRCm39)	L610P	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Asphd2	A	G	5: 112,539,807 (GRCm39)	W9R	probably damaging	Het
Blvrb	T	A	7: 27,165,218 (GRCm39)	H179Q	probably damaging	Het
Capn13	A	T	17: 73,652,132 (GRCm39)		probably null	Het
Casp6	A	T	3: 129,705,812 (GRCm39)	M160L	probably benign	Het
Chordc1	A	G	9: 18,215,668 (GRCm39)	E140G	probably benign	Het
Col24a1	A	T	3: 145,244,442 (GRCm39)	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,852,658 (GRCm39)	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,091,602 (GRCm39)	M306K	probably damaging	Het
Dhx33	A	G	11: 70,890,299 (GRCm39)	L240P	probably damaging	Het
Dna2	T	A	10: 62,796,054 (GRCm39)	D494E	probably benign	Het
Dnah7c	C	T	1: 46,671,470 (GRCm39)	R1620C	probably damaging	Het
Dpp8	G	A	9: 64,962,240 (GRCm39)	V427M	probably benign	Het
Dpt	G	A	1: 164,624,400 (GRCm39)	G34S	unknown	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Entpd5	T	G	12: 84,443,482 (GRCm39)	H62P	probably damaging	Het
Ep300	A	C	15: 81,505,353 (GRCm39)	M658L	unknown	Het
Epb41l4a	T	A	18: 33,930,504 (GRCm39)	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ephb2	A	T	4: 136,498,419 (GRCm39)	V220E	probably damaging	Het
Fam187a	T	A	11: 102,776,874 (GRCm39)	L226H	possibly damaging	Het
Fbxo42	G	A	4: 140,927,129 (GRCm39)	A470T	probably benign	Het
Fcgrt	C	T	7: 44,744,675 (GRCm39)	W264*	probably null	Het
Flt3	A	C	5: 147,286,386 (GRCm39)	H733Q	probably benign	Het
Gabrr2	A	G	4: 33,082,560 (GRCm39)	D228G	probably damaging	Het
Gars1	T	C	6: 55,054,735 (GRCm39)	S681P	probably damaging	Het
Gata2	T	C	6: 88,177,390 (GRCm39)	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,672,384 (GRCm39)	N100I		Het
Grik4	A	G	9: 42,599,367 (GRCm39)	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,678 (GRCm39)	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	C	T	9: 27,234,608 (GRCm39)	T491I	probably damaging	Het
Impa1	C	T	3: 10,389,147 (GRCm39)	V105I	probably damaging	Het
Inf2	A	G	12: 112,567,771 (GRCm39)	T134A	probably damaging	Het
Itgb4	T	A	11: 115,897,302 (GRCm39)	V1521E	probably benign	Het
Iws1	T	A	18: 32,222,540 (GRCm39)	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,795,305 (GRCm39)	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244 (GRCm39)	C83R	probably damaging	Het
Madd	G	A	2: 91,000,055 (GRCm39)	T617M	possibly damaging	Het
Magi2	A	G	5: 20,433,383 (GRCm39)	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599 (GRCm39)	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,214,591 (GRCm39)	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,292,862 (GRCm39)	I230F	probably benign	Het
Mroh2b	C	T	15: 4,974,505 (GRCm39)	L1162F	probably damaging	Het
Or11i1	G	T	3: 106,729,337 (GRCm39)	H179Q	probably damaging	Het
Or2aj5	T	C	16: 19,425,022 (GRCm39)	Y131C	probably damaging	Het
Or51f23b	C	T	7: 102,402,952 (GRCm39)	M61I	probably benign	Het
Or51m1	T	C	7: 103,578,075 (GRCm39)	L15P	probably damaging	Het
Or5ar1	A	G	2: 85,671,383 (GRCm39)	F251L	probably benign	Het
Or9e1	A	G	11: 58,732,326 (GRCm39)	I129V	probably benign	Het
Pclo	T	C	5: 14,729,050 (GRCm39)	L2636P	unknown	Het
Pfkm	G	A	15: 98,019,191 (GRCm39)	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,839,346 (GRCm39)	A169T	probably benign	Het
R3hdml	T	A	2: 163,337,688 (GRCm39)	M114K	probably damaging	Het
Robo1	C	A	16: 72,821,189 (GRCm39)	R1310S	probably benign	Het
Scnm1	A	T	3: 95,040,186 (GRCm39)	N115K	probably benign	Het
Sfn	A	G	4: 133,328,548 (GRCm39)	V178A	probably damaging	Het
Shank2	C	T	7: 143,645,516 (GRCm39)	T366I	possibly damaging	Het
Siah1a	T	C	8: 87,451,953 (GRCm39)	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,148,624 (GRCm39)	I286S	possibly damaging	Het
Spata31d1c	T	A	13: 65,183,654 (GRCm39)	S399T	probably benign	Het
Specc1	A	G	11: 62,102,506 (GRCm39)	S942G	possibly damaging	Het
Syt13	T	C	2: 92,773,478 (GRCm39)	F164S	probably benign	Het
Topbp1	A	T	9: 103,209,905 (GRCm39)	T851S	probably benign	Het
Ttn	A	T	2: 76,800,015 (GRCm39)	S398T	unknown	Het
Vmn1r12	T	C	6: 57,136,521 (GRCm39)	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,640,221 (GRCm39)	W266*	probably null	Het
Vmn2r68	T	C	7: 84,883,116 (GRCm39)	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,792 (GRCm39)	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,738,557 (GRCm39)	F179V	possibly damaging	Het

Other mutations in Smarce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Smarce1	APN	11	99,101,013 (GRCm39)	missense	possibly damaging	0.69
IGL01477:Smarce1	APN	11	99,101,013 (GRCm39)	missense	possibly damaging	0.69
IGL02256:Smarce1	APN	11	99,110,206 (GRCm39)	missense	possibly damaging	0.63
R0524:Smarce1	UTSW	11	99,104,888 (GRCm39)	missense	probably damaging	1.00
R4721:Smarce1	UTSW	11	99,111,543 (GRCm39)	missense	probably benign	0.01
R4953:Smarce1	UTSW	11	99,105,977 (GRCm39)	missense	probably benign	0.45
R5002:Smarce1	UTSW	11	99,115,889 (GRCm39)	missense	probably damaging	0.99
R8007:Smarce1	UTSW	11	99,115,876 (GRCm39)	missense	possibly damaging	0.95
R8670:Smarce1	UTSW	11	99,101,098 (GRCm39)	missense	possibly damaging	0.61
R8977:Smarce1	UTSW	11	99,110,511 (GRCm39)	missense	possibly damaging	0.56
R9519:Smarce1	UTSW	11	99,104,933 (GRCm39)	missense	probably benign	0.01
Z1176:Smarce1	UTSW	11	99,100,921 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCTGGAAGCTCACAGTATG -3'
(R):5'- GTGTTAATACGAGACTAATGCCCTAGC -3'

Sequencing Primer
(F):5'- TTTGGCTCAGGTAGGATGAAAG -3'
(R):5'- GCAGGACCATTGGTAGTT -3'

Posted On

2019-10-24