Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Smarca5'

100828

Institutional Source

Beutler Lab

Gene Symbol

Smarca5

Ensembl Gene

ENSMUSG00000031715

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

Synonyms

D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80698507-80739497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80710631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 699 (L699F)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043359]

AlphaFold

Q91ZW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000043359
AA Change: L699F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: L699F

Domain	Start	End	E-Value	Type
low complexity region	2	53	N/A	INTRINSIC
Pfam:DBINO	65	112	1.1e-4	PFAM
low complexity region	145	156	N/A	INTRINSIC
DEXDc	175	367	3.9e-46	SMART
Blast:DEXDc	386	421	6e-11	BLAST
HELICc	512	596	6.2e-28	SMART
low complexity region	756	768	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
SANT	840	889	2.3e-7	SMART
SANT	942	1006	3e-7	SMART
low complexity region	1008	1024	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150277

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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 a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,331	M1055K	probably damaging	Het
Adprh	A	T	16: 38,450,340	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,617,946	M80L	probably benign	Het
Arap2	T	A	5: 62,683,477	D682V	probably damaging	Het
Atp4a	T	A	7: 30,717,692	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,308,316	E10G	probably damaging	Het
B4galt2	G	A	4: 117,876,944	R299W	possibly damaging	Het
Brinp1	A	C	4: 68,798,691	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,361,876		probably null	Het
Ccdc3	T	C	2: 5,141,266	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 50,792,137	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,962,688	W191R	probably damaging	Het
Chga	A	G	12: 102,563,045	E427G	probably damaging	Het
Chrnd	A	T	1: 87,192,545	Y32F	probably benign	Het
Cks1b	C	A	3: 89,415,942		probably benign	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dip2a	C	A	10: 76,276,397	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,918,258	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,677,993	M319V	possibly damaging	Het
Dock8	A	G	19: 25,090,027	Y345C	probably benign	Het
Dpp6	A	G	5: 27,721,105	T668A	probably benign	Het
Eef1d	A	G	15: 75,902,677		probably null	Het
Epb41l3	A	G	17: 69,274,767	T568A	possibly damaging	Het
Erc2	A	G	14: 28,302,972	R603G	probably damaging	Het
Fam83d	T	C	2: 158,783,250	S254P	probably damaging	Het
Fcgr4	A	T	1: 171,029,170	H202L	possibly damaging	Het
Gm38394	G	A	1: 133,659,203	T132I	probably damaging	Het
Gm4922	C	T	10: 18,783,721	A418T	possibly damaging	Het
Kmo	A	G	1: 175,658,559	H416R	probably benign	Het
Lao1	A	G	4: 118,965,405	N174S	probably benign	Het
Lrwd1	A	T	5: 136,130,990	H406Q	probably benign	Het
Magoh	A	G	4: 107,887,262	I143V	probably benign	Het
Mpz	A	G	1: 171,158,439	H49R	possibly damaging	Het
Nav1	T	C	1: 135,472,410	N474S	probably benign	Het
Ndufb10	T	G	17: 24,722,783	E68D	probably benign	Het
Obscn	T	C	11: 59,036,087	D5534G	possibly damaging	Het
Olfr1076	C	A	2: 86,508,684	T75K	probably damaging	Het
Olfr126	T	A	17: 37,850,684	F31I	probably damaging	Het
Olfr1425	A	T	19: 12,074,241	Y130*	probably null	Het
Olfr159	T	C	4: 43,770,991	T7A	probably benign	Het
Olfr345	A	T	2: 36,640,120	Y27F	probably benign	Het
Olfr685	A	T	7: 105,180,833	F160Y	probably benign	Het
Padi1	A	T	4: 140,832,329	V79E	possibly damaging	Het
Pdha2	A	G	3: 141,211,499	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,574,715	I42T	probably damaging	Het
Pot1b	A	C	17: 55,674,085	S310A	probably benign	Het
Ptpn13	G	A	5: 103,489,773	V176I	probably damaging	Het
Ptprf	A	G	4: 118,257,492	S189P	probably damaging	Het
Rere	A	T	4: 150,534,884	Q381L	unknown	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Scn8a	G	A	15: 101,040,162	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,678,314	D307N	probably benign	Het
Siah2	T	C	3: 58,676,316	E183G	probably benign	Het
Smo	T	A	6: 29,754,719	S263T	probably benign	Het
Sox2	A	G	3: 34,650,699	E95G	probably damaging	Het
T	T	C	17: 8,439,939	S171P	probably benign	Het
Tmc7	G	T	7: 118,542,024	A628D	probably benign	Het
Tmem45a2	A	G	16: 57,049,426	S52P	probably damaging	Het
Tubb3	C	T	8: 123,421,447	A373V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,895,380		probably null	Het
Upp2	A	G	2: 58,763,704	Y69C	probably damaging	Het
Utp4	A	G	8: 106,900,844		probably null	Het
Vmn1r59	T	A	7: 5,454,411	M117L	probably benign	Het
Xkr8	T	C	4: 132,732,411	S19G	probably benign	Het
Zbtb24	T	C	10: 41,464,527	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,971,624	I580T	probably benign	Het
Zfp995	G	A	17: 21,879,979	H425Y	probably damaging	Het

Other mutations in Smarca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Smarca5	APN	8	80714041	missense	probably benign	0.10
IGL01138:Smarca5	APN	8	80701076	missense	possibly damaging	0.87
IGL01290:Smarca5	APN	8	80727648	missense	probably benign
IGL02338:Smarca5	APN	8	80719570	splice site	probably benign
IGL03212:Smarca5	APN	8	80711781	missense	possibly damaging	0.47
IGL03216:Smarca5	APN	8	80719658	missense	probably damaging	1.00
Cipher	UTSW	8	80719652	missense	probably damaging	1.00
Codebook	UTSW	8	80733707	missense	probably benign
Codex	UTSW	8	80710563	missense	probably damaging	0.99
Encryption	UTSW	8	80704726	missense	probably damaging	1.00
Enigma	UTSW	8	80705332	missense	probably benign	0.35
Key	UTSW	8	80726051	missense	probably damaging	1.00
Sailor	UTSW	8	80736726	missense	probably benign	0.07
Soldier	UTSW	8	80719715	missense	probably damaging	1.00
tinker	UTSW	8	80733750	missense	probably benign
R0254:Smarca5	UTSW	8	80704700	missense	probably benign	0.05
R0374:Smarca5	UTSW	8	80736731	missense	probably benign	0.30
R0625:Smarca5	UTSW	8	80720686	critical splice donor site	probably null
R1065:Smarca5	UTSW	8	80704714	missense	probably damaging	1.00
R1709:Smarca5	UTSW	8	80709220	nonsense	probably null
R2102:Smarca5	UTSW	8	80704675	missense	probably damaging	1.00
R3831:Smarca5	UTSW	8	80728494	missense	probably damaging	0.99
R4625:Smarca5	UTSW	8	80710563	missense	probably damaging	0.99
R4750:Smarca5	UTSW	8	80733707	missense	probably benign
R4822:Smarca5	UTSW	8	80708680	splice site	probably null
R4889:Smarca5	UTSW	8	80704697	missense	possibly damaging	0.95
R5756:Smarca5	UTSW	8	80710604	missense	probably benign
R6120:Smarca5	UTSW	8	80711743	missense	probably damaging	0.98
R6582:Smarca5	UTSW	8	80719652	missense	probably damaging	1.00
R6939:Smarca5	UTSW	8	80705320	missense	possibly damaging	0.63
R6972:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R6973:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R7027:Smarca5	UTSW	8	80736726	missense	probably benign	0.07
R7376:Smarca5	UTSW	8	80726051	missense	probably damaging	1.00
R7514:Smarca5	UTSW	8	80717534	missense	probably damaging	1.00
R7962:Smarca5	UTSW	8	80736759	missense	probably benign
R8031:Smarca5	UTSW	8	80704682	missense	probably damaging	1.00
R8400:Smarca5	UTSW	8	80709127	missense	probably benign	0.02
R8798:Smarca5	UTSW	8	80716508	missense	probably damaging	1.00
R8817:Smarca5	UTSW	8	80733750	missense	probably benign
R8824:Smarca5	UTSW	8	80705332	missense	probably benign	0.35
R8905:Smarca5	UTSW	8	80713948	missense	probably benign	0.14
R9018:Smarca5	UTSW	8	80704726	missense	probably damaging	1.00
R9028:Smarca5	UTSW	8	80714013	missense	probably damaging	1.00
R9203:Smarca5	UTSW	8	80704629	nonsense	probably null
R9253:Smarca5	UTSW	8	80719715	missense	probably damaging	1.00
R9294:Smarca5	UTSW	8	80719803	missense	probably damaging	1.00
R9328:Smarca5	UTSW	8	80720749	missense	probably benign	0.00
R9396:Smarca5	UTSW	8	80736729	missense	probably benign	0.00
R9514:Smarca5	UTSW	8	80702211	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15