Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Smarcd3'

512845

Institutional Source

Beutler Lab

Gene Symbol

Smarcd3

Ensembl Gene

ENSMUSG00000028949

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3

Synonyms

BAF60C, 1500001J14Rik, 2210409C08Rik

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24590818-24624411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24594984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 263 (F263I)

Ref Sequence

ENSEMBL: ENSMUSP00000030791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030791] [ENSMUST00000088295] [ENSMUST00000121863] [ENSMUST00000195943] [ENSMUST00000197318]

AlphaFold

Q6P9Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030791
AA Change: F263I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949
AA Change: F263I

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
Blast:KISc	103	239	5e-41	BLAST
SWIB	259	338	3.6e-29	SMART
Blast:MYSc	420	466	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000088295

SMART Domains

Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	1.7e-144	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102432

Predicted Effect

probably benign
Transcript: ENSMUST00000121863

SMART Domains

Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	3e-176	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195943
AA Change: F234I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949
AA Change: F234I

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:KISc	74	210	2e-41	BLAST
SWIB	230	309	2.3e-31	SMART
Blast:MYSc	391	437	8e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197933

Predicted Effect

probably benign
Transcript: ENSMUST00000197318

SMART Domains

Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
Pfam:CHGN	1	74	7.5e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

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, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Smarcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Smarcd3	APN	5	24593719	missense	probably damaging	1.00
R0135:Smarcd3	UTSW	5	24595499	unclassified	probably benign
R1614:Smarcd3	UTSW	5	24594876	missense	possibly damaging	0.93
R1617:Smarcd3	UTSW	5	24595194	missense	probably damaging	1.00
R1753:Smarcd3	UTSW	5	24595822	nonsense	probably null
R1879:Smarcd3	UTSW	5	24593021	missense	probably damaging	0.99
R2307:Smarcd3	UTSW	5	24595748	missense	probably damaging	1.00
R3800:Smarcd3	UTSW	5	24593227	nonsense	probably null
R4592:Smarcd3	UTSW	5	24592804	missense	probably benign	0.00
R6388:Smarcd3	UTSW	5	24596026	missense	possibly damaging	0.94
R7077:Smarcd3	UTSW	5	24594962	missense	probably damaging	1.00
R7078:Smarcd3	UTSW	5	24593069	missense	probably damaging	0.98
R7341:Smarcd3	UTSW	5	24595437	missense	possibly damaging	0.95
R7426:Smarcd3	UTSW	5	24595812	missense	probably benign	0.30
R7806:Smarcd3	UTSW	5	24593262	missense	probably benign	0.45
R7935:Smarcd3	UTSW	5	24596026	missense	probably damaging	0.98
R8685:Smarcd3	UTSW	5	24595990	missense	probably damaging	1.00
R8769:Smarcd3	UTSW	5	24598794	missense	probably benign
R8877:Smarcd3	UTSW	5	24593992	missense	possibly damaging	0.93
R8984:Smarcd3	UTSW	5	24593988	missense	probably null	0.99
R9240:Smarcd3	UTSW	5	24596833	missense	probably benign	0.21
RF007:Smarcd3	UTSW	5	24596070	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCTAAGGACATCCGTTACCTG -3'
(R):5'- TGGGTTCCAAGTGAAGAGAC -3'

Sequencing Primer
(F):5'- ACCTGCTGGAAATACTTGTCG -3'
(R):5'- TGCTCCTGATGCTGGACTATCAG -3'

Posted On

2018-04-27