Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Smarcd3'

700673

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

2210409C08Rik, BAF60C, 1500001J14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24797620-24829649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24801831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 103 (M103L)

Ref Sequence

ENSEMBL: ENSMUSP00000030791 (fasta)

Gene Model

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

AlphaFold

Q6P9Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000030791
AA Change: M103L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949
AA Change: M103L

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

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

probably benign
Transcript: ENSMUST00000195943
AA Change: M74L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949
AA Change: M74L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

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, 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,966,406 (GRCm39)	I187V	probably benign	Het
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Arsg	T	A	11: 109,463,093 (GRCm39)	V451E	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,311,506 (GRCm39)	N428D	possibly damaging	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Cstf1	C	A	2: 172,217,669 (GRCm39)	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mat1a	G	A	14: 40,827,573 (GRCm39)	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	probably benign	Het

Other mutations in Smarcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Smarcd3	APN	5	24,798,717 (GRCm39)	missense	probably damaging	1.00
R0135:Smarcd3	UTSW	5	24,800,497 (GRCm39)	unclassified	probably benign
R1614:Smarcd3	UTSW	5	24,799,874 (GRCm39)	missense	possibly damaging	0.93
R1617:Smarcd3	UTSW	5	24,800,192 (GRCm39)	missense	probably damaging	1.00
R1753:Smarcd3	UTSW	5	24,800,820 (GRCm39)	nonsense	probably null
R1879:Smarcd3	UTSW	5	24,798,019 (GRCm39)	missense	probably damaging	0.99
R2307:Smarcd3	UTSW	5	24,800,746 (GRCm39)	missense	probably damaging	1.00
R3800:Smarcd3	UTSW	5	24,798,225 (GRCm39)	nonsense	probably null
R4592:Smarcd3	UTSW	5	24,797,802 (GRCm39)	missense	probably benign	0.00
R6369:Smarcd3	UTSW	5	24,799,982 (GRCm39)	missense	probably damaging	0.99
R6388:Smarcd3	UTSW	5	24,801,024 (GRCm39)	missense	possibly damaging	0.94
R7077:Smarcd3	UTSW	5	24,799,960 (GRCm39)	missense	probably damaging	1.00
R7078:Smarcd3	UTSW	5	24,798,067 (GRCm39)	missense	probably damaging	0.98
R7341:Smarcd3	UTSW	5	24,800,435 (GRCm39)	missense	possibly damaging	0.95
R7426:Smarcd3	UTSW	5	24,800,810 (GRCm39)	missense	probably benign	0.30
R7806:Smarcd3	UTSW	5	24,798,260 (GRCm39)	missense	probably benign	0.45
R7935:Smarcd3	UTSW	5	24,801,024 (GRCm39)	missense	probably damaging	0.98
R8685:Smarcd3	UTSW	5	24,800,988 (GRCm39)	missense	probably damaging	1.00
R8769:Smarcd3	UTSW	5	24,803,792 (GRCm39)	missense	probably benign
R8877:Smarcd3	UTSW	5	24,798,990 (GRCm39)	missense	possibly damaging	0.93
R8984:Smarcd3	UTSW	5	24,798,986 (GRCm39)	missense	probably null	0.99
RF007:Smarcd3	UTSW	5	24,801,068 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTCAGGCCTTGTGATCTG -3'
(R):5'- AGGGAAGTACCAGCTCCATG -3'

Sequencing Primer
(F):5'- TCTCGAAAAGGGAGCCTCACTTC -3'
(R):5'- TCCATGGCCCTGCTGTAG -3'

Posted On

2022-02-07