Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:Smarcd2'

572893

Institutional Source

Beutler Lab

Gene Symbol

Smarcd2

Ensembl Gene

ENSMUSG00000078619

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

Synonyms

Baf60b

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106154005-106163798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106155602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 405 (C405R)

Ref Sequence

ENSEMBL: ENSMUSP00000021052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]

AlphaFold

Q99JR8

Predicted Effect

probably benign
Transcript: ENSMUST00000021049

SMART Domains

Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000021052
AA Change: C405R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
AA Change: C405R

Domain	Start	End	E-Value	Type
low complexity region	5	42	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	122	131	N/A	INTRINSIC
Blast:KISc	136	287	2e-36	BLAST
SWIB	307	386	1.3e-21	SMART
Blast:MYSc	468	514	5e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000106843
AA Change: C358R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
AA Change: C358R

Domain	Start	End	E-Value	Type
low complexity region	75	84	N/A	INTRINSIC
Blast:KISc	89	240	1e-36	BLAST
SWIB	260	339	1.3e-21	SMART
Blast:MYSc	421	467	5e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000133131

SMART Domains

Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140255
AA Change: C127R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619
AA Change: C127R

Domain	Start	End	E-Value	Type
SWIB	29	108	1.3e-21	SMART
Blast:MYSc	190	236	6e-12	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
BC049715	T	A	6: 136,817,453 (GRCm39)	I231N	probably damaging	Het
Bckdhb	T	G	9: 83,835,766 (GRCm39)	V90G	possibly damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,464,793 (GRCm39)	N255K	unknown	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or14c39	A	T	7: 86,343,960 (GRCm39)	I99F	probably damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Ppl	G	T	16: 4,915,835 (GRCm39)	P576Q	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	possibly damaging	Het

Other mutations in Smarcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Smarcd2	APN	11	106,156,730 (GRCm39)	missense	probably damaging	1.00
IGL01880:Smarcd2	APN	11	106,157,503 (GRCm39)	missense	probably damaging	1.00
R0357:Smarcd2	UTSW	11	106,158,158 (GRCm39)	critical splice donor site	probably null
R0626:Smarcd2	UTSW	11	106,158,241 (GRCm39)	missense	probably benign	0.10
R1524:Smarcd2	UTSW	11	106,157,978 (GRCm39)	missense	probably benign	0.01
R1822:Smarcd2	UTSW	11	106,158,222 (GRCm39)	missense	probably benign	0.00
R2072:Smarcd2	UTSW	11	106,156,133 (GRCm39)	nonsense	probably null
R2074:Smarcd2	UTSW	11	106,156,133 (GRCm39)	nonsense	probably null
R2359:Smarcd2	UTSW	11	106,157,990 (GRCm39)	missense	probably benign	0.01
R3960:Smarcd2	UTSW	11	106,157,401 (GRCm39)	missense	probably damaging	1.00
R4211:Smarcd2	UTSW	11	106,157,731 (GRCm39)	nonsense	probably null
R4258:Smarcd2	UTSW	11	106,156,076 (GRCm39)	missense	probably damaging	1.00
R4822:Smarcd2	UTSW	11	106,157,357 (GRCm39)	splice site	probably null
R5174:Smarcd2	UTSW	11	106,157,871 (GRCm39)	unclassified	probably benign
R6035:Smarcd2	UTSW	11	106,157,715 (GRCm39)	critical splice donor site	probably null
R6035:Smarcd2	UTSW	11	106,157,715 (GRCm39)	critical splice donor site	probably null
R7530:Smarcd2	UTSW	11	106,156,587 (GRCm39)	missense	probably damaging	1.00
R7855:Smarcd2	UTSW	11	106,158,392 (GRCm39)	missense	probably benign	0.17
R9469:Smarcd2	UTSW	11	106,163,332 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAATGTGCTCCAGCTCTAGG -3'
(R):5'- CATGAAGCTGGCTGGATTGC -3'

Sequencing Primer
(F):5'- TCCAGCTCTAGGGTCTGAG -3'
(R):5'- CCAGACCCCATTGTTATTAATCATG -3'

Posted On

2019-09-13