Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01880:Smarcd2'

179014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarcd2

Ensembl Gene

ENSMUSG00000078619

Gene Name

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

Synonyms

Baf60b

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01880

Quality Score

Status

Chromosome

Chromosomal Location

106154005-106163798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106157503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 148 (R148W)

Ref Sequence

ENSEMBL: ENSMUSP00000102456 (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: R195W

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

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
AA Change: R195W

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

noncoding transcript
Transcript: ENSMUST00000106841

Predicted Effect

probably damaging
Transcript: ENSMUST00000106843
AA Change: R148W

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

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
AA Change: R148W

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

noncoding transcript
Transcript: ENSMUST00000132278

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 benign
Transcript: ENSMUST00000140255

SMART Domains

Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174253

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,184,089 (GRCm39)	T1003A	probably benign	Het
Capn8	T	C	1: 182,425,141 (GRCm39)	F143S	probably damaging	Het
Dnaaf2	A	T	12: 69,236,811 (GRCm39)	L766I	probably benign	Het
Gle1	T	A	2: 29,833,762 (GRCm39)	S386R	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Klrb1	A	T	6: 128,689,282 (GRCm39)	V63E	possibly damaging	Het
Mettl1	A	G	10: 126,880,492 (GRCm39)	H138R	probably damaging	Het
Or7c19	A	G	8: 85,957,712 (GRCm39)	N196S	probably benign	Het
Or8g2	T	A	9: 39,821,237 (GRCm39)	I46N	possibly damaging	Het
Phf8-ps	C	A	17: 33,285,690 (GRCm39)	V371L	probably damaging	Het
Ppp1r12b	A	G	1: 134,814,159 (GRCm39)		probably null	Het
Shtn1	A	C	19: 59,063,881 (GRCm39)		probably benign	Het
Slc22a15	T	C	3: 101,768,164 (GRCm39)	R503G	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Ssc5d	T	A	7: 4,936,218 (GRCm39)	V488E	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r57	A	G	7: 41,049,619 (GRCm39)	I710T	possibly damaging	Het
Vps41	T	G	13: 18,994,641 (GRCm39)	S163A	probably benign	Het
Zc3h6	C	T	2: 128,859,298 (GRCm39)	L1110F	probably 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
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
R7383:Smarcd2	UTSW	11	106,155,602 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07