Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Smarcd2'

206499

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

039850-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106154005-106163798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106158222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 113 (D113E)

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 benign
Transcript: ENSMUST00000021052
AA Change: D113E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
AA Change: D113E

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 benign
Transcript: ENSMUST00000106843
AA Change: D66E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
AA Change: D66E

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: ENSMUST00000174253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174017

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,847,901 (GRCm39)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adsl	G	T	15: 80,846,943 (GRCm39)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,583 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,493,850 (GRCm39)	V310A	probably benign	Het
Alpk3	T	A	7: 80,726,679 (GRCm39)	C121*	probably null	Het
Amph	T	A	13: 19,132,625 (GRCm39)	I8N	probably damaging	Het
Ano2	G	A	6: 125,840,420 (GRCm39)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,557,520 (GRCm39)	T314A	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip	A	G	6: 136,564,258 (GRCm39)	T834A	probably benign	Het
Brca2	T	G	5: 150,463,663 (GRCm39)	D1142E	probably benign	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
Cap2	A	G	13: 46,768,823 (GRCm39)	S210G	probably benign	Het
Capn2	C	A	1: 182,300,525 (GRCm39)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,413,648 (GRCm39)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,095,204 (GRCm39)	G622S	probably null	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,023,898 (GRCm39)	M1L	probably benign	Het
Csmd1	T	C	8: 16,273,340 (GRCm39)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,755,003 (GRCm39)		probably benign	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,423,810 (GRCm39)		probably null	Het
Cytip	A	C	2: 58,024,158 (GRCm39)	S221A	probably benign	Het
Dagla	G	A	19: 10,240,550 (GRCm39)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,560,514 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,405,630 (GRCm39)	D627E	probably damaging	Het
Dock8	A	G	19: 25,138,422 (GRCm39)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,475,393 (GRCm39)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm39)		probably null	Het
Fan1	T	C	7: 64,022,554 (GRCm39)	N233S	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,832,765 (GRCm39)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,909,765 (GRCm39)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,318,355 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,841,998 (GRCm39)	N138S	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,273,704 (GRCm39)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,179,712 (GRCm39)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 118,485,488 (GRCm39)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,417,408 (GRCm39)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,539,729 (GRCm39)	D156V	probably damaging	Het
Khnyn	A	T	14: 56,123,309 (GRCm39)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,759,661 (GRCm39)	G1199E	unknown	Het
Lipk	T	C	19: 34,016,491 (GRCm39)	W240R	probably benign	Het
Lpar5	A	G	6: 125,058,378 (GRCm39)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,471,961 (GRCm39)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,624,285 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 65,047,837 (GRCm39)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,142,585 (GRCm39)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,312,919 (GRCm39)		probably benign	Het
Mmp28	A	G	11: 83,335,045 (GRCm39)	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,348,242 (GRCm39)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,702,374 (GRCm39)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,245,898 (GRCm39)	V493E	probably benign	Het
Ntf3	A	C	6: 126,079,209 (GRCm39)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,083,054 (GRCm39)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,091,992 (GRCm39)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,161,066 (GRCm39)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,611,133 (GRCm39)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,507,722 (GRCm39)		probably benign	Het
Or2y1c	T	A	11: 49,361,795 (GRCm39)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,780 (GRCm39)	R233C	probably benign	Het
Otof	G	A	5: 30,536,054 (GRCm39)	T1343I	probably benign	Het
Otop2	A	T	11: 115,215,454 (GRCm39)	Y125F	probably benign	Het
Pate3	G	A	9: 35,557,401 (GRCm39)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Phf11d	T	C	14: 59,593,778 (GRCm39)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,477,130 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,577,469 (GRCm39)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,554,339 (GRCm39)	E129K	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Ralgapb	T	A	2: 158,334,372 (GRCm39)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,747,645 (GRCm39)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,606,282 (GRCm39)	T218S	probably damaging	Het
Scaper	C	T	9: 55,767,184 (GRCm39)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,314,716 (GRCm39)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 34,017,217 (GRCm39)	S268T	probably damaging	Het
Skic3	C	A	13: 76,278,407 (GRCm39)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,648,765 (GRCm39)	W495*	probably null	Het
Slc32a1	A	G	2: 158,453,298 (GRCm39)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,519,405 (GRCm39)		probably benign	Het
Slc6a5	T	A	7: 49,606,173 (GRCm39)	W694R	probably benign	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,469,820 (GRCm39)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,606,539 (GRCm39)	E115D	probably damaging	Het
Sult1c2	A	T	17: 54,280,953 (GRCm39)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Togaram1	T	G	12: 65,042,409 (GRCm39)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,398,854 (GRCm39)	T192A	probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vit	A	C	17: 78,930,265 (GRCm39)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Zfp341	A	G	2: 154,488,054 (GRCm39)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,622,275 (GRCm39)	L631F	probably benign	Het
Zmpste24	T	C	4: 120,944,513 (GRCm39)	E95G	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTAACAGTCCAAACTCACG -3'
(R):5'- GGTCTCCCCATTTGAGAGAG -3'

Sequencing Primer
(F):5'- GTTAACAGTCCAAACTCACGATCTTC -3'
(R):5'- TCTCCCCATTTGAGAGAGAGAGAG -3'

Posted On

2014-06-23