Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Smarcd2'

227465

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

040079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106154005-106163798 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 106156133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 42 (L42*)

Ref Sequence

ENSEMBL: ENSMUSP00000133629 (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 null
Transcript: ENSMUST00000021052
AA Change: L320*

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
AA Change: L320*

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: ENSMUST00000083228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106841

Predicted Effect

probably null
Transcript: ENSMUST00000106843
AA Change: L273*

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
AA Change: L273*

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 null
Transcript: ENSMUST00000140255
AA Change: L42*

SMART Domains

Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619
AA Change: L42*

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: ENSMUST00000174253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174017

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,867,449 (GRCm39)	Q484*	probably null	Het
Ackr3	T	C	1: 90,141,703 (GRCm39)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,387,658 (GRCm39)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,794,559 (GRCm39)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,172,887 (GRCm39)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,480,981 (GRCm39)	I176V	probably benign	Het
Arhgap45	A	G	10: 79,863,014 (GRCm39)	Y730C	probably damaging	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Asxl2	A	G	12: 3,543,779 (GRCm39)	E316G	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Calu	A	G	6: 29,372,614 (GRCm39)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,389,098 (GRCm39)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,852,384 (GRCm39)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,243,797 (GRCm39)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dhx33	G	A	11: 70,890,669 (GRCm39)	R177W	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,891,738 (GRCm39)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,496,855 (GRCm39)	I3134V	probably benign	Het
Dock3	A	G	9: 106,870,662 (GRCm39)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,120,606 (GRCm39)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,396,264 (GRCm39)	F392S	probably benign	Het
Eogt	T	C	6: 97,108,337 (GRCm39)	T235A	probably benign	Het
Etv3	T	C	3: 87,443,526 (GRCm39)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,021,555 (GRCm39)	R466H	unknown	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,536,416 (GRCm39)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,895,303 (GRCm39)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,589,941 (GRCm39)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,337,536 (GRCm39)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,501,204 (GRCm39)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,788,733 (GRCm39)	D69G	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mff	T	A	1: 82,729,421 (GRCm39)	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,740 (GRCm39)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,332,271 (GRCm39)	S21N	probably benign	Het
Obscn	G	C	11: 58,960,107 (GRCm39)	I3253M	probably damaging	Het
Obscn	T	C	11: 59,023,478 (GRCm39)	D633G	probably damaging	Het
Olr1	C	T	6: 129,479,057 (GRCm39)	V54I	probably benign	Het
Or10j3b	A	T	1: 173,043,377 (GRCm39)	D53V	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,216,402 (GRCm39)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,147,716 (GRCm39)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,794,099 (GRCm39)	E88G	probably benign	Het
Rpn1	T	A	6: 88,077,944 (GRCm39)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,781,332 (GRCm39)	I165N	probably damaging	Het
Sash1	A	G	10: 8,632,461 (GRCm39)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,371,207 (GRCm39)	N288K	probably benign	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Shank2	C	A	7: 143,963,277 (GRCm39)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,834,663 (GRCm39)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,354,800 (GRCm39)	I143T	probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Spata31g1	A	T	4: 42,974,171 (GRCm39)	D1168V	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	C	10: 23,837,071 (GRCm39)	Q227P	probably benign	Het
Tasor	T	A	14: 27,183,170 (GRCm39)	I543K	probably benign	Het
Tecta	G	T	9: 42,248,575 (GRCm39)	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmem130	T	A	5: 144,692,084 (GRCm39)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,346,195 (GRCm39)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,435,644 (GRCm39)	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,745,461 (GRCm39)		probably null	Het
Trim43a	A	G	9: 88,468,147 (GRCm39)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,855,103 (GRCm39)	T1921A	probably damaging	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,553,316 (GRCm39)	N896T	probably benign	Het
Unc80	G	A	1: 66,718,903 (GRCm39)		probably null	Het
Upb1	A	G	10: 75,260,347 (GRCm39)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,780,180 (GRCm39)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,184,185 (GRCm39)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	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
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'- CAAAGCACTAGGGTTCCAGG -3'
(R):5'- AATGAGGCCACAGGTTTCAG -3'

Sequencing Primer
(F):5'- TAGGGTTCCAGGGCAGCTG -3'
(R):5'- AACTCAGCAGTTCTTAACCTGTGGG -3'

Posted On

2014-09-17