Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Smarca5'

546049

Institutional Source

Beutler Lab

Gene Symbol

Smarca5

Ensembl Gene

ENSMUSG00000031715

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

Synonyms

D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h

MMRRC Submission

045128-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80698507-80739497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80736726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 71 (E71G)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043359]

AlphaFold

Q91ZW3

Predicted Effect

probably benign
Transcript: ENSMUST00000043359
AA Change: E71G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: E71G

Domain	Start	End	E-Value	Type
low complexity region	2	53	N/A	INTRINSIC
Pfam:DBINO	65	112	1.1e-4	PFAM
low complexity region	145	156	N/A	INTRINSIC
DEXDc	175	367	3.9e-46	SMART
Blast:DEXDc	386	421	6e-11	BLAST
HELICc	512	596	6.2e-28	SMART
low complexity region	756	768	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
SANT	840	889	2.3e-7	SMART
SANT	942	1006	3e-7	SMART
low complexity region	1008	1024	N/A	INTRINSIC

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	G	2: 85,485,527 (GRCm38)	Y440H	probably damaging	Het
Acoxl	A	T	2: 128,010,083 (GRCm38)	M102L	probably benign	Het
Adcy10	A	G	1: 165,518,246 (GRCm38)	E288G	probably damaging	Het
Agap1	A	G	1: 89,888,722 (GRCm38)	H748R	probably benign	Het
Ahsg	T	C	16: 22,892,257 (GRCm38)	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,612,526 (GRCm38)	T394A	probably benign	Het
Apc	T	G	18: 34,312,076 (GRCm38)	V657G	probably damaging	Het
Arl2	T	C	19: 6,141,089 (GRCm38)	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,801,450 (GRCm38)	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,769,990 (GRCm38)	S320T	probably damaging	Het
Bach1	G	A	16: 87,719,291 (GRCm38)	R240Q	probably benign	Het
BC107364	T	G	3: 96,440,741 (GRCm38)	R77S	unknown	Het
Brox	G	A	1: 183,284,186 (GRCm38)	P206L	possibly damaging	Het
Ccrl2	T	C	9: 111,055,885 (GRCm38)	K182E	probably benign	Het
Cd19	A	G	7: 126,410,499 (GRCm38)	V465A	possibly damaging	Het
Chrdl2	A	T	7: 100,022,033 (GRCm38)	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063 (GRCm38)	P376S	probably benign	Het
Cobll1	A	G	2: 65,089,503 (GRCm38)	S1194P	probably benign	Het
Col6a4	T	C	9: 106,067,014 (GRCm38)	Y1087C	probably damaging	Het
Col9a2	G	A	4: 121,044,019 (GRCm38)		probably null	Het
Cyp4v3	A	G	8: 45,310,252 (GRCm38)	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,631,506 (GRCm38)	Y529F	probably benign	Het
Eif3b	C	T	5: 140,425,288 (GRCm38)	R165W	probably damaging	Het
Erlec1	C	A	11: 30,950,790 (GRCm38)	C126F	probably damaging	Het
Fat2	G	A	11: 55,281,851 (GRCm38)	R2679*	probably null	Het
Fat2	T	C	11: 55,269,433 (GRCm38)	T3285A	probably benign	Het
Fbxo31	T	C	8: 121,578,485 (GRCm38)	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,412,063 (GRCm38)	Y243H	probably damaging	Het
Flcn	C	T	11: 59,795,806 (GRCm38)	V374M	probably damaging	Het
Fndc5	A	G	4: 129,139,523 (GRCm38)	M128V	probably benign	Het
Gal3st1	A	G	11: 3,999,002 (GRCm38)	D403G	probably damaging	Het
Garem1	T	C	18: 21,129,994 (GRCm38)	N588D	probably benign	Het
Gas1	T	C	13: 60,176,233 (GRCm38)	T196A	probably damaging	Het
Gcn1l1	T	C	5: 115,616,546 (GRCm38)		probably null	Het
Gprc5d	T	G	6: 135,116,648 (GRCm38)	Q87P	probably damaging	Het
Grm1	A	G	10: 10,719,595 (GRCm38)	L763P	probably damaging	Het
Hivep2	G	T	10: 14,149,577 (GRCm38)	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,149,578 (GRCm38)	D2379Y	probably damaging	Het
Itgad	A	G	7: 128,182,989 (GRCm38)	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,906,485 (GRCm38)	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,414,916 (GRCm38)	S128G	probably benign	Het
Map3k9	T	C	12: 81,730,624 (GRCm38)	T528A	probably benign	Het
Mmp11	G	A	10: 75,932,396 (GRCm38)		probably benign	Het
Mycbpap	T	A	11: 94,514,614 (GRCm38)	I30F	probably damaging	Het
Nfya	T	C	17: 48,389,312 (GRCm38)	T335A	probably benign	Het
Npat	T	A	9: 53,569,916 (GRCm38)	S1008T	possibly damaging	Het
Olfr1145	A	G	2: 87,810,716 (GRCm38)	T299A	possibly damaging	Het
Olfr121	G	A	17: 37,752,409 (GRCm38)	C185Y	probably damaging	Het
Olfr494	A	T	7: 108,368,350 (GRCm38)	M287L	probably damaging	Het
Olfr818	C	T	10: 129,945,172 (GRCm38)	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,223,698 (GRCm38)	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,111 (GRCm38)	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,721,362 (GRCm38)	D270G	probably damaging	Het
Pde2a	A	C	7: 101,511,597 (GRCm38)	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,113,974 (GRCm38)	D873G	probably benign	Het
Pno1	A	T	11: 17,208,880 (GRCm38)	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,354,736 (GRCm38)	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,181,413 (GRCm38)		probably benign	Het
Psma5	A	G	3: 108,265,168 (GRCm38)	I67V	probably benign	Het
Reep6	G	A	10: 80,333,965 (GRCm38)		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,591,414 (GRCm38)		probably benign	Het
Scyl2	C	G	10: 89,645,461 (GRCm38)		probably null	Het
Sdk1	T	A	5: 142,096,726 (GRCm38)		probably null	Het
Senp5	C	A	16: 31,989,295 (GRCm38)	K380N	probably benign	Het
Slc22a14	A	T	9: 119,231,215 (GRCm38)		probably null	Het
Slc26a5	T	A	5: 21,816,974 (GRCm38)	T485S	possibly damaging	Het
Slc44a5	T	C	3: 154,253,719 (GRCm38)	I349T	probably benign	Het
Smok2a	A	T	17: 13,225,779 (GRCm38)	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,217,272 (GRCm38)	D388G	probably benign	Het
Tank	T	C	2: 61,653,422 (GRCm38)	V404A	probably benign	Het
Tek	A	G	4: 94,865,510 (GRCm38)	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,733,674 (GRCm38)	C16Y	probably benign	Het
Tmc1	A	G	19: 20,940,903 (GRCm38)		probably null	Het
Tnc	A	G	4: 63,984,589 (GRCm38)	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,685,132 (GRCm38)		probably null	Het
Tnrc6c	T	A	11: 117,733,618 (GRCm38)	S919T	probably damaging	Het
Trim17	C	A	11: 58,968,616 (GRCm38)	Q219K	probably benign	Het
Trim5	T	A	7: 104,265,668 (GRCm38)	H389L	probably benign	Het
Trio	T	A	15: 27,805,654 (GRCm38)	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,035,801 (GRCm38)	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,362,244 (GRCm38)	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,404,490 (GRCm38)	Y9*	probably null	Het
Vmn2r50	T	A	7: 10,047,612 (GRCm38)	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,313,286 (GRCm38)	A484E	probably benign	Het
Vps13a	T	C	19: 16,664,664 (GRCm38)	T2200A	probably benign	Het
Wdr36	T	A	18: 32,841,905 (GRCm38)	H103Q	probably benign	Het
Zfp534	G	A	4: 147,675,210 (GRCm38)	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,770,372 (GRCm38)	S897N	probably benign	Het

Other mutations in Smarca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Smarca5	APN	8	80,714,041 (GRCm38)	missense	probably benign	0.10
IGL01138:Smarca5	APN	8	80,701,076 (GRCm38)	missense	possibly damaging	0.87
IGL01290:Smarca5	APN	8	80,727,648 (GRCm38)	missense	probably benign
IGL02338:Smarca5	APN	8	80,719,570 (GRCm38)	splice site	probably benign
IGL03212:Smarca5	APN	8	80,711,781 (GRCm38)	missense	possibly damaging	0.47
IGL03216:Smarca5	APN	8	80,719,658 (GRCm38)	missense	probably damaging	1.00
Cipher	UTSW	8	80,719,652 (GRCm38)	missense	probably damaging	1.00
Codebook	UTSW	8	80,733,707 (GRCm38)	missense	probably benign
Codex	UTSW	8	80,710,563 (GRCm38)	missense	probably damaging	0.99
Encryption	UTSW	8	80,704,726 (GRCm38)	missense	probably damaging	1.00
Enigma	UTSW	8	80,705,332 (GRCm38)	missense	probably benign	0.35
Key	UTSW	8	80,726,051 (GRCm38)	missense	probably damaging	1.00
Sailor	UTSW	8	80,736,726 (GRCm38)	missense	probably benign	0.07
Soldier	UTSW	8	80,719,715 (GRCm38)	missense	probably damaging	1.00
tinker	UTSW	8	80,733,750 (GRCm38)	missense	probably benign
R0254:Smarca5	UTSW	8	80,704,700 (GRCm38)	missense	probably benign	0.05
R0374:Smarca5	UTSW	8	80,736,731 (GRCm38)	missense	probably benign	0.30
R0625:Smarca5	UTSW	8	80,720,686 (GRCm38)	critical splice donor site	probably null
R1065:Smarca5	UTSW	8	80,704,714 (GRCm38)	missense	probably damaging	1.00
R1164:Smarca5	UTSW	8	80,710,631 (GRCm38)	missense	probably damaging	1.00
R1709:Smarca5	UTSW	8	80,709,220 (GRCm38)	nonsense	probably null
R2102:Smarca5	UTSW	8	80,704,675 (GRCm38)	missense	probably damaging	1.00
R3831:Smarca5	UTSW	8	80,728,494 (GRCm38)	missense	probably damaging	0.99
R4625:Smarca5	UTSW	8	80,710,563 (GRCm38)	missense	probably damaging	0.99
R4750:Smarca5	UTSW	8	80,733,707 (GRCm38)	missense	probably benign
R4822:Smarca5	UTSW	8	80,708,680 (GRCm38)	splice site	probably null
R4889:Smarca5	UTSW	8	80,704,697 (GRCm38)	missense	possibly damaging	0.95
R5756:Smarca5	UTSW	8	80,710,604 (GRCm38)	missense	probably benign
R6120:Smarca5	UTSW	8	80,711,743 (GRCm38)	missense	probably damaging	0.98
R6582:Smarca5	UTSW	8	80,719,652 (GRCm38)	missense	probably damaging	1.00
R6939:Smarca5	UTSW	8	80,705,320 (GRCm38)	missense	possibly damaging	0.63
R6972:Smarca5	UTSW	8	80,704,751 (GRCm38)	missense	probably damaging	1.00
R6973:Smarca5	UTSW	8	80,704,751 (GRCm38)	missense	probably damaging	1.00
R7376:Smarca5	UTSW	8	80,726,051 (GRCm38)	missense	probably damaging	1.00
R7514:Smarca5	UTSW	8	80,717,534 (GRCm38)	missense	probably damaging	1.00
R7962:Smarca5	UTSW	8	80,736,759 (GRCm38)	missense	probably benign
R8031:Smarca5	UTSW	8	80,704,682 (GRCm38)	missense	probably damaging	1.00
R8400:Smarca5	UTSW	8	80,709,127 (GRCm38)	missense	probably benign	0.02
R8798:Smarca5	UTSW	8	80,716,508 (GRCm38)	missense	probably damaging	1.00
R8817:Smarca5	UTSW	8	80,733,750 (GRCm38)	missense	probably benign
R8824:Smarca5	UTSW	8	80,705,332 (GRCm38)	missense	probably benign	0.35
R8905:Smarca5	UTSW	8	80,713,948 (GRCm38)	missense	probably benign	0.14
R9018:Smarca5	UTSW	8	80,704,726 (GRCm38)	missense	probably damaging	1.00
R9028:Smarca5	UTSW	8	80,714,013 (GRCm38)	missense	probably damaging	1.00
R9203:Smarca5	UTSW	8	80,704,629 (GRCm38)	nonsense	probably null
R9253:Smarca5	UTSW	8	80,719,715 (GRCm38)	missense	probably damaging	1.00
R9294:Smarca5	UTSW	8	80,719,803 (GRCm38)	missense	probably damaging	1.00
R9328:Smarca5	UTSW	8	80,720,749 (GRCm38)	missense	probably benign	0.00
R9396:Smarca5	UTSW	8	80,736,729 (GRCm38)	missense	probably benign	0.00
R9514:Smarca5	UTSW	8	80,702,211 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCTTCAGTTGTCTCTGATGAAGC -3'
(R):5'- ATCAGGTTTCATGTCAGGTTATCTG -3'

Sequencing Primer
(F):5'- CAGTTGTCTCTGATGAAGCTTATAC -3'
(R):5'- GATAGCCATTAAATATCTTGGGACGG -3'

Posted On

2019-05-13