Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Smarca5'

672810

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

068727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80698507-80739497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80733750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 119 (M119K)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

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

AlphaFold

Q91ZW3

Predicted Effect

probably benign
Transcript: ENSMUST00000043359
AA Change: M119K

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

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: M119K

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

0.0682

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,276,998	Y320H	probably benign	Het
Aass	A	T	6: 23,097,196	Y41*	probably null	Het
AI429214	G	A	8: 36,994,114	V139I	probably benign	Het
Cacna1a	G	A	8: 84,638,797	A2190T	probably benign	Het
Cutc	T	C	19: 43,755,674	V38A	probably benign	Het
Cxcl10	G	T	5: 92,347,371	P98H	probably damaging	Het
Dopey1	T	C	9: 86,513,950	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,624,287	L117P	probably damaging	Het
Emc3	A	G	6: 113,515,907	F261S	probably damaging	Het
Ephx2	T	C	14: 66,107,276	T200A	probably benign	Het
Eri1	A	C	8: 35,478,638	D164E	probably damaging	Het
Ethe1	T	C	7: 24,606,302	I158T	probably damaging	Het
Fancm	C	T	12: 65,120,557	R1547C	probably damaging	Het
Fer1l4	T	A	2: 156,048,223	T261S	probably damaging	Het
Fyb2	A	G	4: 104,945,455	R185G	probably benign	Het
Gabrp	A	T	11: 33,554,464	S284T	possibly damaging	Het
Gga2	G	A	7: 121,991,622	R488*	probably null	Het
Gm14085	A	T	2: 122,518,507	T305S	possibly damaging	Het
Gm436	A	G	4: 144,673,791	V139A	probably benign	Het
Gm9758	A	G	5: 14,912,216	L126S	probably damaging	Het
Gse1	T	C	8: 120,567,803	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,770,085	S2P	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Huwe1	A	G	X: 151,886,997	K1482R	probably benign	Het
Lama2	A	T	10: 27,187,873	W1307R	probably damaging	Het
Map3k6	A	G	4: 133,246,760	K517E	probably benign	Het
Mbl1	T	A	14: 41,153,598	L3Q	unknown	Het
Mepe	G	T	5: 104,337,285	R97L	probably benign	Het
Minpp1	T	A	19: 32,486,347	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,447,322	I281F	probably benign	Het
Naip5	T	C	13: 100,212,699	I1374V	probably benign	Het
Olfr1259	A	G	2: 89,943,446	L223S	probably damaging	Het
Olfr603	A	T	7: 103,383,618	I128N	probably damaging	Het
Olfr761	A	G	17: 37,952,382	I214T	probably damaging	Het
Olfr954	C	T	9: 39,462,091	S217F	probably damaging	Het
Olfr970	G	T	9: 39,819,643	M1I	probably null	Het
Pamr1	T	G	2: 102,634,421	V305G	probably benign	Het
Pcbp3	T	C	10: 76,789,836	T125A	probably benign	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 72,051,068	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,818,573	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,333,509		probably benign	Het
Prpf40a	T	C	2: 53,152,959	K480E	probably damaging	Het
Psd3	A	G	8: 67,960,483	I465T	possibly damaging	Het
Pskh1	C	T	8: 105,929,720	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,372	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,670,351	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,024		probably benign	Het
Recql	G	A	6: 142,358,886		probably benign	Het
Rnf40	T	C	7: 127,597,160	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,030,636	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,140,599	V468A	probably benign	Het
Ryr2	T	A	13: 11,735,623	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,593,638	G9D	unknown	Het
Slc40a1	A	C	1: 45,909,539	V527G	probably damaging	Het
Smarca4	T	A	9: 21,636,201	M260K	probably benign	Het
Smg1	A	G	7: 118,159,664	V2206A	unknown	Het
Sp4	A	T	12: 118,261,889	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,034,562	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Srcap	T	C	7: 127,553,223	S2220P	probably benign	Het
Stra6	G	T	9: 58,151,982	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,874,128	F1626I	probably benign	Het
Tjp1	T	C	7: 65,303,062	N1508S	probably benign	Het
Trrap	T	A	5: 144,845,538	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,304,740	L135P	probably damaging	Het
Ttl	A	T	2: 129,068,858	H54L	probably damaging	Het
Ttn	T	A	2: 76,829,907	T12110S	unknown	Het
Uba6	T	C	5: 86,148,913	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Ush2a	A	T	1: 188,263,034	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,843,134	V158F	probably benign	Het
Wif1	A	G	10: 121,096,716	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,904,826	N482K	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
R7027:Smarca5	UTSW	8	80,736,726 (GRCm38)	missense	probably benign	0.07
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
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'- ACATCTTCATGTCATGTACAGCATGG -3'
(R):5'- ACCCAAGTAGCATGTTTCAGGAG -3'

Sequencing Primer
(F):5'- GCATGGCTGTTAACAATTCATAAAGC -3'
(R):5'- CCAAGTAGCATGTTTCAGGAGTTTAC -3'

Posted On

2021-04-30