Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Smarca5'

190327

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

D330027N15Rik, 4933427E24Rik, D030040M08Rik, Snf2h, MommeD4

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81426572-81466088 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 81435849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 763 (R763*)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

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

AlphaFold

Q91ZW3

Predicted Effect

probably null
Transcript: ENSMUST00000043359
AA Change: R763*

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: R763*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150277

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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. 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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,256,292 (GRCm39)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,948,581 (GRCm39)	Q297L	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,602,694 (GRCm39)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,651,553 (GRCm39)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,554,498 (GRCm39)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	probably damaging	Het

Other mutations in Smarca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Smarca5	APN	8	81,440,670 (GRCm39)	missense	probably benign	0.10
IGL01138:Smarca5	APN	8	81,427,705 (GRCm39)	missense	possibly damaging	0.87
IGL01290:Smarca5	APN	8	81,454,277 (GRCm39)	missense	probably benign
IGL02338:Smarca5	APN	8	81,446,199 (GRCm39)	splice site	probably benign
IGL03212:Smarca5	APN	8	81,438,410 (GRCm39)	missense	possibly damaging	0.47
IGL03216:Smarca5	APN	8	81,446,287 (GRCm39)	missense	probably damaging	1.00
Cipher	UTSW	8	81,446,281 (GRCm39)	missense	probably damaging	1.00
Codebook	UTSW	8	81,460,336 (GRCm39)	missense	probably benign
Codex	UTSW	8	81,437,192 (GRCm39)	missense	probably damaging	0.99
Encryption	UTSW	8	81,431,355 (GRCm39)	missense	probably damaging	1.00
Enigma	UTSW	8	81,431,961 (GRCm39)	missense	probably benign	0.35
Key	UTSW	8	81,452,680 (GRCm39)	missense	probably damaging	1.00
Sailor	UTSW	8	81,463,355 (GRCm39)	missense	probably benign	0.07
Soldier	UTSW	8	81,446,344 (GRCm39)	missense	probably damaging	1.00
tinker	UTSW	8	81,460,379 (GRCm39)	missense	probably benign
R0254:Smarca5	UTSW	8	81,431,329 (GRCm39)	missense	probably benign	0.05
R0374:Smarca5	UTSW	8	81,463,360 (GRCm39)	missense	probably benign	0.30
R0625:Smarca5	UTSW	8	81,447,315 (GRCm39)	critical splice donor site	probably null
R1065:Smarca5	UTSW	8	81,431,343 (GRCm39)	missense	probably damaging	1.00
R1164:Smarca5	UTSW	8	81,437,260 (GRCm39)	missense	probably damaging	1.00
R2102:Smarca5	UTSW	8	81,431,304 (GRCm39)	missense	probably damaging	1.00
R3831:Smarca5	UTSW	8	81,455,123 (GRCm39)	missense	probably damaging	0.99
R4625:Smarca5	UTSW	8	81,437,192 (GRCm39)	missense	probably damaging	0.99
R4750:Smarca5	UTSW	8	81,460,336 (GRCm39)	missense	probably benign
R4822:Smarca5	UTSW	8	81,435,309 (GRCm39)	splice site	probably null
R4889:Smarca5	UTSW	8	81,431,326 (GRCm39)	missense	possibly damaging	0.95
R5756:Smarca5	UTSW	8	81,437,233 (GRCm39)	missense	probably benign
R6120:Smarca5	UTSW	8	81,438,372 (GRCm39)	missense	probably damaging	0.98
R6582:Smarca5	UTSW	8	81,446,281 (GRCm39)	missense	probably damaging	1.00
R6939:Smarca5	UTSW	8	81,431,949 (GRCm39)	missense	possibly damaging	0.63
R6972:Smarca5	UTSW	8	81,431,380 (GRCm39)	missense	probably damaging	1.00
R6973:Smarca5	UTSW	8	81,431,380 (GRCm39)	missense	probably damaging	1.00
R7027:Smarca5	UTSW	8	81,463,355 (GRCm39)	missense	probably benign	0.07
R7376:Smarca5	UTSW	8	81,452,680 (GRCm39)	missense	probably damaging	1.00
R7514:Smarca5	UTSW	8	81,444,163 (GRCm39)	missense	probably damaging	1.00
R7962:Smarca5	UTSW	8	81,463,388 (GRCm39)	missense	probably benign
R8031:Smarca5	UTSW	8	81,431,311 (GRCm39)	missense	probably damaging	1.00
R8400:Smarca5	UTSW	8	81,435,756 (GRCm39)	missense	probably benign	0.02
R8798:Smarca5	UTSW	8	81,443,137 (GRCm39)	missense	probably damaging	1.00
R8817:Smarca5	UTSW	8	81,460,379 (GRCm39)	missense	probably benign
R8824:Smarca5	UTSW	8	81,431,961 (GRCm39)	missense	probably benign	0.35
R8905:Smarca5	UTSW	8	81,440,577 (GRCm39)	missense	probably benign	0.14
R9018:Smarca5	UTSW	8	81,431,355 (GRCm39)	missense	probably damaging	1.00
R9028:Smarca5	UTSW	8	81,440,642 (GRCm39)	missense	probably damaging	1.00
R9203:Smarca5	UTSW	8	81,431,258 (GRCm39)	nonsense	probably null
R9253:Smarca5	UTSW	8	81,446,344 (GRCm39)	missense	probably damaging	1.00
R9294:Smarca5	UTSW	8	81,446,432 (GRCm39)	missense	probably damaging	1.00
R9328:Smarca5	UTSW	8	81,447,378 (GRCm39)	missense	probably benign	0.00
R9396:Smarca5	UTSW	8	81,463,358 (GRCm39)	missense	probably benign	0.00
R9514:Smarca5	UTSW	8	81,428,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTTGTGGTCTGAGAAGAAAATG -3'
(R):5'- CGTGTTAGTGAGCCTAAAGCACCC -3'

Sequencing Primer
(F):5'- TGCAAAGAGAAGAATTTGAATCACC -3'
(R):5'- tcagaaatccgcctgcc -3'

Posted On

2014-05-14