Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Smarca5'

718383

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9514 (G1)

Quality Score

171.009

Status

Not validated

Chromosome

Chromosomal Location

81426572-81466088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81428840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 1003 (L1003V)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

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

AlphaFold

Q91ZW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000043359
AA Change: L1003V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: L1003V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,533 (GRCm39)	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Acsl6	A	G	11: 54,225,880 (GRCm39)	N307D	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Cacna2d4	T	C	6: 119,213,611 (GRCm39)	L10S	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Cebpz	A	T	17: 79,239,684 (GRCm39)	M579K	probably benign	Het
Cenpk	T	G	13: 104,370,682 (GRCm39)	C103G	probably benign	Het
Cep97	T	A	16: 55,726,093 (GRCm39)	Q670L	probably benign	Het
Cfap65	C	T	1: 74,945,468 (GRCm39)		probably null	Het
Cir1	A	G	2: 73,142,781 (GRCm39)	S18P	probably damaging	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Creld1	T	C	6: 113,469,765 (GRCm39)	F389S	probably damaging	Het
Dimt1	T	C	13: 107,093,636 (GRCm39)	I276T	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dsp	T	A	13: 38,371,781 (GRCm39)	C911S	probably benign	Het
Egr3	A	G	14: 70,314,978 (GRCm39)	I29V	probably benign	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fam83a	G	A	15: 57,849,765 (GRCm39)	G103D	possibly damaging	Het
Fat2	T	A	11: 55,175,808 (GRCm39)	Q1635L	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Fryl	T	C	5: 73,262,115 (GRCm39)	K551E	probably damaging	Het
Galr2	A	G	11: 116,174,452 (GRCm39)	T361A	probably benign	Het
Gart	A	T	16: 91,427,596 (GRCm39)	S467R	probably benign	Het
Ggps1	T	C	13: 14,229,742 (GRCm39)	K45R	probably benign	Het
Ghsr	G	C	3: 27,426,630 (GRCm39)	V229L	possibly damaging	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hectd2	A	T	19: 36,582,689 (GRCm39)	H473L	possibly damaging	Het
Hic2	T	C	16: 17,076,293 (GRCm39)	V374A	possibly damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt34	A	T	11: 99,929,226 (GRCm39)	I328N	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Mier2	T	C	10: 79,377,496 (GRCm39)	S486G	probably benign	Het
Mllt10	A	G	2: 18,164,322 (GRCm39)	D284G	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,248,133 (GRCm39)	S1724P	probably benign	Het
Nipal4	T	A	11: 46,052,922 (GRCm39)		probably null	Het
Nlrc4	G	C	17: 74,753,736 (GRCm39)	L216V	probably benign	Het
Ogfr	A	G	2: 180,235,417 (GRCm39)	M164V	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4b12	G	A	2: 90,096,709 (GRCm39)	Q22*	probably null	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Prex1	C	T	2: 166,419,896 (GRCm39)	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,818,619 (GRCm39)	V47A	probably benign	Het
Ptch1	T	C	13: 63,675,071 (GRCm39)	T851A	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Ptprm	A	G	17: 67,116,466 (GRCm39)	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,507,203 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,443,684 (GRCm39)	V89A	probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,066,770 (GRCm39)		probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,066,765 (GRCm39)		probably benign	Het
Slain1	T	A	14: 103,932,748 (GRCm39)	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,400,532 (GRCm39)	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,659,452 (GRCm39)	F914S	possibly damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Spata31d1e	A	G	13: 59,890,806 (GRCm39)	V338A	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tktl2	C	G	8: 66,965,840 (GRCm39)	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tom1l2	T	C	11: 60,153,486 (GRCm39)	T164A	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Trim11	G	T	11: 58,878,477 (GRCm39)	A251S	unknown	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,960,040 (GRCm39)	N1225S	probably benign	Het
Usp21	T	C	1: 171,112,503 (GRCm39)	Y300C	probably damaging	Het
Usp32	T	C	11: 84,913,560 (GRCm39)	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,539,015 (GRCm39)	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Zc3h8	T	C	2: 128,773,223 (GRCm39)	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,232,337 (GRCm39)	D55E	probably benign	Het
Zfp408	A	T	2: 91,478,368 (GRCm39)	W26R	probably damaging	Het
Zfp937	G	T	2: 150,080,890 (GRCm39)	A307S	possibly 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
R1709:Smarca5	UTSW	8	81,435,849 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACCTGAATATCAACCTCTGTCC -3'
(R):5'- CTCATAGCGTGGTCTGTGAG -3'

Sequencing Primer
(F):5'- TACATATATGGAGCGCGCAC -3'
(R):5'- GTCTGTGAGAAAAAATAACTTCC -3'

Posted On

2022-07-18