Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Smarcad1'

380987

Institutional Source

Beutler Lab

Gene Symbol

Smarcad1

Ensembl Gene

ENSMUSG00000029920

Gene Name

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

Synonyms

Etl1, D6Pas1

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65019577-65093045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65051898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 344 (F344I)

Ref Sequence

ENSEMBL: ENSMUSP00000031984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031984] [ENSMUST00000204620]

AlphaFold

Q04692

Predicted Effect

probably benign
Transcript: ENSMUST00000031984
AA Change: F344I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: F344I

Domain	Start	End	E-Value	Type
low complexity region	17	37	N/A	INTRINSIC
low complexity region	39	53	N/A	INTRINSIC
low complexity region	143	156	N/A	INTRINSIC
low complexity region	210	224	N/A	INTRINSIC
low complexity region	233	244	N/A	INTRINSIC
low complexity region	333	348	N/A	INTRINSIC
DEXDc	488	682	2.58e-38	SMART
Blast:DEXDc	685	745	4e-16	BLAST
HELICc	879	962	4.58e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204420

Predicted Effect

probably benign
Transcript: ENSMUST00000204620

SMART Domains

Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920

Domain	Start	End	E-Value	Type
low complexity region	17	37	N/A	INTRINSIC
low complexity region	39	53	N/A	INTRINSIC

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. [provided by MGI curators]

Allele List at MGI

All alleles(258) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(256)

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 82,805,086 (GRCm39)		noncoding transcript	Het
Aasdh	T	A	5: 77,044,535 (GRCm39)	K118N	possibly damaging	Het
Abca14	A	T	7: 119,923,803 (GRCm39)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,776,641 (GRCm39)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Aifm3	T	C	16: 17,318,296 (GRCm39)		probably benign	Het
Aldh16a1	A	G	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Amer2	A	T	14: 60,616,894 (GRCm39)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 78,152,957 (GRCm39)		probably null	Het
Arhgef6	A	T	X: 56,280,238 (GRCm39)	D742E	probably damaging	Het
Astn2	A	T	4: 65,647,644 (GRCm39)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,105,954 (GRCm39)	T904A	possibly damaging	Het
Atr	C	T	9: 95,789,352 (GRCm39)	R1503W	probably damaging	Het
Cdh3	G	T	8: 107,263,242 (GRCm39)	R97L	probably benign	Het
Chst2	C	T	9: 95,288,059 (GRCm39)	V96I	probably benign	Het
Cit	T	A	5: 116,123,856 (GRCm39)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,658,897 (GRCm39)		probably null	Het
Col4a3	G	A	1: 82,688,698 (GRCm39)		probably benign	Het
Copz1	T	A	15: 103,199,757 (GRCm39)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,646,143 (GRCm39)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 95,990,388 (GRCm39)		probably null	Het
Dctn1	T	A	6: 83,166,189 (GRCm39)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,742,751 (GRCm39)	I148V	probably benign	Het
Dnah17	T	C	11: 117,918,259 (GRCm39)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,110,837 (GRCm39)	N145D	possibly damaging	Het
Ecpas	A	G	4: 58,827,073 (GRCm39)	V1020A	probably damaging	Het
Entrep2	G	T	7: 64,409,116 (GRCm39)	S426*	probably null	Het
Ercc6l2	T	C	13: 64,042,627 (GRCm39)		probably benign	Het
Fads6	T	G	11: 115,187,387 (GRCm39)	I103L	probably benign	Het
Fat4	T	G	3: 39,064,614 (GRCm39)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,457,671 (GRCm39)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,826,655 (GRCm39)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,406,577 (GRCm39)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,006,373 (GRCm39)	S507R	probably benign	Het
Gm15142	T	A	X: 153,421,415 (GRCm39)		noncoding transcript	Het
Gm4787	T	C	12: 81,425,612 (GRCm39)	E182G	probably benign	Het
Gm6811	C	A	17: 21,314,893 (GRCm39)		noncoding transcript	Het
Gm9791	A	T	3: 34,059,218 (GRCm39)		noncoding transcript	Het
Hoxb7	A	T	11: 96,180,336 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,892,819 (GRCm39)		probably benign	Het
Krt28	C	T	11: 99,265,458 (GRCm39)	V70I	probably benign	Het
Lig1	T	C	7: 13,032,664 (GRCm39)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,060,048 (GRCm39)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,088,663 (GRCm39)	V489A	probably benign	Het
Mcm8	C	T	2: 132,681,399 (GRCm39)	P625L	probably benign	Het
Megf10	G	T	18: 57,373,745 (GRCm39)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,745,726 (GRCm39)	G440D	probably benign	Het
Mllt3	T	C	4: 87,700,642 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,371,639 (GRCm39)	Y2613*	probably null	Het
Myh14	C	T	7: 44,284,926 (GRCm39)	G662S	probably benign	Het
Myod1	T	A	7: 46,026,474 (GRCm39)	N126K	probably damaging	Het
Nae1	A	T	8: 105,242,774 (GRCm39)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,135,765 (GRCm39)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 26,983,031 (GRCm39)	C926*	probably null	Het
Ndufv2	C	A	17: 66,399,653 (GRCm39)		probably null	Het
Neb	T	C	2: 52,102,987 (GRCm39)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,685,550 (GRCm39)	E566V	probably null	Het
Oas1a	C	T	5: 121,043,787 (GRCm39)	R115H	probably benign	Het
Or10ag60	C	A	2: 87,438,487 (GRCm39)	L252I	probably benign	Het
Or51b6	A	G	7: 103,555,879 (GRCm39)	T78A	probably damaging	Het
Or5w19	A	G	2: 87,698,574 (GRCm39)	M80V	probably benign	Het
Or8k30	T	A	2: 86,339,469 (GRCm39)	L222H	probably damaging	Het
Pbld2	A	G	10: 62,883,778 (GRCm39)	H142R	probably damaging	Het
Pcdha4	C	T	18: 37,087,869 (GRCm39)	T684M	probably benign	Het
Phc3	G	T	3: 31,005,068 (GRCm39)	T175N	probably damaging	Het
Pigs	G	T	11: 78,219,828 (GRCm39)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,913,528 (GRCm39)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 71,953,998 (GRCm39)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,889,850 (GRCm39)	W374*	probably null	Het
Ptpn14	G	A	1: 189,554,839 (GRCm39)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,336,446 (GRCm39)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,580,862 (GRCm39)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,655,256 (GRCm39)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,699,981 (GRCm39)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,116,570 (GRCm39)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,669,514 (GRCm39)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,671,849 (GRCm39)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,393,167 (GRCm39)		probably benign	Het
Scnn1a	T	C	6: 125,299,136 (GRCm39)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,842,758 (GRCm39)		probably benign	Het
Sfmbt2	T	C	2: 10,450,556 (GRCm39)	L277P	probably benign	Het
Sgf29	A	G	7: 126,264,154 (GRCm39)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,183,306 (GRCm39)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,640,340 (GRCm39)		probably null	Het
Slc9a3	T	G	13: 74,305,838 (GRCm39)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,395,772 (GRCm39)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,392,882 (GRCm39)	R325C	probably damaging	Het
Snrnp70	A	T	7: 45,026,705 (GRCm39)		probably null	Het
Sod2	C	T	17: 13,227,073 (GRCm39)	T9M	probably benign	Het
Spag5	T	A	11: 78,205,199 (GRCm39)	S633T	probably damaging	Het
Spta1	A	T	1: 174,018,622 (GRCm39)	I531L	probably benign	Het
Stra8	A	G	6: 34,910,091 (GRCm39)	E60G	probably benign	Het
Sult2a3	T	A	7: 13,845,482 (GRCm39)	I126F	probably benign	Het
Syt1	T	C	10: 108,340,373 (GRCm39)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,758,588 (GRCm39)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,899,162 (GRCm39)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,693,989 (GRCm39)	K33*	probably null	Het
Trim17	T	C	11: 58,845,127 (GRCm39)		probably benign	Het
Tsr1	G	A	11: 74,798,705 (GRCm39)	M691I	probably benign	Het
Ttn	T	A	2: 76,592,763 (GRCm39)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,312,168 (GRCm39)	Y208*	probably null	Het
Ubr1	T	A	2: 120,745,419 (GRCm39)	I890F	probably damaging	Het
Usp54	T	C	14: 20,612,260 (GRCm39)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,835 (GRCm39)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,470,475 (GRCm39)	K315E	probably benign	Het
Xrn2	T	C	2: 146,893,638 (GRCm39)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,347,973 (GRCm39)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,604,962 (GRCm39)	C648*	probably null	Het
Zfp369	A	G	13: 65,444,614 (GRCm39)	T586A	possibly damaging	Het

Other mutations in Smarcad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Smarcad1	APN	6	65,050,223 (GRCm39)	missense	probably damaging	1.00
IGL02707:Smarcad1	APN	6	65,029,790 (GRCm39)	unclassified	probably benign
IGL03006:Smarcad1	APN	6	65,060,873 (GRCm39)	missense	probably benign	0.01
IGL03131:Smarcad1	APN	6	65,051,937 (GRCm39)	missense	probably damaging	0.96
IGL03406:Smarcad1	APN	6	65,069,510 (GRCm39)	missense	probably damaging	0.98
Trollip	UTSW	6	65,091,320 (GRCm39)	missense	probably damaging	1.00
wastrel	UTSW	6	65,029,654 (GRCm39)	missense	probably damaging	1.00
N/A - 293:Smarcad1	UTSW	6	65,051,898 (GRCm39)	missense	probably benign	0.06
R0020:Smarcad1	UTSW	6	65,060,991 (GRCm39)	splice site	probably benign
R0452:Smarcad1	UTSW	6	65,051,806 (GRCm39)	missense	possibly damaging	0.66
R1005:Smarcad1	UTSW	6	65,085,711 (GRCm39)	missense	probably benign	0.30
R1143:Smarcad1	UTSW	6	65,073,678 (GRCm39)	missense	probably benign	0.02
R1624:Smarcad1	UTSW	6	65,029,631 (GRCm39)	missense	probably benign	0.40
R1629:Smarcad1	UTSW	6	65,044,091 (GRCm39)	missense	probably benign	0.00
R1705:Smarcad1	UTSW	6	65,033,400 (GRCm39)	missense	probably damaging	1.00
R2000:Smarcad1	UTSW	6	65,050,200 (GRCm39)	missense	probably damaging	1.00
R2979:Smarcad1	UTSW	6	65,051,995 (GRCm39)	missense	probably benign	0.00
R3937:Smarcad1	UTSW	6	65,091,320 (GRCm39)	missense	probably damaging	1.00
R4391:Smarcad1	UTSW	6	65,033,443 (GRCm39)	missense	probably benign	0.17
R4648:Smarcad1	UTSW	6	65,044,073 (GRCm39)	missense	probably benign	0.04
R4697:Smarcad1	UTSW	6	65,029,625 (GRCm39)	missense	probably benign	0.00
R4709:Smarcad1	UTSW	6	65,052,099 (GRCm39)	missense	probably benign	0.01
R4726:Smarcad1	UTSW	6	65,052,025 (GRCm39)	missense	probably damaging	1.00
R4776:Smarcad1	UTSW	6	65,075,808 (GRCm39)	missense	probably null	1.00
R5619:Smarcad1	UTSW	6	65,088,865 (GRCm39)	missense	probably benign	0.03
R5709:Smarcad1	UTSW	6	65,051,746 (GRCm39)	missense	probably benign	0.01
R6038:Smarcad1	UTSW	6	65,050,232 (GRCm39)	missense	possibly damaging	0.91
R6038:Smarcad1	UTSW	6	65,050,232 (GRCm39)	missense	possibly damaging	0.91
R6220:Smarcad1	UTSW	6	65,091,313 (GRCm39)	missense	probably benign	0.09
R6302:Smarcad1	UTSW	6	65,052,122 (GRCm39)	missense	possibly damaging	0.93
R7014:Smarcad1	UTSW	6	65,029,654 (GRCm39)	missense	probably damaging	1.00
R7149:Smarcad1	UTSW	6	65,029,716 (GRCm39)	missense	probably benign	0.11
R7378:Smarcad1	UTSW	6	65,087,360 (GRCm39)	missense	probably benign	0.16
R7569:Smarcad1	UTSW	6	65,029,695 (GRCm39)	missense	probably benign	0.11
R7626:Smarcad1	UTSW	6	65,073,033 (GRCm39)	missense	possibly damaging	0.71
R7774:Smarcad1	UTSW	6	65,084,814 (GRCm39)	missense	probably damaging	1.00
R8079:Smarcad1	UTSW	6	65,029,766 (GRCm39)	missense	possibly damaging	0.51
R8119:Smarcad1	UTSW	6	65,071,303 (GRCm39)	missense	probably benign
R8129:Smarcad1	UTSW	6	65,044,078 (GRCm39)	missense	probably benign	0.09
R8558:Smarcad1	UTSW	6	65,060,908 (GRCm39)	missense	probably benign	0.09
R8679:Smarcad1	UTSW	6	65,088,865 (GRCm39)	missense	probably benign	0.03
R8770:Smarcad1	UTSW	6	65,029,718 (GRCm39)	missense	probably benign
R8795:Smarcad1	UTSW	6	65,049,033 (GRCm39)	missense	probably benign	0.10
R9104:Smarcad1	UTSW	6	65,075,649 (GRCm39)	missense	probably benign	0.06
R9133:Smarcad1	UTSW	6	65,049,035 (GRCm39)	missense	probably damaging	0.99
R9400:Smarcad1	UTSW	6	65,050,214 (GRCm39)	missense	probably damaging	0.97
R9401:Smarcad1	UTSW	6	65,071,321 (GRCm39)	missense	probably benign	0.00
R9608:Smarcad1	UTSW	6	65,091,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGAAGTTGTGGTTGAATTCAG -3'
(R):5'- CTTAGGAATCAAAGTCAGTTCAGC -3'

Sequencing Primer
(F):5'- TGTGGTTGAATTCAGTATTTACAAGG -3'
(R):5'- GGAATCAAAGTCAGTTCAGCAATTG -3'

Posted On

2016-04-15