Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Smarcad1'

350480

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

D6Pas1, Etl1

MMRRC Submission

041909-MU

Accession Numbers

Genbank: NM_007958; MGI: 95453

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65042583-65116061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65067089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

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: E215G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: E215G

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

noncoding transcript
Transcript: ENSMUST00000203756

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205092

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,293,598	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,627,367	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,354,446	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,349,882	F352L	probably damaging	Het
Angpt1	T	A	15: 42,676,184	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,024	*129W	probably null	Het
Atp5j	T	C	16: 84,828,455	M87V	probably benign	Het
Atp8b3	A	G	10: 80,525,623	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bbs2	A	T	8: 94,080,879	V429E	probably damaging	Het
Bccip	C	T	7: 133,714,899	L83F	probably damaging	Het
Brd9	G	A	13: 73,940,776	V198I	probably benign	Het
C1galt1c1	A	T	X: 38,631,472	S216T	probably benign	Het
C77080	G	T	4: 129,221,940	T977K	probably benign	Het
Calhm1	A	G	19: 47,143,801	L125P	probably damaging	Het
Ccdc110	A	T	8: 45,942,668	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,925,177	L343F	probably benign	Het
Cep350	A	G	1: 155,902,598	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 104,356,320	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,093,828	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Crp	A	G	1: 172,698,137	M1V	probably null	Het
Csmd1	G	A	8: 15,998,788	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,460,688	I74F	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dcaf1	A	T	9: 106,865,677		probably benign	Het
Dhx16	C	G	17: 35,885,635	A565G	probably benign	Het
Dock7	C	A	4: 98,969,644	E1448*	probably null	Het
Dpf2	C	T	19: 5,907,081	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,148,845	R56S	unknown	Het
Etnk1	A	G	6: 143,195,274	Y248C	probably damaging	Het
Ext1	A	G	15: 53,089,987	S494P	possibly damaging	Het
Gk2	T	C	5: 97,455,720	S420G	probably benign	Het
Gm26596	T	C	10: 112,929,159		probably benign	Het
Gm5414	G	T	15: 101,628,108	N27K	possibly damaging	Het
Gskip	A	G	12: 105,698,729	D9G	probably benign	Het
H2-K2	T	A	17: 33,976,015		noncoding transcript	Het
Hk1	T	G	10: 62,304,779	S105R	probably benign	Het
Hmg20b	T	A	10: 81,348,582	Q129L	probably damaging	Het
Idnk	A	G	13: 58,162,869	D67G	probably benign	Het
Igfbp5	G	T	1: 72,864,063	H118N	probably benign	Het
Irf4	A	T	13: 30,763,597	Y427F	probably benign	Het
Khdc3	A	G	9: 73,102,586	E26G	possibly damaging	Het
Kif7	T	C	7: 79,709,191	D512G	probably damaging	Het
Lamb3	T	A	1: 193,331,357	I513N	probably damaging	Het
Lipo1	A	G	19: 33,783,460	L174P	probably damaging	Het
Lnx1	C	T	5: 74,610,796	V350I	probably benign	Het
Map3k21	A	G	8: 125,942,111	D812G	probably benign	Het
Mast2	G	T	4: 116,314,839	Y637*	probably null	Het
Matn2	T	C	15: 34,428,533	I681T	probably damaging	Het
Med18	A	T	4: 132,462,963	V37D	possibly damaging	Het
Mip	T	A	10: 128,227,053	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233	D180V	probably damaging	Het
Mpg	C	A	11: 32,230,034	C187*	probably null	Het
Mtmr14	A	G	6: 113,260,606	E256G	probably benign	Het
Myo7b	C	T	18: 31,967,125		probably null	Het
Nmt1	T	A	11: 103,063,917	V425D	probably damaging	Het
Nynrin	T	A	14: 55,872,894	Y1819*	probably null	Het
Olfr1212	T	A	2: 88,959,212	F249I	probably damaging	Het
Olfr1330	A	G	4: 118,893,950	N289S	possibly damaging	Het
Olfr152	T	C	2: 87,783,221	V227A	possibly damaging	Het
Otof	T	C	5: 30,383,570	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,108,210	R102*	probably null	Het
Phc1	T	C	6: 122,321,913	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,816,774	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,125,218	D246V	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Ror2	A	T	13: 53,285,500	C9*	probably null	Het
Setd1b	C	T	5: 123,148,112	A407V	unknown	Het
Slc26a4	T	G	12: 31,540,526	D376A	possibly damaging	Het
Spag16	G	A	1: 69,827,035	R11Q	probably null	Het
Sult1d1	T	A	5: 87,566,095	Q30L	probably benign	Het
Tbc1d5	A	G	17: 50,736,223	C746R	probably benign	Het
Tdh	A	G	14: 63,493,756	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082	M197K	probably benign	Het
Tnn	T	C	1: 160,146,042	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981	E215*	probably null	Het
Trem1	G	A	17: 48,244,562	V84I	probably benign	Het
Tspan5	T	C	3: 138,898,315	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044	R647G	probably benign	Het
Usp50	T	A	2: 126,778,033	I120F	probably damaging	Het
Vil1	T	C	1: 74,432,298	M746T	probably benign	Het
Washc4	T	A	10: 83,574,543	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,511,880	T681A	probably benign	Het

Other mutations in Smarcad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Smarcad1	APN	6	65073239	missense	probably damaging	1.00
IGL02707:Smarcad1	APN	6	65052806	unclassified	probably benign
IGL03006:Smarcad1	APN	6	65083889	missense	probably benign	0.01
IGL03131:Smarcad1	APN	6	65074953	missense	probably damaging	0.96
IGL03406:Smarcad1	APN	6	65092526	missense	probably damaging	0.98
Trollip	UTSW	6	65114336	missense	probably damaging	1.00
wastrel	UTSW	6	65052670	missense	probably damaging	1.00
N/A - 293:Smarcad1	UTSW	6	65074914	missense	probably benign	0.06
R0020:Smarcad1	UTSW	6	65084007	splice site	probably benign
R0452:Smarcad1	UTSW	6	65074822	missense	possibly damaging	0.66
R1005:Smarcad1	UTSW	6	65108727	missense	probably benign	0.30
R1143:Smarcad1	UTSW	6	65096694	missense	probably benign	0.02
R1624:Smarcad1	UTSW	6	65052647	missense	probably benign	0.40
R1629:Smarcad1	UTSW	6	65067107	missense	probably benign	0.00
R1705:Smarcad1	UTSW	6	65056416	missense	probably damaging	1.00
R2000:Smarcad1	UTSW	6	65073216	missense	probably damaging	1.00
R2979:Smarcad1	UTSW	6	65075011	missense	probably benign	0.00
R3937:Smarcad1	UTSW	6	65114336	missense	probably damaging	1.00
R4391:Smarcad1	UTSW	6	65056459	missense	probably benign	0.17
R4697:Smarcad1	UTSW	6	65052641	missense	probably benign	0.00
R4709:Smarcad1	UTSW	6	65075115	missense	probably benign	0.01
R4726:Smarcad1	UTSW	6	65075041	missense	probably damaging	1.00
R4776:Smarcad1	UTSW	6	65098824	missense	probably null	1.00
R4928:Smarcad1	UTSW	6	65074914	missense	probably benign	0.06
R5619:Smarcad1	UTSW	6	65111881	missense	probably benign	0.03
R5709:Smarcad1	UTSW	6	65074762	missense	probably benign	0.01
R6038:Smarcad1	UTSW	6	65073248	missense	possibly damaging	0.91
R6038:Smarcad1	UTSW	6	65073248	missense	possibly damaging	0.91
R6220:Smarcad1	UTSW	6	65114329	missense	probably benign	0.09
R6302:Smarcad1	UTSW	6	65075138	missense	possibly damaging	0.93
R7014:Smarcad1	UTSW	6	65052670	missense	probably damaging	1.00
R7149:Smarcad1	UTSW	6	65052732	missense	probably benign	0.11
R7378:Smarcad1	UTSW	6	65110376	missense	probably benign	0.16
R7569:Smarcad1	UTSW	6	65052711	missense	probably benign	0.11
R7626:Smarcad1	UTSW	6	65096049	missense	possibly damaging	0.71
R7774:Smarcad1	UTSW	6	65107830	missense	probably damaging	1.00
R8079:Smarcad1	UTSW	6	65052782	missense	possibly damaging	0.51
R8119:Smarcad1	UTSW	6	65094319	missense	probably benign
R8129:Smarcad1	UTSW	6	65067094	missense	probably benign	0.09
R8558:Smarcad1	UTSW	6	65083924	missense	probably benign	0.09
R8679:Smarcad1	UTSW	6	65111881	missense	probably benign	0.03
R8770:Smarcad1	UTSW	6	65052734	missense	probably benign
R8795:Smarcad1	UTSW	6	65072049	missense	probably benign	0.10
R9104:Smarcad1	UTSW	6	65098665	missense	probably benign	0.06
R9133:Smarcad1	UTSW	6	65072051	missense	probably damaging	0.99
R9400:Smarcad1	UTSW	6	65073230	missense	probably damaging	0.97
R9401:Smarcad1	UTSW	6	65094337	missense	probably benign	0.00
R9608:Smarcad1	UTSW	6	65114334	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGTGGAGAGTCTTTCCTTTC -3'
(R):5'- GGACTTTCAGGTCTGACATCC -3'

Sequencing Primer
(F):5'- GGAGAGTCTTTCCTTTCCTTTAATC -3'
(R):5'- CCATGGTTGGAACTGAACCTAAGTC -3'

Posted On

2015-10-08