Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Smarcad1'

629198

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

Accession Numbers

Genbank: NM_007958; MGI: 95453

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65042583-65116061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65052782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 118 (D118G)

Ref Sequence

ENSEMBL: ENSMUSP00000031984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031984] [ENSMUST00000204114] [ENSMUST00000204620] [ENSMUST00000204801] [ENSMUST00000204955]

AlphaFold

Q04692

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031984
AA Change: D118G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: D118G

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: ENSMUST00000204114

SMART Domains

Protein: ENSMUSP00000145228
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

possibly damaging
Transcript: ENSMUST00000204620
AA Change: D118G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920
AA Change: D118G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204801
AA Change: D118G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145195
Gene: ENSMUSG00000029920
AA Change: D118G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204955

SMART Domains

Protein: ENSMUSP00000145152
Gene: ENSMUSG00000029920

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Akap10	G	A	11: 61,930,054	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		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
R4648:Smarcad1	UTSW	6	65067089	missense	probably benign	0.04
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
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'- CCTGTTCTGTGTCAGTGGAAAG -3'
(R):5'- CCAGCAATGACAGATGATTAACAG -3'

Sequencing Primer
(F):5'- TGCTCTTCCAGAGGACCTAAG -3'
(R):5'- TCATTTTGCAGGAAACAGAA -3'

Posted On

2020-06-30