Mutagenetix > Incidental Mutations

Incidental Mutation 'R7014:Smarcad1'

545179

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

Accession Numbers

Genbank: NM_007958; MGI: 95453

Is this an essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65042583-65116061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65052670 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000145195 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031984
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: S81P

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

probably damaging
Transcript: ENSMUST00000204620
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000144767
Gene: ENSMUSG00000029920
AA Change: S81P

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 damaging
Transcript: ENSMUST00000204801
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000145195
Gene: ENSMUSG00000029920
AA Change: S81P

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

Meta Mutation Damage Score

0.1411

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,454,574	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,503	I294N	probably damaging	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,049,427	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,919	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Wiz	C	A	17: 32,361,866	A83S	probably damaging	Het
Zmym6	T	A	4: 127,123,544	Y947*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCAAGACTTTGGGGTGAG -3'
(R):5'- CCCAGCAATGACAGATGATTAACAG -3'

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

Posted On

2019-05-13