Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Smarcad1'

288141

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

65042583-65116061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65073239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 281 (A281T)

Ref Sequence

ENSEMBL: ENSMUSP00000031984 (fasta)

Gene Model

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

AlphaFold

Q04692

Predicted Effect

probably damaging
Transcript: ENSMUST00000031984
AA Change: A281T

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

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: A281T

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

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541	S60P	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	probably benign	Het

Other mutations in Smarcad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16