Mutagenetix > Incidental Mutation

Incidental Mutation 'R8679:Smarcad1'

661581

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

068534-MU

Accession Numbers

Essential gene?

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

Stock #

R8679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65019577-65093045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65088865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1000 (D1000E)

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: D1000E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: D1000E

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: ENSMUST00000203104

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

0.0878

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,152,479 (GRCm39)	T1356A	possibly damaging	Het
Ace3	A	G	11: 105,886,701 (GRCm39)	T154A	probably benign	Het
Arhgap31	C	A	16: 38,422,966 (GRCm39)	Q1033H	probably damaging	Het
C1qtnf1	C	T	11: 118,337,340 (GRCm39)	R57*	probably null	Het
Cacna1g	T	C	11: 94,319,962 (GRCm39)	T1405A	probably damaging	Het
Cacna1i	A	G	15: 80,260,011 (GRCm39)		probably benign	Het
Cdca4	T	A	12: 112,785,734 (GRCm39)		probably null	Het
Cpa4	T	A	6: 30,585,158 (GRCm39)	M314K	probably damaging	Het
Cpn2	A	T	16: 30,078,085 (GRCm39)	S539T	possibly damaging	Het
Crebbp	A	G	16: 3,902,322 (GRCm39)	S2306P	probably damaging	Het
Cspg4b	A	G	13: 113,488,163 (GRCm39)	R9G		Het
Dcaf5	T	C	12: 80,385,807 (GRCm39)	H773R	probably benign	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Dnah1	G	T	14: 30,989,767 (GRCm39)	R3250S	possibly damaging	Het
Dnajc25	A	C	4: 59,020,195 (GRCm39)	K206T	possibly damaging	Het
Dnajc27	T	C	12: 4,146,325 (GRCm39)	L118P	possibly damaging	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Faap100	A	G	11: 120,263,003 (GRCm39)	I785T	probably damaging	Het
Fam227b	A	T	2: 125,830,928 (GRCm39)	D425E	probably benign	Het
Fat4	C	G	3: 39,064,842 (GRCm39)	L4933V	probably damaging	Het
Fbrsl1	A	G	5: 110,526,086 (GRCm39)	F39L	probably damaging	Het
Fezf1	A	G	6: 23,247,769 (GRCm39)	V102A	probably benign	Het
Gabra2	T	C	5: 71,170,040 (GRCm39)		probably benign	Het
Garnl3	C	A	2: 32,916,106 (GRCm39)	R346L	probably damaging	Het
Grin2a	A	T	16: 9,403,089 (GRCm39)	I799N	possibly damaging	Het
Hspa4	A	G	11: 53,160,691 (GRCm39)	F462L	probably damaging	Het
Iars1	C	A	13: 49,856,675 (GRCm39)		probably benign	Het
Igkv6-32	C	T	6: 70,051,063 (GRCm39)	V98M	possibly damaging	Het
Il31ra	A	G	13: 112,662,372 (GRCm39)	F560S	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif2a	G	A	13: 107,116,049 (GRCm39)	T299I	probably damaging	Het
Leo1	T	A	9: 75,373,544 (GRCm39)	Y656*	probably null	Het
Lpcat2	T	A	8: 93,635,864 (GRCm39)	V422D	probably damaging	Het
Lrrcc1	T	A	3: 14,601,084 (GRCm39)	S39T	probably benign	Het
Macf1	A	T	4: 123,405,869 (GRCm39)	S341T	probably benign	Het
Mc2r	T	A	18: 68,540,879 (GRCm39)	Y138F	probably damaging	Het
Mepe	A	G	5: 104,485,754 (GRCm39)	N298S	possibly damaging	Het
Mmp15	C	A	8: 96,092,982 (GRCm39)	N120K	possibly damaging	Het
Mrps9	A	G	1: 42,918,915 (GRCm39)	R106G	probably damaging	Het
Muc16	T	A	9: 18,557,744 (GRCm39)	M2850L	unknown	Het
Mxra8	T	A	4: 155,927,122 (GRCm39)	I352N	probably damaging	Het
Myo16	G	A	8: 10,411,042 (GRCm39)	V167I	unknown	Het
Neb	T	C	2: 52,215,051 (GRCm39)	D209G	probably damaging	Het
Nlgn2	A	G	11: 69,716,309 (GRCm39)	V744A	probably benign	Het
Notch2	A	G	3: 98,029,218 (GRCm39)		probably null	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or14c42-ps1	A	T	7: 86,211,147 (GRCm39)	H69L	unknown	Het
Or5ak20	T	C	2: 85,183,953 (GRCm39)	T106A	probably benign	Het
Or5k16	G	A	16: 58,736,843 (GRCm39)	R54C	probably benign	Het
Or9k2b	T	C	10: 130,016,702 (GRCm39)	I16V	probably benign	Het
Oxa1l	A	G	14: 54,605,248 (GRCm39)		probably null	Het
Piwil4	T	C	9: 14,616,322 (GRCm39)	D15G		Het
Plcz1	C	A	6: 139,949,612 (GRCm39)	W461L	probably damaging	Het
Plek	A	T	11: 16,944,676 (GRCm39)	I118N	probably damaging	Het
Poc1b	C	A	10: 99,000,728 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,059,567 (GRCm39)	M64K	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Prss36	T	C	7: 127,532,635 (GRCm39)	T739A	possibly damaging	Het
Psme2	A	T	14: 55,827,074 (GRCm39)		probably null	Het
Ptprb	T	G	10: 116,203,495 (GRCm39)	V1802G	probably damaging	Het
Rabep2	C	A	7: 126,034,848 (GRCm39)	Y84*	probably null	Het
Rbbp6	T	G	7: 122,600,516 (GRCm39)	S1508A	unknown	Het
Rel	A	T	11: 23,692,430 (GRCm39)	D534E	probably benign	Het
Rpgrip1	G	A	14: 52,396,852 (GRCm39)	S1258N	probably damaging	Het
Rprml	T	C	11: 103,540,953 (GRCm39)	L116P	probably damaging	Het
Rsph10b	A	G	5: 143,887,112 (GRCm39)	T323A	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,099 (GRCm39)	H177R	probably damaging	Het
Sag	A	G	1: 87,738,032 (GRCm39)	T24A	probably benign	Het
Scgb2b26	G	T	7: 33,643,784 (GRCm39)	T52N	probably damaging	Het
Scn10a	T	C	9: 119,501,194 (GRCm39)	I197V	probably damaging	Het
Sec24c	T	A	14: 20,742,927 (GRCm39)	V1003D	possibly damaging	Het
Sirt2	G	A	7: 28,471,261 (GRCm39)	G30E	probably damaging	Het
Slc13a5	T	A	11: 72,149,919 (GRCm39)	Q197L	probably benign	Het
Slc44a3	A	T	3: 121,283,918 (GRCm39)	S445T	probably damaging	Het
Slc7a7	A	T	14: 54,610,449 (GRCm39)	V399E	probably benign	Het
Sorcs2	G	T	5: 36,196,657 (GRCm39)	Q663K	probably benign	Het
Stat4	A	G	1: 52,118,991 (GRCm39)	R345G	probably null	Het
Sycp2	G	A	2: 177,992,768 (GRCm39)	R1261C	probably damaging	Het
Tcf19	T	C	17: 35,825,381 (GRCm39)	I259V	probably benign	Het
Thada	T	A	17: 84,536,637 (GRCm39)	R1636S	probably benign	Het
Tnrc6c	T	C	11: 117,604,961 (GRCm39)	L32P	probably benign	Het
Tonsl	G	A	15: 76,517,076 (GRCm39)	T881I	probably benign	Het
Tonsl	A	C	15: 76,518,263 (GRCm39)	C570G	probably damaging	Het
Ube2o	C	A	11: 116,432,273 (GRCm39)	E898*	probably null	Het
Usp5	T	C	6: 124,794,394 (GRCm39)	H762R	possibly damaging	Het
Vmn2r15	A	G	5: 109,434,779 (GRCm39)	S642P	probably benign	Het
Vmn2r23	T	C	6: 123,690,431 (GRCm39)	W436R	probably damaging	Het
Vps13d	A	C	4: 144,811,977 (GRCm39)	I3343M		Het
Wbp11	T	C	6: 136,799,932 (GRCm39)	K83E	probably damaging	Het
Zfp26	T	A	9: 20,356,201 (GRCm39)	N36Y	possibly damaging	Het
Zfp57	T	A	17: 37,320,938 (GRCm39)	I264N	probably 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
R4928:Smarcad1	UTSW	6	65,051,898 (GRCm39)	missense	probably benign	0.06
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
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'- GAGTCATTAACTTTTCTTCTGCTTGT -3'
(R):5'- ACAGAAGAGACAGATGTTTTCAAAAT -3'

Sequencing Primer
(F):5'- ATTAACTTTTCTTCTGCTTGTTGAAC -3'
(R):5'- AGACAGATGTTTTCAAAATCAAGTTG -3'

Posted On

2021-03-08