Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Smarcad1'

212452

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

038652-MU

Accession Numbers

Essential gene?

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

Stock #

R0452 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65019577-65093045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65051806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 313 (N313I)

Ref Sequence

ENSEMBL: ENSMUSP00000031984 (fasta)

Gene Model

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

AlphaFold

Q04692

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031984
AA Change: N313I

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: N313I

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

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	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
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
R8679:Smarcad1	UTSW	6	65,088,865 (GRCm39)	missense	probably benign	0.03
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'- ATCCTCAGGAGGCTTGCTTAGGAG -3'
(R):5'- ACAGGAGAAGGCCACCCATCTATG -3'

Sequencing Primer
(F):5'- AGGTGCCATGTACTTTTGAAATGTC -3'
(R):5'- acacacagacacagacacac -3'

Posted On

2014-07-02