Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Smarcad1'

691879

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

Accession Numbers

Essential gene?

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

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65019577-65093045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65075649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 708 (Q708R)

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: Q708R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031984
Gene: ENSMUSG00000029920
AA Change: Q708R

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,023,108 (GRCm39)	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,457,912 (GRCm39)	A14V	probably benign	Het
Adra2b	A	G	2: 127,205,858 (GRCm39)	Y125C	probably damaging	Het
Ahnak	T	A	19: 8,987,711 (GRCm39)	H2998Q	probably benign	Het
B3galt1	C	A	2: 67,948,406 (GRCm39)	H40Q	probably benign	Het
Best3	T	G	10: 116,860,680 (GRCm39)	L647V	probably benign	Het
Brip1	T	A	11: 86,077,897 (GRCm39)	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,409,109 (GRCm39)	D246G	probably benign	Het
C4b	G	A	17: 34,948,233 (GRCm39)	T1622M	probably benign	Het
Catip	G	A	1: 74,401,682 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,348,982 (GRCm39)	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,526,879 (GRCm39)	H243R	probably damaging	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Copz2	G	A	11: 96,747,514 (GRCm39)	D166N	possibly damaging	Het
Dedd	C	T	1: 171,168,572 (GRCm39)	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,497,713 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,339,484 (GRCm39)	S348T	probably damaging	Het
Eci3	A	G	13: 35,144,382 (GRCm39)		probably null	Het
Egr4	A	G	6: 85,490,337 (GRCm39)	S15P	probably benign	Het
Elp6	A	G	9: 110,134,397 (GRCm39)	T12A	probably benign	Het
Ewsr1	G	T	11: 5,041,367 (GRCm39)	P113T	unknown	Het
Exosc10	T	G	4: 148,664,859 (GRCm39)	L789R	probably benign	Het
Flt4	A	G	11: 49,525,161 (GRCm39)	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,836,517 (GRCm39)	F333I	probably damaging	Het
Frs2	G	T	10: 116,910,070 (GRCm39)	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm19410	T	C	8: 36,247,621 (GRCm39)	Y478H	probably damaging	Het
Gm3629	G	A	14: 17,834,542 (GRCm39)	R150C		Het
Grik4	A	C	9: 42,571,168 (GRCm39)	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,730,941 (GRCm39)		probably null	Het
Il20ra	T	A	10: 19,635,364 (GRCm39)	M535K	probably benign	Het
Il9	A	G	13: 56,628,401 (GRCm39)	V96A	possibly damaging	Het
Itgal	A	G	7: 126,910,794 (GRCm39)	D592G	probably damaging	Het
Klk1b11	C	T	7: 43,427,875 (GRCm39)		probably benign	Het
Klk1b27	G	A	7: 43,705,310 (GRCm39)	W159*	probably null	Het
Mapk9	T	C	11: 49,760,000 (GRCm39)	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,947 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,286,224 (GRCm39)	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,566,724 (GRCm39)	N131D	unknown	Het
Nbea	A	C	3: 55,862,809 (GRCm39)	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Or1j8	T	C	2: 36,191,956 (GRCm39)	V135A		Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or8g27	G	A	9: 39,128,831 (GRCm39)	M59I	probably damaging	Het
Pbx3	C	A	2: 34,114,629 (GRCm39)	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,320,492 (GRCm39)	V44I	probably benign	Het
Pkdcc	G	A	17: 83,528,471 (GRCm39)	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,638,264 (GRCm39)	E178G	probably benign	Het
Prom1	C	T	5: 44,172,161 (GRCm39)	S619N	probably benign	Het
Prtg	A	C	9: 72,755,607 (GRCm39)	I270L	probably damaging	Het
Rfx6	A	T	10: 51,599,106 (GRCm39)	H487L	probably damaging	Het
Rpl18a	A	C	8: 71,348,788 (GRCm39)	Y63D	probably benign	Het
Rtl1	T	A	12: 109,560,718 (GRCm39)	M374L	probably benign	Het
Scaper	A	G	9: 55,819,400 (GRCm39)	L105P	unknown	Het
Slc16a13	T	A	11: 70,111,530 (GRCm39)		probably benign	Het
Slc6a13	A	G	6: 121,313,044 (GRCm39)	K487R	probably benign	Het
Slc7a11	T	A	3: 50,332,082 (GRCm39)	T459S	probably benign	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Syde1	T	C	10: 78,421,670 (GRCm39)	H627R	probably benign	Het
Tas2r113	G	A	6: 132,870,116 (GRCm39)	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,038,626 (GRCm39)	Y690C	probably damaging	Het
Tchh	A	T	3: 93,354,610 (GRCm39)	H1350L	unknown	Het
Tex15	T	A	8: 34,060,950 (GRCm39)	Y127N	possibly damaging	Het
Thsd4	T	C	9: 59,964,179 (GRCm39)	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,015,099 (GRCm39)	D216G	probably benign	Het
Tyk2	T	C	9: 21,026,762 (GRCm39)	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,743,217 (GRCm39)		probably null	Het
Uvssa	A	C	5: 33,571,404 (GRCm39)	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,457,166 (GRCm39)	M198K	probably benign	Het
Zfp772	T	A	7: 7,207,190 (GRCm39)	H167L	possibly 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
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
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'- TATCCACGGCCATGAGTTTAAC -3'
(R):5'- AGCTCAATCCGATCCTTCTTGG -3'

Sequencing Primer
(F):5'- TACCATTATGTAGGAGAAAAGCCC -3'
(R):5'- AATCCGATCCTTCTTGGGAGGC -3'

Posted On

2021-12-30