Mutagenetix > Incidental Mutation

Incidental Mutation 'RF007:Smarcd3'

602880

Institutional Source

Beutler Lab

Gene Symbol

Smarcd3

Ensembl Gene

ENSMUSG00000028949

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3

Synonyms

2210409C08Rik, BAF60C, 1500001J14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24797620-24829649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24801068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 113 (R113L)

Ref Sequence

ENSEMBL: ENSMUSP00000030791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030791] [ENSMUST00000088295] [ENSMUST00000121863] [ENSMUST00000195943] [ENSMUST00000197318]

AlphaFold

Q6P9Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030791
AA Change: R113L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949
AA Change: R113L

Domain	Start	End	E-Value	Type
low complexity region	40	55	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
Blast:KISc	103	239	5e-41	BLAST
SWIB	259	338	3.6e-29	SMART
Blast:MYSc	420	466	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000088295

SMART Domains

Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	1.7e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121863

SMART Domains

Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	143	298	3.2e-11	PFAM
Pfam:CHGN	242	755	3e-176	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195943
AA Change: R84L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949
AA Change: R84L

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:KISc	74	210	2e-41	BLAST
SWIB	230	309	2.3e-31	SMART
Blast:MYSc	391	437	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000197318

SMART Domains

Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181

Domain	Start	End	E-Value	Type
Pfam:CHGN	1	74	7.5e-22	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,661,401 (GRCm39)	S933T	probably benign	Het
Adgrl2	G	A	3: 148,544,884 (GRCm39)	T737I	probably damaging	Het
Adra2c	T	A	5: 35,438,386 (GRCm39)	V386E	probably damaging	Het
Agbl5	C	A	5: 31,060,589 (GRCm39)	T761N	unknown	Het
Ahnak	T	A	19: 8,990,965 (GRCm39)	M4083K	possibly damaging	Het
Aldh1l1	A	T	6: 90,575,241 (GRCm39)	I843F	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Arid1b	GCG	GCGCCG	17: 5,045,869 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,609 (GRCm39)		probably null	Het
Blm	C	CTCCTCCTCCTAG	7: 80,162,681 (GRCm39)		probably null	Het
Btg3	A	G	16: 78,129,836 (GRCm39)	*52W	probably null	Het
Cc2d1a	T	C	8: 84,861,298 (GRCm39)	T796A	probably damaging	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Cenpj	A	G	14: 56,767,505 (GRCm39)		probably null	Het
Cfap251	G	GGAT	5: 123,392,317 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,760,578 (GRCm39)	T2108A	possibly damaging	Het
Cherp	TGGAGCG	T	8: 73,215,903 (GRCm39)		probably benign	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cntnap5b	T	C	1: 100,091,795 (GRCm39)	C179R	probably damaging	Het
Cntrl	T	A	2: 35,060,512 (GRCm39)	N1901K	probably benign	Het
Coil	CTGG	C	11: 88,872,656 (GRCm39)		probably benign	Het
Col1a1	A	G	11: 94,833,866 (GRCm39)	D488G	probably damaging	Het
Coro1a	T	C	7: 126,301,024 (GRCm39)	H130R	probably damaging	Het
Crybg3	A	C	16: 59,377,067 (GRCm39)	S1396A	possibly damaging	Het
Csf2rb2	A	G	15: 78,176,126 (GRCm39)	I259T	probably benign	Het
Cyp1a2	G	T	9: 57,589,253 (GRCm39)	P187Q	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,892,525 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,458,726 (GRCm39)	E103G	possibly damaging	Het
Dmkn	T	A	7: 30,469,129 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,802,474 (GRCm39)	L864P	probably damaging	Het
Dnah14	T	A	1: 181,513,374 (GRCm39)	M1909K	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Efna5	T	C	17: 62,920,389 (GRCm39)	S163G	probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ercc4	C	T	16: 12,941,371 (GRCm39)	S253L	possibly damaging	Het
Flywch1	ACCCA	ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA	17: 23,981,138 (GRCm39)		probably null	Het
Flywch1	CCTGGTGT	CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT	17: 23,981,145 (GRCm39)		probably null	Het
Folh1	T	C	7: 86,424,895 (GRCm39)	T25A	probably benign	Het
Foxi3	C	A	6: 70,937,845 (GRCm39)	T359K	possibly damaging	Het
Gab3	TTC	TTCATC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gba2	G	T	4: 43,569,894 (GRCm39)	L440M	probably damaging	Het
Gm14412	T	A	2: 177,007,494 (GRCm39)	N134Y	possibly damaging	Het
Gpr88	A	G	3: 116,046,018 (GRCm39)	S98P	probably benign	Het
Il1r1	A	G	1: 40,352,438 (GRCm39)	Y539C	probably damaging	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Lce1m	CTGCT	CTGCTTCCACTGTTGCT	3: 92,925,451 (GRCm39)		probably benign	Het
Lkaaear1	T	TATCTCCAGCTCC	2: 181,339,352 (GRCm39)		probably benign	Het
Lkaaear1	CAGCTCCAGCTCCAGCTCCAGCTC	CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC	2: 181,339,370 (GRCm39)		probably benign	Het
Ltb4r1	T	A	14: 56,005,426 (GRCm39)	L243Q	possibly damaging	Het
Man2a1	T	A	17: 65,019,248 (GRCm39)	V704D	probably damaging	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA	2: 121,136,789 (GRCm39)		probably benign	Het
Mcu	G	T	10: 59,326,938 (GRCm39)	A63E	probably benign	Het
Mrps31	A	T	8: 22,909,880 (GRCm39)	D182V	possibly damaging	Het
Mslnl	T	A	17: 25,962,202 (GRCm39)	V200E	possibly damaging	Het
Naip1	A	T	13: 100,562,642 (GRCm39)	M841K	probably benign	Het
Ndufab1	T	C	7: 121,695,861 (GRCm39)	K88E	possibly damaging	Het
Nlrp5	A	C	7: 23,117,586 (GRCm39)	I437L	probably benign	Het
Nnt	C	T	13: 119,533,393 (GRCm39)	V91M	probably damaging	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGA	TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,062 (GRCm39)		probably benign	Het
Nynrin	T	G	14: 56,103,658 (GRCm39)		probably null	Het
Or12k5	T	G	2: 36,895,186 (GRCm39)	T147P	probably damaging	Het
Or5ak22	C	A	2: 85,230,137 (GRCm39)	A247S	probably damaging	Het
Or6c204	T	A	10: 129,022,562 (GRCm39)	I243F	probably damaging	Het
Osbpl8	A	G	10: 111,112,328 (GRCm39)	K481R	possibly damaging	Het
Padi6	T	C	4: 140,457,054 (GRCm39)	D540G	probably damaging	Het
Pcmtd1	T	C	1: 7,225,329 (GRCm39)		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGGTTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Het
Phospho1	T	C	11: 95,721,881 (GRCm39)	Y184H	probably damaging	Het
Pi4ka	T	A	16: 17,115,097 (GRCm39)	R1431W		Het
Plxdc1	T	A	11: 97,869,504 (GRCm39)	H28L	probably benign	Het
Pnma8a	ACCTCATGATGCACCTGCTTCAACA	ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,695,349 (GRCm39)		probably benign	Het
Ppp1r7	T	C	1: 93,274,011 (GRCm39)		probably null	Het
Ppp1r9a	T	A	6: 4,906,657 (GRCm39)	V404E	probably damaging	Het
Scfd1	T	A	12: 51,469,756 (GRCm39)	S434T	probably benign	Het
Six5	A	G	7: 18,828,862 (GRCm39)	S101G	probably benign	Het
Slc6a4	C	A	11: 76,910,008 (GRCm39)	T421K	probably damaging	Het
Son	T	A	16: 91,456,257 (GRCm39)	M1668K	possibly damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Tcf25	A	G	8: 124,122,369 (GRCm39)	D434G	probably benign	Het
Tcof1	CCAGAGATCCCC	CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC	18: 60,966,640 (GRCm39)		probably benign	Het
Tep1	A	G	14: 51,098,402 (GRCm39)	V463A	possibly damaging	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim24	A	G	6: 37,930,471 (GRCm39)	K642E	possibly damaging	Het
Trim33	GGCCCCCGC	GGC	3: 103,187,533 (GRCm39)		probably benign	Het
Triobp	CTCCCTGTGCCCAACGG	CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG	15: 78,851,244 (GRCm39)		probably benign	Het
Trmu	G	T	15: 85,776,770 (GRCm39)	V161L	possibly damaging	Het
Try4	T	A	6: 41,282,297 (GRCm39)	C206S	probably damaging	Het
Usp2	TTCACTTAC	TTCACTTACTCATGTGACCTGTTCGTCACTTAC	9: 44,000,418 (GRCm39)		probably benign	Het
Vmn1r62	A	T	7: 5,678,669 (GRCm39)	M117L	probably benign	Het
Vmn2r104	A	T	17: 20,268,302 (GRCm39)	Y56N	probably benign	Het
Xxylt1	C	T	16: 30,869,498 (GRCm39)	D201N	possibly damaging	Het
Zfp563	T	A	17: 33,323,999 (GRCm39)	I198K	probably benign	Het
Zfp612	T	A	8: 110,816,174 (GRCm39)	C460*	probably null	Het
Zfp691	G	A	4: 119,027,932 (GRCm39)	T100M	probably benign	Het
Zfp773	A	T	7: 7,135,689 (GRCm39)	C302*	probably null	Het
Zmat2	A	G	18: 36,930,936 (GRCm39)	E154G	probably damaging	Het
Zw10	T	A	9: 48,972,220 (GRCm39)	I132N	possibly damaging	Het

Other mutations in Smarcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Smarcd3	APN	5	24,798,717 (GRCm39)	missense	probably damaging	1.00
R0135:Smarcd3	UTSW	5	24,800,497 (GRCm39)	unclassified	probably benign
R1614:Smarcd3	UTSW	5	24,799,874 (GRCm39)	missense	possibly damaging	0.93
R1617:Smarcd3	UTSW	5	24,800,192 (GRCm39)	missense	probably damaging	1.00
R1753:Smarcd3	UTSW	5	24,800,820 (GRCm39)	nonsense	probably null
R1879:Smarcd3	UTSW	5	24,798,019 (GRCm39)	missense	probably damaging	0.99
R2307:Smarcd3	UTSW	5	24,800,746 (GRCm39)	missense	probably damaging	1.00
R3800:Smarcd3	UTSW	5	24,798,225 (GRCm39)	nonsense	probably null
R4592:Smarcd3	UTSW	5	24,797,802 (GRCm39)	missense	probably benign	0.00
R6369:Smarcd3	UTSW	5	24,799,982 (GRCm39)	missense	probably damaging	0.99
R6388:Smarcd3	UTSW	5	24,801,024 (GRCm39)	missense	possibly damaging	0.94
R7077:Smarcd3	UTSW	5	24,799,960 (GRCm39)	missense	probably damaging	1.00
R7078:Smarcd3	UTSW	5	24,798,067 (GRCm39)	missense	probably damaging	0.98
R7341:Smarcd3	UTSW	5	24,800,435 (GRCm39)	missense	possibly damaging	0.95
R7426:Smarcd3	UTSW	5	24,800,810 (GRCm39)	missense	probably benign	0.30
R7806:Smarcd3	UTSW	5	24,798,260 (GRCm39)	missense	probably benign	0.45
R7935:Smarcd3	UTSW	5	24,801,024 (GRCm39)	missense	probably damaging	0.98
R8685:Smarcd3	UTSW	5	24,800,988 (GRCm39)	missense	probably damaging	1.00
R8769:Smarcd3	UTSW	5	24,803,792 (GRCm39)	missense	probably benign
R8877:Smarcd3	UTSW	5	24,798,990 (GRCm39)	missense	possibly damaging	0.93
R8984:Smarcd3	UTSW	5	24,798,986 (GRCm39)	missense	probably null	0.99
R9240:Smarcd3	UTSW	5	24,801,831 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TACAGGACAAGGGCTGTGTC -3'
(R):5'- GGAGAAGCAATTCTATCCGCAC -3'

Sequencing Primer
(F):5'- AAGGGCTGTGTCCTCCGAC -3'
(R):5'- CGCACACAATGAGGCTATATAATAAG -3'

Posted On

2019-12-04