Mutagenetix > Incidental Mutations

Incidental Mutation 'R1583:Smarcc1'

177260

Institutional Source

Beutler Lab

Gene Symbol

Smarcc1

Ensembl Gene

ENSMUSG00000032481

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

Synonyms

BAF155, SRG3

MMRRC Submission

039620-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110117708-110240178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110213617 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 918 (T918A)

Ref Sequence

ENSEMBL: ENSMUSP00000142611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000197984] [ENSMUST00000199896]

Predicted Effect

probably damaging
Transcript: ENSMUST00000088716
AA Change: T918A

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

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: T918A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.7e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	9.6e-35	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	2.5e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC
low complexity region	1075	1104	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197984
AA Change: T918A

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

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: T918A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	448	536	1.4e-35	PFAM
SANT	618	666	4.52e-12	SMART
low complexity region	710	717	N/A	INTRINSIC
low complexity region	723	734	N/A	INTRINSIC
low complexity region	768	781	N/A	INTRINSIC
low complexity region	830	839	N/A	INTRINSIC
low complexity region	866	885	N/A	INTRINSIC
coiled coil region	909	945	N/A	INTRINSIC
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199896
AA Change: T918A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: T918A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.5e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	1.4e-34	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	1.4e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200237

Meta Mutation Damage Score

0.0999

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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 contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110221937	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	110139625	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	110135666	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	110149965	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110222060	nonsense	probably null
IGL01679:Smarcc1	APN	9	110213530	missense	probably damaging	1.00
IGL02458:Smarcc1	APN	9	110132126	intron	probably benign
IGL02498:Smarcc1	APN	9	110190934	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110222000	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110206100	missense	probably damaging	0.97
IGL03284:Smarcc1	APN	9	110175074	missense	probably benign	0.30
R0116:Smarcc1	UTSW	9	110147104	missense	possibly damaging	0.71
R0403:Smarcc1	UTSW	9	110237808	splice site	probably null
R1436:Smarcc1	UTSW	9	110118640	unclassified	probably benign
R1692:Smarcc1	UTSW	9	110174004	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110185820	splice site	probably benign
R1833:Smarcc1	UTSW	9	110153811	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110175099	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	110118343	unclassified	probably benign
R2175:Smarcc1	UTSW	9	110164809	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110237839	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110173975	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R3900:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R4012:Smarcc1	UTSW	9	110132205	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	110164829	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110196256	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	110135628	start gained	probably benign
R4993:Smarcc1	UTSW	9	110175061	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110197784	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110190949	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	110157344	missense	probably null	1.00
R5715:Smarcc1	UTSW	9	110196367	missense	possibly damaging	0.95
R5767:Smarcc1	UTSW	9	110132183	intron	probably benign
R5816:Smarcc1	UTSW	9	110197644	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110196320	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110185884	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	110150014	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	110147116	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110204266	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110202534	missense	probably benign
R8695:Smarcc1	UTSW	9	110173904	missense	probably damaging	0.98
T0722:Smarcc1	UTSW	9	110206085	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACTATACGTTGGTTCCATAgtgtggaga -3'
(R):5'- GCGACAGAGATACAGTCAAAGGTCAAAT -3'

Sequencing Primer
(F):5'- gtacctttacccactgagcc -3'
(R):5'- aaacaggaaaatcaagaatagaggg -3'

Posted On

2014-04-24