Mutagenetix > Incidental Mutation

Incidental Mutation 'R8695:Smarcc1'

668631

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, msp3

MMRRC Submission

068549-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8695 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109961129-110069773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110002972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 354 (R354H)

Ref Sequence

ENSEMBL: ENSMUSP00000086094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000197480] [ENSMUST00000197984] [ENSMUST00000199896]

AlphaFold

P97496

Predicted Effect

probably damaging
Transcript: ENSMUST00000088716
AA Change: R354H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: R354H

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

possibly damaging
Transcript: ENSMUST00000197480
AA Change: R354H

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142629
Gene: ENSMUSG00000032481
AA Change: R354H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197984
AA Change: R354H

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: R354H

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

possibly damaging
Transcript: ENSMUST00000199896
AA Change: R354H

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: R354H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	A	G	8: 86,138,870 (GRCm39)	I73T	probably benign	Het
4930556J24Rik	A	G	11: 3,926,192 (GRCm39)		probably benign	Het
Ace	A	G	11: 105,875,971 (GRCm39)	T1010A	probably benign	Het
Adam20	A	T	8: 41,248,865 (GRCm39)	Y325F	probably benign	Het
Aff4	A	C	11: 53,259,509 (GRCm39)	N7H	probably damaging	Het
Apob	A	T	12: 8,057,830 (GRCm39)	D2104V	probably damaging	Het
Asap3	T	C	4: 135,965,722 (GRCm39)	S411P	probably benign	Het
Atxn1l	C	T	8: 110,458,462 (GRCm39)	G600D	probably damaging	Het
Brd3	A	T	2: 27,352,558 (GRCm39)	M124K	probably benign	Het
Bsx	A	G	9: 40,785,484 (GRCm39)	N4S	probably damaging	Het
Ccdc125	T	C	13: 100,814,552 (GRCm39)	I44T	probably benign	Het
Ccdc141	G	A	2: 76,879,963 (GRCm39)	T620I	probably benign	Het
Ccdc178	T	A	18: 22,157,809 (GRCm39)	I550F	probably benign	Het
Ccdc77	G	T	6: 120,318,962 (GRCm39)	T163N	probably damaging	Het
Cd55	A	T	1: 130,380,273 (GRCm39)	I235K	probably benign	Het
Cdc123	A	T	2: 5,826,174 (GRCm39)	M118K	possibly damaging	Het
Cep192	A	T	18: 67,951,958 (GRCm39)	K378*	probably null	Het
Chd7	C	T	4: 8,850,812 (GRCm39)	R1733C	probably damaging	Het
Crybg2	A	T	4: 133,792,766 (GRCm39)	S134C	possibly damaging	Het
Cyp2d26	A	G	15: 82,676,907 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,299 (GRCm39)		probably null	Het
Dyrk2	A	T	10: 118,696,922 (GRCm39)	V112E	probably benign	Het
Eppk1	A	G	15: 75,994,598 (GRCm39)	L761P	probably benign	Het
Evpl	T	C	11: 116,114,489 (GRCm39)	K1067R	probably benign	Het
Fancm	C	A	12: 65,171,947 (GRCm39)	D1862E	probably damaging	Het
Fhl2	A	G	1: 43,167,571 (GRCm39)	V174A	probably damaging	Het
Gemin4	A	T	11: 76,102,656 (GRCm39)	C702S	probably damaging	Het
Ggnbp2	T	A	11: 84,760,767 (GRCm39)	D10V	possibly damaging	Het
Glul	T	C	1: 153,778,769 (GRCm39)	V26A	probably benign	Het
Gml2	A	G	15: 74,696,089 (GRCm39)	N161S	probably benign	Het
Gnao1	C	A	8: 94,682,795 (GRCm39)	T327K	probably damaging	Het
Gpr179	A	G	11: 97,227,124 (GRCm39)	V1677A	possibly damaging	Het
Greb1l	A	T	18: 10,544,450 (GRCm39)	H1348L	probably benign	Het
Grm8	T	C	6: 28,126,030 (GRCm39)	H32R	probably benign	Het
Hk2	T	A	6: 82,716,627 (GRCm39)	M302L	probably benign	Het
Hnrnpm	C	A	17: 33,877,884 (GRCm39)	M333I	probably benign	Het
Hsd3b1	A	G	3: 98,760,223 (GRCm39)	I256T	probably damaging	Het
Irx5	G	A	8: 93,087,327 (GRCm39)	G420R	probably damaging	Het
Krt87	A	G	15: 101,331,901 (GRCm39)	V279A	probably benign	Het
Lamb2	G	A	9: 108,363,365 (GRCm39)	S848N	probably benign	Het
Lypd10	A	T	7: 24,413,203 (GRCm39)	H174L	probably benign	Het
Mc1r	A	T	8: 124,135,116 (GRCm39)	T290S	probably benign	Het
Or10d4	A	T	9: 39,580,376 (GRCm39)	T8S	probably benign	Het
Or52n2c	A	T	7: 104,574,146 (GRCm39)	V275D	probably benign	Het
Or52z1	A	T	7: 103,436,729 (GRCm39)	C252S	possibly damaging	Het
Or6c202	T	A	10: 128,996,233 (GRCm39)	T207S	probably damaging	Het
Pex6	T	C	17: 47,022,975 (GRCm39)	S184P	probably damaging	Het
Pglyrp3	A	T	3: 91,933,762 (GRCm39)	S136C	probably null	Het
Pik3r1	A	G	13: 101,894,062 (GRCm39)	S36P	probably benign	Het
Pomt2	G	T	12: 87,156,790 (GRCm39)	T782K	probably benign	Het
Ppfibp2	A	G	7: 107,285,063 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,765,019 (GRCm39)	H587R	probably damaging	Het
Prp2	A	G	6: 132,576,932 (GRCm39)	Q73R	unknown	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rasal3	A	G	17: 32,611,736 (GRCm39)	F797S	possibly damaging	Het
Rsrp1	T	A	4: 134,652,610 (GRCm39)	M188K	probably damaging	Het
Senp8	A	G	9: 59,644,499 (GRCm39)	I219T	probably damaging	Het
Serpinb10	A	T	1: 107,468,630 (GRCm39)	N91I	probably damaging	Het
Skint4	C	T	4: 111,975,264 (GRCm39)	R75C	probably damaging	Het
Slc25a48	C	A	13: 56,612,825 (GRCm39)	A241E	probably damaging	Het
Slc39a6	C	A	18: 24,736,811 (GRCm39)		probably benign	Het
Spata21	G	C	4: 140,838,755 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,796,724 (GRCm39)	E1774G	possibly damaging	Het
Tep1	A	T	14: 51,082,894 (GRCm39)	F1038Y	possibly damaging	Het
Thbs2	T	A	17: 14,899,963 (GRCm39)	D638V	probably benign	Het
Tmem161a	G	T	8: 70,627,047 (GRCm39)	C33F	probably damaging	Het
Trim47	T	C	11: 116,000,926 (GRCm39)	S41G	probably benign	Het
Trim56	T	A	5: 137,143,429 (GRCm39)	H29L	probably benign	Het
Ugt2b35	T	A	5: 87,156,064 (GRCm39)	H385Q	probably damaging	Het
Ugt2b37	T	A	5: 87,390,243 (GRCm39)	H401L	probably benign	Het
Usp44	A	C	10: 93,682,365 (GRCm39)	T272P	probably damaging	Het
Usp46	C	T	5: 74,189,897 (GRCm39)	E156K	probably benign	Het
Vmn1r232	T	C	17: 21,134,109 (GRCm39)	K164E	probably benign	Het
Zan	T	A	5: 137,385,217 (GRCm39)	N5072I	unknown	Het
Zfp318	T	C	17: 46,723,576 (GRCm39)	S1860P	probably benign	Het
Zfp616	C	T	11: 73,975,710 (GRCm39)	R660W	probably benign	Het
Zfp870	C	T	17: 33,102,679 (GRCm39)	V217I	possibly damaging	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110,051,005 (GRCm39)	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	109,968,693 (GRCm39)	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	109,964,734 (GRCm39)	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	109,979,033 (GRCm39)	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110,051,128 (GRCm39)	nonsense	probably null
IGL01679:Smarcc1	APN	9	110,042,598 (GRCm39)	missense	probably damaging	1.00
IGL02458:Smarcc1	APN	9	109,961,194 (GRCm39)	intron	probably benign
IGL02498:Smarcc1	APN	9	110,020,002 (GRCm39)	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110,051,068 (GRCm39)	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110,035,168 (GRCm39)	missense	probably damaging	0.97
IGL03284:Smarcc1	APN	9	110,004,142 (GRCm39)	missense	probably benign	0.30
R0116:Smarcc1	UTSW	9	109,976,172 (GRCm39)	missense	possibly damaging	0.71
R0403:Smarcc1	UTSW	9	110,066,876 (GRCm39)	splice site	probably null
R1436:Smarcc1	UTSW	9	109,947,708 (GRCm39)	unclassified	probably benign
R1583:Smarcc1	UTSW	9	110,042,685 (GRCm39)	missense	probably damaging	1.00
R1692:Smarcc1	UTSW	9	110,003,072 (GRCm39)	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110,014,888 (GRCm39)	splice site	probably benign
R1833:Smarcc1	UTSW	9	109,982,879 (GRCm39)	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110,004,167 (GRCm39)	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	109,947,411 (GRCm39)	unclassified	probably benign
R2175:Smarcc1	UTSW	9	109,993,877 (GRCm39)	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110,066,907 (GRCm39)	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110,003,043 (GRCm39)	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R3900:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R4012:Smarcc1	UTSW	9	109,961,273 (GRCm39)	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	109,993,897 (GRCm39)	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110,025,324 (GRCm39)	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	109,964,696 (GRCm39)	start gained	probably benign
R4993:Smarcc1	UTSW	9	110,004,129 (GRCm39)	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110,026,852 (GRCm39)	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110,020,017 (GRCm39)	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	109,986,412 (GRCm39)	missense	probably null	1.00
R5715:Smarcc1	UTSW	9	110,025,435 (GRCm39)	missense	possibly damaging	0.95
R5767:Smarcc1	UTSW	9	109,961,251 (GRCm39)	intron	probably benign
R5816:Smarcc1	UTSW	9	110,026,712 (GRCm39)	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110,025,388 (GRCm39)	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110,014,952 (GRCm39)	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	109,979,082 (GRCm39)	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	109,976,184 (GRCm39)	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110,033,334 (GRCm39)	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110,031,602 (GRCm39)	missense	probably benign
R8842:Smarcc1	UTSW	9	110,051,199 (GRCm39)	missense	possibly damaging	0.60
R9024:Smarcc1	UTSW	9	110,015,001 (GRCm39)	missense	probably damaging	0.99
R9131:Smarcc1	UTSW	9	109,964,710 (GRCm39)	missense	possibly damaging	0.73
R9180:Smarcc1	UTSW	9	109,964,728 (GRCm39)	missense	probably damaging	1.00
R9279:Smarcc1	UTSW	9	109,996,792 (GRCm39)	missense	possibly damaging	0.69
R9352:Smarcc1	UTSW	9	110,035,220 (GRCm39)	missense	probably null	1.00
R9538:Smarcc1	UTSW	9	109,961,272 (GRCm39)	missense	probably benign	0.00
R9645:Smarcc1	UTSW	9	109,986,410 (GRCm39)	missense	probably damaging	1.00
T0722:Smarcc1	UTSW	9	110,035,153 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACTCCTCATATGAACAGTAGGATGAC -3'
(R):5'- CTGCATATTCAGAACATGACATCAC -3'

Sequencing Primer
(F):5'- CGTACTAATCACTTAGAGTTTGAGGC -3'
(R):5'- CATGACATCACTTGTTTTCATGGTG -3'

Posted On

2021-04-30