Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03493:Smarcc2'

490717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarcc2

Ensembl Gene

ENSMUSG00000025369

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2

Synonyms

5930405J04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

IGL03493

Quality Score

Status

Chromosome

Chromosomal Location

128295117-128326351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128297226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 39 (I39M)

Ref Sequence

ENSEMBL: ENSMUSP00000151333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]

AlphaFold

Q6PDG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026433
AA Change: I39M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: I39M

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	4.9e-38	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
low complexity region	768	816	N/A	INTRINSIC
low complexity region	861	879	N/A	INTRINSIC
coiled coil region	906	921	N/A	INTRINSIC
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1074	1098	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099131
AA Change: I39M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: I39M

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	3.9e-38	PFAM
SANT	628	676	9.04e-12	SMART
low complexity region	799	847	N/A	INTRINSIC
low complexity region	892	910	N/A	INTRINSIC
coiled coil region	937	952	N/A	INTRINSIC
low complexity region	979	1013	N/A	INTRINSIC
low complexity region	1016	1041	N/A	INTRINSIC
low complexity region	1043	1093	N/A	INTRINSIC
low complexity region	1105	1129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105235
AA Change: I39M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: I39M

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	426	512	4.5e-35	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
Pfam:SWIRM-assoc_3	684	750	4.1e-34	PFAM
low complexity region	768	816	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	863	946	1.5e-34	PFAM
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
low complexity region	1108	1123	N/A	INTRINSIC
low complexity region	1153	1177	N/A	INTRINSIC
low complexity region	1184	1212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184718

Predicted Effect

probably damaging
Transcript: ENSMUST00000218228
AA Change: I39M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220384

Coding Region Coverage

Validation Efficiency

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart1	G	A	4: 72,769,884 (GRCm39)	T253I	probably damaging	Het
Ampd2	T	C	3: 107,982,674 (GRCm39)	E694G	probably damaging	Het
Atcay	C	A	10: 81,046,407 (GRCm39)	E306*	probably null	Het
Atp13a5	G	T	16: 29,116,342 (GRCm39)	D546E	probably benign	Het
C2cd2	T	C	16: 97,682,861 (GRCm39)	D125G	probably damaging	Het
Col23a1	T	C	11: 51,455,632 (GRCm39)		probably null	Het
Col9a1	T	A	1: 24,260,651 (GRCm39)		probably benign	Het
Cyp4a31	T	A	4: 115,427,952 (GRCm39)		probably null	Het
Dnah11	G	A	12: 117,976,533 (GRCm39)	R2708C	probably benign	Het
Dzip3	T	C	16: 48,772,059 (GRCm39)	I537V	probably benign	Het
Ezh1	T	C	11: 101,094,617 (GRCm39)	T392A	probably benign	Het
Hsd17b14	A	T	7: 45,205,515 (GRCm39)	D42V	probably damaging	Het
Hsf2	A	T	10: 57,381,462 (GRCm39)	I294F	probably damaging	Het
Ibtk	G	T	9: 85,600,972 (GRCm39)	S797R	probably benign	Het
Kif20b	T	A	19: 34,936,950 (GRCm39)	C183*	probably null	Het
Lnpep	G	T	17: 17,799,433 (GRCm39)	A74E	probably damaging	Het
Map4k1	A	T	7: 28,683,576 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,677,309 (GRCm39)	R173G	probably benign	Het
Nyap1	A	G	5: 137,733,278 (GRCm39)	I585T	probably damaging	Het
Or13a27	A	T	7: 139,925,066 (GRCm39)	Y279N	probably damaging	Het
Or52e7	A	G	7: 104,685,151 (GRCm39)	T249A	probably damaging	Het
Or5d39	G	A	2: 87,980,280 (GRCm39)	P28S	probably benign	Het
Phactr2	A	G	10: 13,133,413 (GRCm39)	V190A	probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Rad51c	A	T	11: 87,288,579 (GRCm39)	H201Q	probably benign	Het
Sec63	C	A	10: 42,704,937 (GRCm39)	D730E	probably benign	Het
Trav2	A	G	14: 52,804,745 (GRCm39)		probably benign	Het
Ugt3a1	A	G	15: 9,361,569 (GRCm39)	Y115C	probably damaging	Het
Zfp955b	T	G	17: 33,521,519 (GRCm39)	H329Q	probably benign	Het

Other mutations in Smarcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Smarcc2	APN	10	128,298,924 (GRCm39)	missense	probably damaging	0.97
IGL01450:Smarcc2	APN	10	128,305,189 (GRCm39)	missense	probably damaging	1.00
IGL01638:Smarcc2	APN	10	128,323,943 (GRCm39)	unclassified	probably benign
IGL01663:Smarcc2	APN	10	128,324,846 (GRCm39)	unclassified	probably benign
IGL02308:Smarcc2	APN	10	128,318,641 (GRCm39)	missense	probably damaging	1.00
IGL02511:Smarcc2	APN	10	128,297,251 (GRCm39)	missense	probably damaging	1.00
IGL02633:Smarcc2	APN	10	128,305,556 (GRCm39)	missense	probably damaging	1.00
IGL03375:Smarcc2	APN	10	128,318,781 (GRCm39)	missense	probably damaging	0.99
PIT4403001:Smarcc2	UTSW	10	128,298,893 (GRCm39)	missense	probably damaging	1.00
R0220:Smarcc2	UTSW	10	128,319,505 (GRCm39)	missense	probably benign	0.32
R0281:Smarcc2	UTSW	10	128,310,591 (GRCm39)	missense	probably benign	0.20
R1299:Smarcc2	UTSW	10	128,297,247 (GRCm39)	missense	probably damaging	1.00
R1447:Smarcc2	UTSW	10	128,305,660 (GRCm39)	critical splice donor site	probably null
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1498:Smarcc2	UTSW	10	128,318,061 (GRCm39)	missense	probably benign	0.02
R1499:Smarcc2	UTSW	10	128,299,741 (GRCm39)	missense	probably damaging	0.99
R1616:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R1718:Smarcc2	UTSW	10	128,304,867 (GRCm39)	intron	probably benign
R1767:Smarcc2	UTSW	10	128,304,951 (GRCm39)	missense	possibly damaging	0.92
R1792:Smarcc2	UTSW	10	128,299,740 (GRCm39)	missense	probably damaging	1.00
R1965:Smarcc2	UTSW	10	128,310,627 (GRCm39)	missense	probably damaging	1.00
R2229:Smarcc2	UTSW	10	128,324,210 (GRCm39)	unclassified	probably benign
R2286:Smarcc2	UTSW	10	128,299,612 (GRCm39)	missense	possibly damaging	0.58
R2367:Smarcc2	UTSW	10	128,318,036 (GRCm39)	missense	possibly damaging	0.86
R2398:Smarcc2	UTSW	10	128,305,551 (GRCm39)	missense	possibly damaging	0.92
R3084:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3085:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3777:Smarcc2	UTSW	10	128,318,812 (GRCm39)	critical splice donor site	probably null
R4346:Smarcc2	UTSW	10	128,304,692 (GRCm39)	missense	probably benign	0.02
R4967:Smarcc2	UTSW	10	128,319,049 (GRCm39)	missense	probably damaging	0.99
R4992:Smarcc2	UTSW	10	128,310,579 (GRCm39)	missense	probably damaging	0.99
R5028:Smarcc2	UTSW	10	128,297,314 (GRCm39)	missense	probably damaging	0.99
R5071:Smarcc2	UTSW	10	128,299,809 (GRCm39)	missense	probably damaging	1.00
R5095:Smarcc2	UTSW	10	128,305,169 (GRCm39)	missense	probably damaging	0.99
R5133:Smarcc2	UTSW	10	128,297,342 (GRCm39)	critical splice donor site	probably null
R5180:Smarcc2	UTSW	10	128,323,231 (GRCm39)	unclassified	probably benign
R5231:Smarcc2	UTSW	10	128,297,221 (GRCm39)	missense	probably damaging	1.00
R5240:Smarcc2	UTSW	10	128,316,875 (GRCm39)	critical splice donor site	probably null
R5401:Smarcc2	UTSW	10	128,301,373 (GRCm39)	missense	probably damaging	1.00
R5445:Smarcc2	UTSW	10	128,323,943 (GRCm39)	unclassified	probably benign
R5690:Smarcc2	UTSW	10	128,320,276 (GRCm39)	missense	probably damaging	1.00
R5694:Smarcc2	UTSW	10	128,319,996 (GRCm39)	missense	probably benign
R6240:Smarcc2	UTSW	10	128,323,893 (GRCm39)	unclassified	probably benign
R6545:Smarcc2	UTSW	10	128,319,997 (GRCm39)	missense	probably benign	0.00
R6713:Smarcc2	UTSW	10	128,323,638 (GRCm39)	splice site	probably null
R6934:Smarcc2	UTSW	10	128,305,541 (GRCm39)	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128,321,198 (GRCm39)	splice site	probably null
R7149:Smarcc2	UTSW	10	128,318,598 (GRCm39)	missense	probably damaging	1.00
R7229:Smarcc2	UTSW	10	128,323,917 (GRCm39)	missense	unknown
R7395:Smarcc2	UTSW	10	128,321,475 (GRCm39)	missense	probably damaging	1.00
R7596:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R7722:Smarcc2	UTSW	10	128,317,597 (GRCm39)	missense	possibly damaging	0.72
R8407:Smarcc2	UTSW	10	128,318,190 (GRCm39)	missense	probably damaging	1.00
R8468:Smarcc2	UTSW	10	128,320,262 (GRCm39)	missense	probably benign	0.00
R8753:Smarcc2	UTSW	10	128,319,070 (GRCm39)	missense	probably damaging	1.00
R9023:Smarcc2	UTSW	10	128,301,093 (GRCm39)	missense	probably damaging	0.98
R9325:Smarcc2	UTSW	10	128,324,076 (GRCm39)	missense	unknown
R9327:Smarcc2	UTSW	10	128,321,486 (GRCm39)	missense	probably damaging	1.00
R9331:Smarcc2	UTSW	10	128,323,310 (GRCm39)	missense	unknown
R9686:Smarcc2	UTSW	10	128,316,775 (GRCm39)	missense	probably damaging	1.00
R9742:Smarcc2	UTSW	10	128,297,222 (GRCm39)	missense	probably damaging	1.00
Z1088:Smarcc2	UTSW	10	128,297,303 (GRCm39)	missense	probably damaging	1.00

Posted On

2017-10-20