Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01138:Smarca5'

51819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarca5

Ensembl Gene

ENSMUSG00000031715

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

Synonyms

D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

80698507-80739497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80701076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1048 (K1048M)

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043359]

AlphaFold

Q91ZW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043359
AA Change: K1048M

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: K1048M

Domain	Start	End	E-Value	Type
low complexity region	2	53	N/A	INTRINSIC
Pfam:DBINO	65	112	1.1e-4	PFAM
low complexity region	145	156	N/A	INTRINSIC
DEXDc	175	367	3.9e-46	SMART
Blast:DEXDc	386	421	6e-11	BLAST
HELICc	512	596	6.2e-28	SMART
low complexity region	756	768	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
SANT	840	889	2.3e-7	SMART
SANT	942	1006	3e-7	SMART
low complexity region	1008	1024	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122807

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. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 60,854,859	V27A	probably benign	Het
Abcg5	T	A	17: 84,664,847	R499S	possibly damaging	Het
Adamts13	T	C	2: 26,983,042	S341P	probably damaging	Het
Adgrg1	T	A	8: 95,003,457	C96S	probably damaging	Het
Arhgap44	A	G	11: 65,041,449	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,184,170	F400L	probably damaging	Het
Baz1a	T	C	12: 54,930,325	E384G	probably damaging	Het
Col12a1	T	C	9: 79,678,053	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,807,510	I806F	probably damaging	Het
Coro1c	G	A	5: 113,852,161		probably benign	Het
CT030661.1	G	A	17: 22,202,668		probably benign	Het
Dnmt3b	A	T	2: 153,661,441	D4V	probably benign	Het
Ermn	G	T	2: 58,052,695	L8M	possibly damaging	Het
F13b	T	A	1: 139,517,212	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,202,620	V93A	possibly damaging	Het
Fam84b	T	A	15: 60,823,118	I260F	probably damaging	Het
Gpr107	T	A	2: 31,172,016	L152Q	probably benign	Het
Guca1a	C	A	17: 47,400,384	E12D	probably damaging	Het
Igtp	A	G	11: 58,206,144	N47S	possibly damaging	Het
Lrrc8e	A	G	8: 4,234,084	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,180,699	L68P	probably damaging	Het
Maml3	A	G	3: 51,690,558	S902P	possibly damaging	Het
Mkln1	A	T	6: 31,432,990	N188Y	probably damaging	Het
Mlxip	C	T	5: 123,450,156	R771W	probably damaging	Het
Myf6	T	C	10: 107,494,398	R103G	probably damaging	Het
Ncam2	T	A	16: 81,517,579	I481K	probably damaging	Het
Nrap	T	A	19: 56,355,538	S645C	probably damaging	Het
Nup205	G	T	6: 35,208,084	E813*	probably null	Het
Olfr157	A	G	4: 43,835,617	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,106,978	R410W	probably damaging	Het
Pnmal2	C	A	7: 16,945,163	T24K	unknown	Het
Polq	A	T	16: 37,045,869	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,848,811	S200P	probably damaging	Het
Rif1	C	A	2: 52,111,522	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,103,744	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,585,203	S806P	probably damaging	Het
Sirpa	T	C	2: 129,630,165	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,856,022	R246C	probably damaging	Het
Slc9a6	A	G	X: 56,623,431	D199G	probably damaging	Het
Sos2	C	T	12: 69,616,849		probably benign	Het
Trpm5	T	A	7: 143,074,569	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,382,623	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,770		probably benign	Het

Other mutations in Smarca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Smarca5	APN	8	80714041	missense	probably benign	0.10
IGL01290:Smarca5	APN	8	80727648	missense	probably benign
IGL02338:Smarca5	APN	8	80719570	splice site	probably benign
IGL03212:Smarca5	APN	8	80711781	missense	possibly damaging	0.47
IGL03216:Smarca5	APN	8	80719658	missense	probably damaging	1.00
Cipher	UTSW	8	80719652	missense	probably damaging	1.00
Codebook	UTSW	8	80733707	missense	probably benign
Codex	UTSW	8	80710563	missense	probably damaging	0.99
Encryption	UTSW	8	80704726	missense	probably damaging	1.00
Enigma	UTSW	8	80705332	missense	probably benign	0.35
Key	UTSW	8	80726051	missense	probably damaging	1.00
Sailor	UTSW	8	80736726	missense	probably benign	0.07
Soldier	UTSW	8	80719715	missense	probably damaging	1.00
tinker	UTSW	8	80733750	missense	probably benign
R0254:Smarca5	UTSW	8	80704700	missense	probably benign	0.05
R0374:Smarca5	UTSW	8	80736731	missense	probably benign	0.30
R0625:Smarca5	UTSW	8	80720686	critical splice donor site	probably null
R1065:Smarca5	UTSW	8	80704714	missense	probably damaging	1.00
R1164:Smarca5	UTSW	8	80710631	missense	probably damaging	1.00
R1709:Smarca5	UTSW	8	80709220	nonsense	probably null
R2102:Smarca5	UTSW	8	80704675	missense	probably damaging	1.00
R3831:Smarca5	UTSW	8	80728494	missense	probably damaging	0.99
R4625:Smarca5	UTSW	8	80710563	missense	probably damaging	0.99
R4750:Smarca5	UTSW	8	80733707	missense	probably benign
R4822:Smarca5	UTSW	8	80708680	splice site	probably null
R4889:Smarca5	UTSW	8	80704697	missense	possibly damaging	0.95
R5756:Smarca5	UTSW	8	80710604	missense	probably benign
R6120:Smarca5	UTSW	8	80711743	missense	probably damaging	0.98
R6582:Smarca5	UTSW	8	80719652	missense	probably damaging	1.00
R6939:Smarca5	UTSW	8	80705320	missense	possibly damaging	0.63
R6972:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R6973:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R7027:Smarca5	UTSW	8	80736726	missense	probably benign	0.07
R7376:Smarca5	UTSW	8	80726051	missense	probably damaging	1.00
R7514:Smarca5	UTSW	8	80717534	missense	probably damaging	1.00
R7962:Smarca5	UTSW	8	80736759	missense	probably benign
R8031:Smarca5	UTSW	8	80704682	missense	probably damaging	1.00
R8400:Smarca5	UTSW	8	80709127	missense	probably benign	0.02
R8798:Smarca5	UTSW	8	80716508	missense	probably damaging	1.00
R8817:Smarca5	UTSW	8	80733750	missense	probably benign
R8824:Smarca5	UTSW	8	80705332	missense	probably benign	0.35
R8905:Smarca5	UTSW	8	80713948	missense	probably benign	0.14
R9018:Smarca5	UTSW	8	80704726	missense	probably damaging	1.00
R9028:Smarca5	UTSW	8	80714013	missense	probably damaging	1.00
R9203:Smarca5	UTSW	8	80704629	nonsense	probably null
R9253:Smarca5	UTSW	8	80719715	missense	probably damaging	1.00
R9294:Smarca5	UTSW	8	80719803	missense	probably damaging	1.00
R9328:Smarca5	UTSW	8	80720749	missense	probably benign	0.00
R9396:Smarca5	UTSW	8	80736729	missense	probably benign	0.00
R9514:Smarca5	UTSW	8	80702211	missense	probably damaging	1.00

Posted On

2013-06-21