Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Smarcal1'

295814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarcal1

Ensembl Gene

ENSMUSG00000039354

Gene Name

SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

Synonyms

6030401P21Rik, Mharp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

72583251-72633134 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72620088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 691 (H691L)

Ref Sequence

ENSEMBL: ENSMUSP00000137833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047615] [ENSMUST00000152225]

AlphaFold

Q8BJL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000047615
AA Change: H691L

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

SMART Domains

Protein: ENSMUSP00000047589
Gene: ENSMUSG00000039354
AA Change: H691L

Domain	Start	End	E-Value	Type
low complexity region	31	51	N/A	INTRINSIC
Pfam:HARP	214	268	3.6e-26	PFAM
Pfam:HARP	302	356	1.2e-26	PFAM
DEXDc	391	564	7.01e-17	SMART
low complexity region	632	641	N/A	INTRINSIC
HELICc	697	780	8.17e-18	SMART
low complexity region	879	889	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150725

Predicted Effect

probably damaging
Transcript: ENSMUST00000152225
AA Change: H691L

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

SMART Domains

Protein: ENSMUSP00000137833
Gene: ENSMUSG00000039354
AA Change: H691L

Domain	Start	End	E-Value	Type
low complexity region	31	51	N/A	INTRINSIC
Pfam:HARP	214	268	8e-29	PFAM
Pfam:HARP	302	356	3e-26	PFAM
DEXDc	391	564	7.01e-17	SMART
low complexity region	632	641	N/A	INTRINSIC
HELICc	697	780	8.17e-18	SMART
low complexity region	879	889	N/A	INTRINSIC

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 encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Smarcal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Smarcal1	APN	1	72616565	missense	possibly damaging	0.80
IGL01658:Smarcal1	APN	1	72586131	missense	probably benign	0.00
IGL01980:Smarcal1	APN	1	72616520	nonsense	probably null
IGL02007:Smarcal1	APN	1	72595940	missense	probably damaging	0.98
IGL02153:Smarcal1	APN	1	72633055	utr 3 prime	probably benign
IGL03084:Smarcal1	APN	1	72598935	splice site	probably null
IGL03135:Smarcal1	APN	1	72616501	splice site	probably null
IGL03306:Smarcal1	APN	1	72626466	missense	probably benign	0.12
R0133:Smarcal1	UTSW	1	72632851	missense	probably benign	0.05
R0315:Smarcal1	UTSW	1	72595811	nonsense	probably null
R0396:Smarcal1	UTSW	1	72626473	missense	probably benign	0.03
R0891:Smarcal1	UTSW	1	72598856	missense	probably damaging	0.99
R1799:Smarcal1	UTSW	1	72585961	missense	probably damaging	0.97
R1854:Smarcal1	UTSW	1	72586099	missense	possibly damaging	0.77
R3725:Smarcal1	UTSW	1	72626596	missense	possibly damaging	0.88
R3726:Smarcal1	UTSW	1	72626596	missense	possibly damaging	0.88
R4164:Smarcal1	UTSW	1	72626689	intron	probably benign
R4438:Smarcal1	UTSW	1	72611478	intron	probably benign
R4722:Smarcal1	UTSW	1	72611337	missense	probably damaging	1.00
R4796:Smarcal1	UTSW	1	72597440	missense	probably benign
R4989:Smarcal1	UTSW	1	72632860	missense	possibly damaging	0.84
R5242:Smarcal1	UTSW	1	72591083	missense	probably benign	0.00
R5367:Smarcal1	UTSW	1	72595976	critical splice donor site	probably null
R5418:Smarcal1	UTSW	1	72598909	missense	probably benign	0.01
R5430:Smarcal1	UTSW	1	72626617	missense	probably damaging	1.00
R5591:Smarcal1	UTSW	1	72591253	missense	probably damaging	1.00
R5607:Smarcal1	UTSW	1	72586213	missense	probably benign	0.00
R5809:Smarcal1	UTSW	1	72591137	missense	probably benign	0.09
R6395:Smarcal1	UTSW	1	72616557	missense	possibly damaging	0.82
R6447:Smarcal1	UTSW	1	72585874	missense	probably damaging	0.96
R6852:Smarcal1	UTSW	1	72591173	missense	possibly damaging	0.75
R7060:Smarcal1	UTSW	1	72612942	missense	probably damaging	1.00
R7692:Smarcal1	UTSW	1	72586020	missense	probably benign	0.08
R7975:Smarcal1	UTSW	1	72612991	missense	probably benign	0.08
R8232:Smarcal1	UTSW	1	72626563	missense	probably damaging	1.00
R8407:Smarcal1	UTSW	1	72601395	missense	probably benign	0.04
R8901:Smarcal1	UTSW	1	72585780	missense	possibly damaging	0.71
R9329:Smarcal1	UTSW	1	72626538	missense	probably damaging	0.99
R9548:Smarcal1	UTSW	1	72632840	missense	possibly damaging	0.84
Z1177:Smarcal1	UTSW	1	72591267	missense	probably damaging	1.00

Posted On

2015-04-16