Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Smchd1'

287450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

71344489-71475343 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 71358133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127430]

AlphaFold

Q6P5D8

Predicted Effect

probably benign
Transcript: ENSMUST00000127430

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054

Domain	Start	End	E-Value	Type
Pfam:HATPase_c_3	139	299	6.8e-16	PFAM
low complexity region	451	457	N/A	INTRINSIC
internal_repeat_1	859	1087	9.1e-5	PROSPERO
low complexity region	1185	1196	N/A	INTRINSIC
internal_repeat_1	1205	1409	9.1e-5	PROSPERO
coiled coil region	1649	1680	N/A	INTRINSIC
SMC_hinge	1721	1848	1.64e-15	SMART
low complexity region	1940	1954	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182205

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,383,098	Q211L	possibly damaging	Het
2210016F16Rik	G	A	13: 58,381,935	R288W	probably damaging	Het
Abca14	T	A	7: 120,318,745		probably benign	Het
Abcb10	A	T	8: 123,958,672	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,283,198	T909I	probably benign	Het
Arhgef3	A	G	14: 27,362,842	N76S	probably benign	Het
Bbx	A	T	16: 50,224,915	C320S	probably damaging	Het
Cdh23	C	A	10: 60,323,523	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,221,504	A149T	probably damaging	Het
Cntnap4	A	G	8: 112,785,903		probably benign	Het
Col6a3	A	T	1: 90,781,760	F1905I	unknown	Het
Ddx60	A	G	8: 61,975,832	Y792C	possibly damaging	Het
Dock4	T	C	12: 40,725,777	L573P	probably damaging	Het
Dopey2	A	G	16: 93,810,117	I2103V	probably benign	Het
Ear1	T	G	14: 43,819,047	Q121H	probably benign	Het
Eprs	T	A	1: 185,387,124		probably benign	Het
Ero1l	T	C	14: 45,293,162	K271R	probably benign	Het
Esyt1	A	G	10: 128,512,367	L884P	probably damaging	Het
F2r	T	C	13: 95,604,652	N125S	probably damaging	Het
Fam129b	A	G	2: 32,921,123	I382V	probably benign	Het
Fam217a	T	C	13: 34,911,161	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,054,797	R123W	probably damaging	Het
Gatsl2	G	A	5: 134,135,643	V148I	possibly damaging	Het
Gimap4	T	G	6: 48,690,413	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011	V180E	probably benign	Het
Hecw2	A	T	1: 53,933,248	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,980,929	K42*	probably null	Het
Kcnh7	T	A	2: 62,706,058	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,316,948	I223N	probably damaging	Het
Lama2	G	A	10: 27,212,043	P913S	probably benign	Het
Lgr4	A	G	2: 110,002,496	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,718,525	E403D	possibly damaging	Het
Mccc2	A	G	13: 99,954,239	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,998,909	V346A	probably damaging	Het
Muc6	T	C	7: 141,641,496	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,329,278	N56S	probably benign	Het
Ntn5	G	T	7: 45,694,248	R337L	probably damaging	Het
Nynrin	A	G	14: 55,868,505	K894E	probably benign	Het
Olfr1305	A	C	2: 111,873,542	S104R	possibly damaging	Het
Olfr350	G	T	2: 36,850,703	G219V	probably benign	Het
Olfr447	T	A	6: 42,912,338	Y272N	probably damaging	Het
Olfr859	A	T	9: 19,808,685	R122S	probably damaging	Het
Pappa2	T	C	1: 158,715,001	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,755,938	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,145,953	R662L	probably damaging	Het
Ppp5c	G	A	7: 17,008,630	S261L	possibly damaging	Het
Rc3h1	T	C	1: 160,938,105		probably benign	Het
Rfx8	A	C	1: 39,665,522	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,353,681	*405E	probably null	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rnf139	G	T	15: 58,898,757	L210F	probably damaging	Het
Rragc	A	G	4: 123,921,086	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,964,356	V137E	probably damaging	Het
S100pbp	A	T	4: 129,182,441	D30E	probably damaging	Het
Sppl3	T	A	5: 115,082,331	C101S	probably benign	Het
St5	A	G	7: 109,525,331	V1101A	probably damaging	Het
St8sia6	T	C	2: 13,723,513	T74A	probably benign	Het
Sult3a1	A	G	10: 33,866,575	N66S	possibly damaging	Het
Sv2b	T	A	7: 75,124,199	K508M	probably damaging	Het
Terf1	T	C	1: 15,833,402	S275P	probably damaging	Het
Tmed8	G	T	12: 87,174,216	H199N	probably damaging	Het
Tubg2	A	T	11: 101,156,145	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,256,111		probably benign	Het
Usp34	C	T	11: 23,467,243	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,557,971	S366P	possibly damaging	Het

Other mutations in Smchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Smchd1	APN	17	71465673	splice site	probably benign
IGL00529:Smchd1	APN	17	71394799	missense	probably benign	0.30
IGL00642:Smchd1	APN	17	71390432	missense	probably damaging	1.00
IGL00821:Smchd1	APN	17	71398623	missense	possibly damaging	0.92
IGL01330:Smchd1	APN	17	71436788	missense	probably benign
IGL01432:Smchd1	APN	17	71431290	missense	probably damaging	1.00
IGL01473:Smchd1	APN	17	71389750	missense	probably benign	0.00
IGL01705:Smchd1	APN	17	71381398	missense	probably damaging	1.00
IGL01787:Smchd1	APN	17	71391418	missense	probably damaging	0.99
IGL01814:Smchd1	APN	17	71378187	missense	probably benign	0.01
IGL01976:Smchd1	APN	17	71394725	nonsense	probably null
IGL01995:Smchd1	APN	17	71444020	missense	probably damaging	0.98
IGL02090:Smchd1	APN	17	71431253	missense	possibly damaging	0.86
IGL02309:Smchd1	APN	17	71443903	missense	probably benign	0.32
IGL02391:Smchd1	APN	17	71431259	missense	probably null	1.00
IGL02515:Smchd1	APN	17	71440957	missense	probably damaging	1.00
IGL02644:Smchd1	APN	17	71360021	splice site	probably benign
IGL03081:Smchd1	APN	17	71360191	missense	probably damaging	0.98
IGL03212:Smchd1	APN	17	71443891	missense	probably damaging	0.99
IGL03236:Smchd1	APN	17	71391430	missense	possibly damaging	0.88
IGL03297:Smchd1	APN	17	71349700	missense	probably benign	0.01
Dry_tortugas	UTSW	17	71440956	missense	probably damaging	1.00
R0049:Smchd1	UTSW	17	71431236	missense	probably benign	0.01
R0254:Smchd1	UTSW	17	71411891	missense	probably benign	0.00
R0391:Smchd1	UTSW	17	71403154	missense	probably damaging	1.00
R0403:Smchd1	UTSW	17	71394902	missense	probably damaging	1.00
R0499:Smchd1	UTSW	17	71387088	missense	probably benign
R0520:Smchd1	UTSW	17	71429543	missense	possibly damaging	0.85
R0616:Smchd1	UTSW	17	71379574	missense	probably benign	0.39
R1120:Smchd1	UTSW	17	71358146	nonsense	probably null
R1469:Smchd1	UTSW	17	71349730	missense	probably damaging	1.00
R1469:Smchd1	UTSW	17	71349730	missense	probably damaging	1.00
R1473:Smchd1	UTSW	17	71361837	splice site	probably benign
R1484:Smchd1	UTSW	17	71378257	missense	probably benign	0.31
R1501:Smchd1	UTSW	17	71365094	missense	possibly damaging	0.54
R1718:Smchd1	UTSW	17	71448833	missense	possibly damaging	0.46
R1765:Smchd1	UTSW	17	71400201	splice site	probably benign
R1766:Smchd1	UTSW	17	71391379	missense	probably damaging	0.99
R1803:Smchd1	UTSW	17	71387006	missense	probably damaging	0.99
R1829:Smchd1	UTSW	17	71370337	missense	probably damaging	1.00
R1850:Smchd1	UTSW	17	71389771	missense	probably damaging	0.99
R1917:Smchd1	UTSW	17	71407237	missense	possibly damaging	0.48
R1918:Smchd1	UTSW	17	71407237	missense	possibly damaging	0.48
R1936:Smchd1	UTSW	17	71463791	missense	probably damaging	1.00
R2024:Smchd1	UTSW	17	71370928	missense	probably benign	0.15
R2147:Smchd1	UTSW	17	71398588	missense	possibly damaging	0.93
R2180:Smchd1	UTSW	17	71463799	missense	probably benign	0.23
R2398:Smchd1	UTSW	17	71360141	missense	probably damaging	1.00
R2398:Smchd1	UTSW	17	71426436	splice site	probably benign
R2935:Smchd1	UTSW	17	71411905	missense	probably damaging	1.00
R3000:Smchd1	UTSW	17	71363038	missense	probably benign	0.00
R3021:Smchd1	UTSW	17	71387098	missense	possibly damaging	0.75
R3808:Smchd1	UTSW	17	71429541	missense	probably damaging	1.00
R4323:Smchd1	UTSW	17	71428275	missense	probably benign	0.00
R4486:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4487:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4488:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4489:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4723:Smchd1	UTSW	17	71436747	nonsense	probably null
R4751:Smchd1	UTSW	17	71391468	missense	probably benign	0.01
R4798:Smchd1	UTSW	17	71360053	nonsense	probably null
R4814:Smchd1	UTSW	17	71411768	critical splice donor site	probably null
R4882:Smchd1	UTSW	17	71358239	intron	probably benign
R5088:Smchd1	UTSW	17	71431348	missense	possibly damaging	0.86
R5589:Smchd1	UTSW	17	71440961	missense	probably damaging	1.00
R5618:Smchd1	UTSW	17	71455727	missense	probably damaging	1.00
R5839:Smchd1	UTSW	17	71394862	missense	probably damaging	0.98
R5994:Smchd1	UTSW	17	71365409	missense	possibly damaging	0.89
R6009:Smchd1	UTSW	17	71440956	missense	probably damaging	1.00
R6042:Smchd1	UTSW	17	71377057	nonsense	probably null
R6082:Smchd1	UTSW	17	71349719	missense	probably benign	0.09
R6126:Smchd1	UTSW	17	71370285	missense	probably damaging	1.00
R6294:Smchd1	UTSW	17	71370927	missense	probably benign	0.13
R6788:Smchd1	UTSW	17	71475101	missense	probably benign	0.02
R6853:Smchd1	UTSW	17	71436743	missense	probably damaging	1.00
R6875:Smchd1	UTSW	17	71353506	missense	probably damaging	1.00
R7026:Smchd1	UTSW	17	71349667	missense	probably benign
R7045:Smchd1	UTSW	17	71415044	missense	probably benign	0.22
R7068:Smchd1	UTSW	17	71387092	missense	probably benign	0.00
R7085:Smchd1	UTSW	17	71365219	splice site	probably null
R7089:Smchd1	UTSW	17	71361960	missense	probably benign	0.00
R7145:Smchd1	UTSW	17	71378207	missense	probably benign
R7158:Smchd1	UTSW	17	71400150	missense	probably damaging	0.99
R7180:Smchd1	UTSW	17	71394823	missense	probably damaging	0.99
R7183:Smchd1	UTSW	17	71353516	missense	probably benign	0.00
R7214:Smchd1	UTSW	17	71345364	missense	probably benign	0.15
R7414:Smchd1	UTSW	17	71475079	missense	probably damaging	0.99
R7512:Smchd1	UTSW	17	71381369	missense	possibly damaging	0.51
R7631:Smchd1	UTSW	17	71398689	missense	probably benign	0.10
R7641:Smchd1	UTSW	17	71390479	missense	probably benign	0.00
R7709:Smchd1	UTSW	17	71358198	missense	probably damaging	1.00
R7768:Smchd1	UTSW	17	71411911	missense	probably damaging	1.00
R7789:Smchd1	UTSW	17	71475301	start gained	probably benign
R7898:Smchd1	UTSW	17	71377818	splice site	probably null
R7965:Smchd1	UTSW	17	71455626	missense	possibly damaging	0.65
R8177:Smchd1	UTSW	17	71390453	missense	probably benign	0.28
R8359:Smchd1	UTSW	17	71431243	missense	probably damaging	0.99
R8370:Smchd1	UTSW	17	71394913	missense	probably benign	0.22
R8426:Smchd1	UTSW	17	71448603	missense	probably damaging	1.00
R8443:Smchd1	UTSW	17	71407249	missense	probably benign	0.18
R8948:Smchd1	UTSW	17	71436772	missense	probably damaging	1.00
R8954:Smchd1	UTSW	17	71448757	missense	probably damaging	1.00
R9041:Smchd1	UTSW	17	71394715	critical splice donor site	probably null
R9054:Smchd1	UTSW	17	71363022	nonsense	probably null
R9141:Smchd1	UTSW	17	71365130	missense	probably benign	0.00
R9169:Smchd1	UTSW	17	71415664	missense	probably damaging	1.00
R9231:Smchd1	UTSW	17	71365089	missense	probably benign	0.05
R9368:Smchd1	UTSW	17	71387076	missense	probably damaging	1.00
R9374:Smchd1	UTSW	17	71411848	missense	possibly damaging	0.61
R9416:Smchd1	UTSW	17	71394796	missense	probably benign	0.27
R9426:Smchd1	UTSW	17	71365130	missense	probably benign	0.00
R9491:Smchd1	UTSW	17	71360025	critical splice donor site	probably null
R9511:Smchd1	UTSW	17	71443904	missense	possibly damaging	0.65
R9591:Smchd1	UTSW	17	71394833	missense	probably damaging	1.00
R9593:Smchd1	UTSW	17	71394833	missense	probably damaging	1.00
Z1176:Smchd1	UTSW	17	71361841	missense	probably null	1.00

Posted On

2015-04-16