Mutagenetix > Incidental Mutations

Incidental Mutation 'R4723:Smchd1'

354636

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

MMRRC Submission

041959-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.782) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71344489-71475343 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71436747 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 474 (C474*)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000127430
AA Change: C474*

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: C474*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	T	8: 13,735,937	N69I	probably damaging	Het
Adgrv1	T	C	13: 81,433,525	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc6	G	A	11: 98,908,831		probably null	Het
Cmtm1	C	T	8: 104,293,675	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157		probably null	Het
Col5a3	T	C	9: 20,809,591	H149R	unknown	Het
Coro7	T	G	16: 4,631,994	Q634P	probably benign	Het
Crym	A	G	7: 120,201,075		probably null	Het
Csmd3	A	T	15: 47,669,160	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648		probably benign	Het
Edem3	T	A	1: 151,804,698	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376		noncoding transcript	Het
Grin1	T	C	2: 25,294,470	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270		probably benign	Het
Iars2	A	G	1: 185,315,979	Y519H	probably damaging	Het
Ikbkb	A	T	8: 22,669,607	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410	H516Q	probably benign	Het
Klk1b27	A	T	7: 44,056,532	I220F	probably damaging	Het
Knop1	G	A	7: 118,855,864		probably benign	Het
Lhcgr	T	C	17: 88,742,602	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484		probably null	Het
Lrrc2	G	A	9: 110,970,160		probably null	Het
Lrrk2	T	C	15: 91,764,759	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841		probably benign	Het
Napg	T	G	18: 62,992,492		probably null	Het
Ncor1	A	G	11: 62,378,612	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144		noncoding transcript	Het
Olfr519	A	T	7: 108,893,821	F195L	probably benign	Het
Olfr656	T	C	7: 104,618,489	V270A	possibly damaging	Het
Olfr71	T	C	4: 43,705,785	K261R	probably damaging	Het
Opn5	A	T	17: 42,607,200	M57K	probably damaging	Het
Pde2a	C	G	7: 101,494,618	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370		probably benign	Het
Rnase9	C	T	14: 51,039,444	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440	P476T	probably damaging	Het
Smurf1	A	T	5: 144,893,184	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976	P593S	probably benign	Het
Tek	T	C	4: 94,799,160	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440	R156H	probably 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
IGL02302:Smchd1	APN	17	71358133	splice site	probably benign
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
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
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
Z1176:Smchd1	UTSW	17	71361841	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GAATGTCTGTGTCTCTGCACC -3'
(R):5'- TCAGTGTGCCCTTACAGAAATTG -3'

Sequencing Primer
(F):5'- CTGTGTCTCTGCACCTGTGTG -3'
(R):5'- TGCCCTTACAGAAATTGATGTTAAAG -3'

Posted On

2015-10-21