Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Smchd1'

194328

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

MommeD1, 4931400A14Rik

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71651484-71782338 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 71707196 bp (GRCm39)

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

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Smchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Smchd1	APN	17	71,772,668 (GRCm39)	splice site	probably benign
IGL00529:Smchd1	APN	17	71,701,794 (GRCm39)	missense	probably benign	0.30
IGL00642:Smchd1	APN	17	71,697,427 (GRCm39)	missense	probably damaging	1.00
IGL00821:Smchd1	APN	17	71,705,618 (GRCm39)	missense	possibly damaging	0.92
IGL01330:Smchd1	APN	17	71,743,783 (GRCm39)	missense	probably benign
IGL01432:Smchd1	APN	17	71,738,285 (GRCm39)	missense	probably damaging	1.00
IGL01473:Smchd1	APN	17	71,696,745 (GRCm39)	missense	probably benign	0.00
IGL01705:Smchd1	APN	17	71,688,393 (GRCm39)	missense	probably damaging	1.00
IGL01787:Smchd1	APN	17	71,698,413 (GRCm39)	missense	probably damaging	0.99
IGL01814:Smchd1	APN	17	71,685,182 (GRCm39)	missense	probably benign	0.01
IGL01976:Smchd1	APN	17	71,701,720 (GRCm39)	nonsense	probably null
IGL01995:Smchd1	APN	17	71,751,015 (GRCm39)	missense	probably damaging	0.98
IGL02090:Smchd1	APN	17	71,738,248 (GRCm39)	missense	possibly damaging	0.86
IGL02302:Smchd1	APN	17	71,665,128 (GRCm39)	splice site	probably benign
IGL02309:Smchd1	APN	17	71,750,898 (GRCm39)	missense	probably benign	0.32
IGL02391:Smchd1	APN	17	71,738,254 (GRCm39)	missense	probably null	1.00
IGL02515:Smchd1	APN	17	71,747,952 (GRCm39)	missense	probably damaging	1.00
IGL02644:Smchd1	APN	17	71,667,016 (GRCm39)	splice site	probably benign
IGL03081:Smchd1	APN	17	71,667,186 (GRCm39)	missense	probably damaging	0.98
IGL03212:Smchd1	APN	17	71,750,886 (GRCm39)	missense	probably damaging	0.99
IGL03236:Smchd1	APN	17	71,698,425 (GRCm39)	missense	possibly damaging	0.88
IGL03297:Smchd1	APN	17	71,656,695 (GRCm39)	missense	probably benign	0.01
Dry_tortugas	UTSW	17	71,747,951 (GRCm39)	missense	probably damaging	1.00
R0049:Smchd1	UTSW	17	71,738,231 (GRCm39)	missense	probably benign	0.01
R0254:Smchd1	UTSW	17	71,718,886 (GRCm39)	missense	probably benign	0.00
R0391:Smchd1	UTSW	17	71,710,149 (GRCm39)	missense	probably damaging	1.00
R0403:Smchd1	UTSW	17	71,701,897 (GRCm39)	missense	probably damaging	1.00
R0499:Smchd1	UTSW	17	71,694,083 (GRCm39)	missense	probably benign
R0520:Smchd1	UTSW	17	71,736,538 (GRCm39)	missense	possibly damaging	0.85
R0616:Smchd1	UTSW	17	71,686,569 (GRCm39)	missense	probably benign	0.39
R1120:Smchd1	UTSW	17	71,665,141 (GRCm39)	nonsense	probably null
R1469:Smchd1	UTSW	17	71,656,725 (GRCm39)	missense	probably damaging	1.00
R1469:Smchd1	UTSW	17	71,656,725 (GRCm39)	missense	probably damaging	1.00
R1473:Smchd1	UTSW	17	71,668,832 (GRCm39)	splice site	probably benign
R1484:Smchd1	UTSW	17	71,685,252 (GRCm39)	missense	probably benign	0.31
R1501:Smchd1	UTSW	17	71,672,089 (GRCm39)	missense	possibly damaging	0.54
R1718:Smchd1	UTSW	17	71,755,828 (GRCm39)	missense	possibly damaging	0.46
R1766:Smchd1	UTSW	17	71,698,374 (GRCm39)	missense	probably damaging	0.99
R1803:Smchd1	UTSW	17	71,694,001 (GRCm39)	missense	probably damaging	0.99
R1829:Smchd1	UTSW	17	71,677,332 (GRCm39)	missense	probably damaging	1.00
R1850:Smchd1	UTSW	17	71,696,766 (GRCm39)	missense	probably damaging	0.99
R1917:Smchd1	UTSW	17	71,714,232 (GRCm39)	missense	possibly damaging	0.48
R1918:Smchd1	UTSW	17	71,714,232 (GRCm39)	missense	possibly damaging	0.48
R1936:Smchd1	UTSW	17	71,770,786 (GRCm39)	missense	probably damaging	1.00
R2024:Smchd1	UTSW	17	71,677,923 (GRCm39)	missense	probably benign	0.15
R2147:Smchd1	UTSW	17	71,705,583 (GRCm39)	missense	possibly damaging	0.93
R2180:Smchd1	UTSW	17	71,770,794 (GRCm39)	missense	probably benign	0.23
R2398:Smchd1	UTSW	17	71,733,431 (GRCm39)	splice site	probably benign
R2398:Smchd1	UTSW	17	71,667,136 (GRCm39)	missense	probably damaging	1.00
R2935:Smchd1	UTSW	17	71,718,900 (GRCm39)	missense	probably damaging	1.00
R3000:Smchd1	UTSW	17	71,670,033 (GRCm39)	missense	probably benign	0.00
R3021:Smchd1	UTSW	17	71,694,093 (GRCm39)	missense	possibly damaging	0.75
R3808:Smchd1	UTSW	17	71,736,536 (GRCm39)	missense	probably damaging	1.00
R4323:Smchd1	UTSW	17	71,735,270 (GRCm39)	missense	probably benign	0.00
R4486:Smchd1	UTSW	17	71,714,230 (GRCm39)	missense	probably benign	0.02
R4487:Smchd1	UTSW	17	71,714,230 (GRCm39)	missense	probably benign	0.02
R4488:Smchd1	UTSW	17	71,714,230 (GRCm39)	missense	probably benign	0.02
R4489:Smchd1	UTSW	17	71,714,230 (GRCm39)	missense	probably benign	0.02
R4723:Smchd1	UTSW	17	71,743,742 (GRCm39)	nonsense	probably null
R4751:Smchd1	UTSW	17	71,698,463 (GRCm39)	missense	probably benign	0.01
R4798:Smchd1	UTSW	17	71,667,048 (GRCm39)	nonsense	probably null
R4814:Smchd1	UTSW	17	71,718,763 (GRCm39)	critical splice donor site	probably null
R4882:Smchd1	UTSW	17	71,665,234 (GRCm39)	intron	probably benign
R5088:Smchd1	UTSW	17	71,738,343 (GRCm39)	missense	possibly damaging	0.86
R5589:Smchd1	UTSW	17	71,747,956 (GRCm39)	missense	probably damaging	1.00
R5618:Smchd1	UTSW	17	71,762,722 (GRCm39)	missense	probably damaging	1.00
R5839:Smchd1	UTSW	17	71,701,857 (GRCm39)	missense	probably damaging	0.98
R5994:Smchd1	UTSW	17	71,672,404 (GRCm39)	missense	possibly damaging	0.89
R6009:Smchd1	UTSW	17	71,747,951 (GRCm39)	missense	probably damaging	1.00
R6042:Smchd1	UTSW	17	71,684,052 (GRCm39)	nonsense	probably null
R6082:Smchd1	UTSW	17	71,656,714 (GRCm39)	missense	probably benign	0.09
R6126:Smchd1	UTSW	17	71,677,280 (GRCm39)	missense	probably damaging	1.00
R6294:Smchd1	UTSW	17	71,677,922 (GRCm39)	missense	probably benign	0.13
R6788:Smchd1	UTSW	17	71,782,096 (GRCm39)	missense	probably benign	0.02
R6853:Smchd1	UTSW	17	71,743,738 (GRCm39)	missense	probably damaging	1.00
R6875:Smchd1	UTSW	17	71,660,501 (GRCm39)	missense	probably damaging	1.00
R7026:Smchd1	UTSW	17	71,656,662 (GRCm39)	missense	probably benign
R7045:Smchd1	UTSW	17	71,722,039 (GRCm39)	missense	probably benign	0.22
R7068:Smchd1	UTSW	17	71,694,087 (GRCm39)	missense	probably benign	0.00
R7085:Smchd1	UTSW	17	71,672,214 (GRCm39)	splice site	probably null
R7089:Smchd1	UTSW	17	71,668,955 (GRCm39)	missense	probably benign	0.00
R7145:Smchd1	UTSW	17	71,685,202 (GRCm39)	missense	probably benign
R7158:Smchd1	UTSW	17	71,707,145 (GRCm39)	missense	probably damaging	0.99
R7180:Smchd1	UTSW	17	71,701,818 (GRCm39)	missense	probably damaging	0.99
R7183:Smchd1	UTSW	17	71,660,511 (GRCm39)	missense	probably benign	0.00
R7214:Smchd1	UTSW	17	71,652,359 (GRCm39)	missense	probably benign	0.15
R7414:Smchd1	UTSW	17	71,782,074 (GRCm39)	missense	probably damaging	0.99
R7512:Smchd1	UTSW	17	71,688,364 (GRCm39)	missense	possibly damaging	0.51
R7631:Smchd1	UTSW	17	71,705,684 (GRCm39)	missense	probably benign	0.10
R7641:Smchd1	UTSW	17	71,697,474 (GRCm39)	missense	probably benign	0.00
R7709:Smchd1	UTSW	17	71,665,193 (GRCm39)	missense	probably damaging	1.00
R7768:Smchd1	UTSW	17	71,718,906 (GRCm39)	missense	probably damaging	1.00
R7789:Smchd1	UTSW	17	71,782,296 (GRCm39)	start gained	probably benign
R7898:Smchd1	UTSW	17	71,684,813 (GRCm39)	splice site	probably null
R7965:Smchd1	UTSW	17	71,762,621 (GRCm39)	missense	possibly damaging	0.65
R8177:Smchd1	UTSW	17	71,697,448 (GRCm39)	missense	probably benign	0.28
R8359:Smchd1	UTSW	17	71,738,238 (GRCm39)	missense	probably damaging	0.99
R8370:Smchd1	UTSW	17	71,701,908 (GRCm39)	missense	probably benign	0.22
R8426:Smchd1	UTSW	17	71,755,598 (GRCm39)	missense	probably damaging	1.00
R8443:Smchd1	UTSW	17	71,714,244 (GRCm39)	missense	probably benign	0.18
R8948:Smchd1	UTSW	17	71,743,767 (GRCm39)	missense	probably damaging	1.00
R8954:Smchd1	UTSW	17	71,755,752 (GRCm39)	missense	probably damaging	1.00
R9041:Smchd1	UTSW	17	71,701,710 (GRCm39)	critical splice donor site	probably null
R9054:Smchd1	UTSW	17	71,670,017 (GRCm39)	nonsense	probably null
R9141:Smchd1	UTSW	17	71,672,125 (GRCm39)	missense	probably benign	0.00
R9169:Smchd1	UTSW	17	71,722,659 (GRCm39)	missense	probably damaging	1.00
R9231:Smchd1	UTSW	17	71,672,084 (GRCm39)	missense	probably benign	0.05
R9368:Smchd1	UTSW	17	71,694,071 (GRCm39)	missense	probably damaging	1.00
R9374:Smchd1	UTSW	17	71,718,843 (GRCm39)	missense	possibly damaging	0.61
R9416:Smchd1	UTSW	17	71,701,791 (GRCm39)	missense	probably benign	0.27
R9426:Smchd1	UTSW	17	71,672,125 (GRCm39)	missense	probably benign	0.00
R9491:Smchd1	UTSW	17	71,667,020 (GRCm39)	critical splice donor site	probably null
R9511:Smchd1	UTSW	17	71,750,899 (GRCm39)	missense	possibly damaging	0.65
R9591:Smchd1	UTSW	17	71,701,828 (GRCm39)	missense	probably damaging	1.00
R9593:Smchd1	UTSW	17	71,701,828 (GRCm39)	missense	probably damaging	1.00
Z1176:Smchd1	UTSW	17	71,668,836 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCACCTTACAGTGGACGATCAG -3'
(R):5'- GCTTATGATACCAAAGACAGCCAGCAG -3'

Sequencing Primer
(F):5'- ACAGTGGACGATCAGCTTTG -3'
(R):5'- gctctcaggtgttggattacag -3'

Posted On

2014-05-23