Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Smchd1'

716958

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

MommeD1, 4931400A14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R9491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71651484-71782338 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 71667020 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 null
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	A	9: 106,312,994 (GRCm39)	T142I	probably damaging	Het
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Ddx3y	T	A	Y: 1,279,465 (GRCm39)	D133V	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mdfic	T	A	6: 15,799,852 (GRCm39)	C326*	probably null	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prcc	A	G	3: 87,774,671 (GRCm39)	V377A	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	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
R1765:Smchd1	UTSW	17	71,707,196 (GRCm39)	splice site	probably benign
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
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'- AATGGTAGGTGATGGCCTGTAATAG -3'
(R):5'- TGGCTTTAGATTGCACATCTAGC -3'

Sequencing Primer
(F):5'- CCTGTAATAGGTATGACTTAGGATGG -3'
(R):5'- CACAAATTGAAGATGATCGAGCTGC -3'

Posted On

2022-07-18