Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Smchd1'

559138

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

MommeD1, 4931400A14Rik

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71651484-71782338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71660511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1864 (D1864E)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably benign
Transcript: ENSMUST00000127430
AA Change: D1864E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: D1864E

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,225,296 (GRCm39)		probably null	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Chst4	T	C	8: 110,756,630 (GRCm39)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Ehd1	A	G	19: 6,347,684 (GRCm39)	H346R	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Siae	G	A	9: 37,528,242 (GRCm39)	V72M	possibly damaging	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	probably damaging	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
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'- CCACAGGAGAGACTTTTGTGAT -3'
(R):5'- TGCCCAGTTCACTTTACTTATCA -3'

Sequencing Primer
(F):5'- ATGGTGAATTCCTGGCCAAC -3'
(R):5'- ACTCAGAGAGATTTGCCTGC -3'

Posted On

2019-06-26