Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Smchd1'

557472

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

MommeD1, 4931400A14Rik

MMRRC Submission

045329-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71651484-71782338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71707145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 941 (I941R)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000127430
AA Change: I941R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: I941R

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: 98.8%

Validation Efficiency

100% (68/68)

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
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	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
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
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'- ACAACCTCACCTTACAGTGG -3'
(R):5'- TGCTATTGAGACAGCTTCATCAC -3'

Sequencing Primer
(F):5'- TCACCTTACAGTGGCCAAC -3'
(R):5'- TATTGAGACAGCTTCATCACACACAC -3'

Posted On

2019-06-26