Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00642:Smchd1'

14153

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

IGL00642

Quality Score

Status

Chromosome

Chromosomal Location

71344489-71475343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71390432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1171 (E1171G)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000127430
AA Change: E1171G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: E1171G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195774

Coding Region Coverage

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 81,420,938 (GRCm38)	R388G	possibly damaging	Het
Akap9	A	G	5: 3,960,842 (GRCm38)	Q533R	probably damaging	Het
Ano4	C	T	10: 88,954,667 (GRCm38)	E892K	probably damaging	Het
Arap2	G	A	5: 62,733,058 (GRCm38)	R347*	probably null	Het
Cdc7	A	G	5: 106,968,860 (GRCm38)	I34V	probably benign	Het
Copb2	T	G	9: 98,579,033 (GRCm38)	L383V	probably damaging	Het
Dhx57	A	G	17: 80,274,976 (GRCm38)	F400S	probably benign	Het
Efr3a	A	G	15: 65,855,417 (GRCm38)	D605G	possibly damaging	Het
Kbtbd3	A	T	9: 4,330,169 (GRCm38)	Y181F	probably benign	Het
Tars	A	G	15: 11,394,372 (GRCm38)	Y60H	probably damaging	Het

Other mutations in Smchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Smchd1	APN	17	71,465,673 (GRCm38)	splice site	probably benign
IGL00529:Smchd1	APN	17	71,394,799 (GRCm38)	missense	probably benign	0.30
IGL00821:Smchd1	APN	17	71,398,623 (GRCm38)	missense	possibly damaging	0.92
IGL01330:Smchd1	APN	17	71,436,788 (GRCm38)	missense	probably benign
IGL01432:Smchd1	APN	17	71,431,290 (GRCm38)	missense	probably damaging	1.00
IGL01473:Smchd1	APN	17	71,389,750 (GRCm38)	missense	probably benign	0.00
IGL01705:Smchd1	APN	17	71,381,398 (GRCm38)	missense	probably damaging	1.00
IGL01787:Smchd1	APN	17	71,391,418 (GRCm38)	missense	probably damaging	0.99
IGL01814:Smchd1	APN	17	71,378,187 (GRCm38)	missense	probably benign	0.01
IGL01976:Smchd1	APN	17	71,394,725 (GRCm38)	nonsense	probably null
IGL01995:Smchd1	APN	17	71,444,020 (GRCm38)	missense	probably damaging	0.98
IGL02090:Smchd1	APN	17	71,431,253 (GRCm38)	missense	possibly damaging	0.86
IGL02302:Smchd1	APN	17	71,358,133 (GRCm38)	splice site	probably benign
IGL02309:Smchd1	APN	17	71,443,903 (GRCm38)	missense	probably benign	0.32
IGL02391:Smchd1	APN	17	71,431,259 (GRCm38)	missense	probably null	1.00
IGL02515:Smchd1	APN	17	71,440,957 (GRCm38)	missense	probably damaging	1.00
IGL02644:Smchd1	APN	17	71,360,021 (GRCm38)	splice site	probably benign
IGL03081:Smchd1	APN	17	71,360,191 (GRCm38)	missense	probably damaging	0.98
IGL03212:Smchd1	APN	17	71,443,891 (GRCm38)	missense	probably damaging	0.99
IGL03236:Smchd1	APN	17	71,391,430 (GRCm38)	missense	possibly damaging	0.88
IGL03297:Smchd1	APN	17	71,349,700 (GRCm38)	missense	probably benign	0.01
Dry_tortugas	UTSW	17	71,440,956 (GRCm38)	missense	probably damaging	1.00
R0049:Smchd1	UTSW	17	71,431,236 (GRCm38)	missense	probably benign	0.01
R0254:Smchd1	UTSW	17	71,411,891 (GRCm38)	missense	probably benign	0.00
R0391:Smchd1	UTSW	17	71,403,154 (GRCm38)	missense	probably damaging	1.00
R0403:Smchd1	UTSW	17	71,394,902 (GRCm38)	missense	probably damaging	1.00
R0499:Smchd1	UTSW	17	71,387,088 (GRCm38)	missense	probably benign
R0520:Smchd1	UTSW	17	71,429,543 (GRCm38)	missense	possibly damaging	0.85
R0616:Smchd1	UTSW	17	71,379,574 (GRCm38)	missense	probably benign	0.39
R1120:Smchd1	UTSW	17	71,358,146 (GRCm38)	nonsense	probably null
R1469:Smchd1	UTSW	17	71,349,730 (GRCm38)	missense	probably damaging	1.00
R1469:Smchd1	UTSW	17	71,349,730 (GRCm38)	missense	probably damaging	1.00
R1473:Smchd1	UTSW	17	71,361,837 (GRCm38)	splice site	probably benign
R1484:Smchd1	UTSW	17	71,378,257 (GRCm38)	missense	probably benign	0.31
R1501:Smchd1	UTSW	17	71,365,094 (GRCm38)	missense	possibly damaging	0.54
R1718:Smchd1	UTSW	17	71,448,833 (GRCm38)	missense	possibly damaging	0.46
R1765:Smchd1	UTSW	17	71,400,201 (GRCm38)	splice site	probably benign
R1766:Smchd1	UTSW	17	71,391,379 (GRCm38)	missense	probably damaging	0.99
R1803:Smchd1	UTSW	17	71,387,006 (GRCm38)	missense	probably damaging	0.99
R1829:Smchd1	UTSW	17	71,370,337 (GRCm38)	missense	probably damaging	1.00
R1850:Smchd1	UTSW	17	71,389,771 (GRCm38)	missense	probably damaging	0.99
R1917:Smchd1	UTSW	17	71,407,237 (GRCm38)	missense	possibly damaging	0.48
R1918:Smchd1	UTSW	17	71,407,237 (GRCm38)	missense	possibly damaging	0.48
R1936:Smchd1	UTSW	17	71,463,791 (GRCm38)	missense	probably damaging	1.00
R2024:Smchd1	UTSW	17	71,370,928 (GRCm38)	missense	probably benign	0.15
R2147:Smchd1	UTSW	17	71,398,588 (GRCm38)	missense	possibly damaging	0.93
R2180:Smchd1	UTSW	17	71,463,799 (GRCm38)	missense	probably benign	0.23
R2398:Smchd1	UTSW	17	71,426,436 (GRCm38)	splice site	probably benign
R2398:Smchd1	UTSW	17	71,360,141 (GRCm38)	missense	probably damaging	1.00
R2935:Smchd1	UTSW	17	71,411,905 (GRCm38)	missense	probably damaging	1.00
R3000:Smchd1	UTSW	17	71,363,038 (GRCm38)	missense	probably benign	0.00
R3021:Smchd1	UTSW	17	71,387,098 (GRCm38)	missense	possibly damaging	0.75
R3808:Smchd1	UTSW	17	71,429,541 (GRCm38)	missense	probably damaging	1.00
R4323:Smchd1	UTSW	17	71,428,275 (GRCm38)	missense	probably benign	0.00
R4486:Smchd1	UTSW	17	71,407,235 (GRCm38)	missense	probably benign	0.02
R4487:Smchd1	UTSW	17	71,407,235 (GRCm38)	missense	probably benign	0.02
R4488:Smchd1	UTSW	17	71,407,235 (GRCm38)	missense	probably benign	0.02
R4489:Smchd1	UTSW	17	71,407,235 (GRCm38)	missense	probably benign	0.02
R4723:Smchd1	UTSW	17	71,436,747 (GRCm38)	nonsense	probably null
R4751:Smchd1	UTSW	17	71,391,468 (GRCm38)	missense	probably benign	0.01
R4798:Smchd1	UTSW	17	71,360,053 (GRCm38)	nonsense	probably null
R4814:Smchd1	UTSW	17	71,411,768 (GRCm38)	critical splice donor site	probably null
R4882:Smchd1	UTSW	17	71,358,239 (GRCm38)	intron	probably benign
R5088:Smchd1	UTSW	17	71,431,348 (GRCm38)	missense	possibly damaging	0.86
R5589:Smchd1	UTSW	17	71,440,961 (GRCm38)	missense	probably damaging	1.00
R5618:Smchd1	UTSW	17	71,455,727 (GRCm38)	missense	probably damaging	1.00
R5839:Smchd1	UTSW	17	71,394,862 (GRCm38)	missense	probably damaging	0.98
R5994:Smchd1	UTSW	17	71,365,409 (GRCm38)	missense	possibly damaging	0.89
R6009:Smchd1	UTSW	17	71,440,956 (GRCm38)	missense	probably damaging	1.00
R6042:Smchd1	UTSW	17	71,377,057 (GRCm38)	nonsense	probably null
R6082:Smchd1	UTSW	17	71,349,719 (GRCm38)	missense	probably benign	0.09
R6126:Smchd1	UTSW	17	71,370,285 (GRCm38)	missense	probably damaging	1.00
R6294:Smchd1	UTSW	17	71,370,927 (GRCm38)	missense	probably benign	0.13
R6788:Smchd1	UTSW	17	71,475,101 (GRCm38)	missense	probably benign	0.02
R6853:Smchd1	UTSW	17	71,436,743 (GRCm38)	missense	probably damaging	1.00
R6875:Smchd1	UTSW	17	71,353,506 (GRCm38)	missense	probably damaging	1.00
R7026:Smchd1	UTSW	17	71,349,667 (GRCm38)	missense	probably benign
R7045:Smchd1	UTSW	17	71,415,044 (GRCm38)	missense	probably benign	0.22
R7068:Smchd1	UTSW	17	71,387,092 (GRCm38)	missense	probably benign	0.00
R7085:Smchd1	UTSW	17	71,365,219 (GRCm38)	splice site	probably null
R7089:Smchd1	UTSW	17	71,361,960 (GRCm38)	missense	probably benign	0.00
R7145:Smchd1	UTSW	17	71,378,207 (GRCm38)	missense	probably benign
R7158:Smchd1	UTSW	17	71,400,150 (GRCm38)	missense	probably damaging	0.99
R7180:Smchd1	UTSW	17	71,394,823 (GRCm38)	missense	probably damaging	0.99
R7183:Smchd1	UTSW	17	71,353,516 (GRCm38)	missense	probably benign	0.00
R7214:Smchd1	UTSW	17	71,345,364 (GRCm38)	missense	probably benign	0.15
R7414:Smchd1	UTSW	17	71,475,079 (GRCm38)	missense	probably damaging	0.99
R7512:Smchd1	UTSW	17	71,381,369 (GRCm38)	missense	possibly damaging	0.51
R7631:Smchd1	UTSW	17	71,398,689 (GRCm38)	missense	probably benign	0.10
R7641:Smchd1	UTSW	17	71,390,479 (GRCm38)	missense	probably benign	0.00
R7709:Smchd1	UTSW	17	71,358,198 (GRCm38)	missense	probably damaging	1.00
R7768:Smchd1	UTSW	17	71,411,911 (GRCm38)	missense	probably damaging	1.00
R7789:Smchd1	UTSW	17	71,475,301 (GRCm38)	start gained	probably benign
R7898:Smchd1	UTSW	17	71,377,818 (GRCm38)	splice site	probably null
R7965:Smchd1	UTSW	17	71,455,626 (GRCm38)	missense	possibly damaging	0.65
R8177:Smchd1	UTSW	17	71,390,453 (GRCm38)	missense	probably benign	0.28
R8359:Smchd1	UTSW	17	71,431,243 (GRCm38)	missense	probably damaging	0.99
R8370:Smchd1	UTSW	17	71,394,913 (GRCm38)	missense	probably benign	0.22
R8426:Smchd1	UTSW	17	71,448,603 (GRCm38)	missense	probably damaging	1.00
R8443:Smchd1	UTSW	17	71,407,249 (GRCm38)	missense	probably benign	0.18
R8948:Smchd1	UTSW	17	71,436,772 (GRCm38)	missense	probably damaging	1.00
R8954:Smchd1	UTSW	17	71,448,757 (GRCm38)	missense	probably damaging	1.00
R9041:Smchd1	UTSW	17	71,394,715 (GRCm38)	critical splice donor site	probably null
R9054:Smchd1	UTSW	17	71,363,022 (GRCm38)	nonsense	probably null
R9141:Smchd1	UTSW	17	71,365,130 (GRCm38)	missense	probably benign	0.00
R9169:Smchd1	UTSW	17	71,415,664 (GRCm38)	missense	probably damaging	1.00
R9231:Smchd1	UTSW	17	71,365,089 (GRCm38)	missense	probably benign	0.05
R9368:Smchd1	UTSW	17	71,387,076 (GRCm38)	missense	probably damaging	1.00
R9374:Smchd1	UTSW	17	71,411,848 (GRCm38)	missense	possibly damaging	0.61
R9416:Smchd1	UTSW	17	71,394,796 (GRCm38)	missense	probably benign	0.27
R9426:Smchd1	UTSW	17	71,365,130 (GRCm38)	missense	probably benign	0.00
R9491:Smchd1	UTSW	17	71,360,025 (GRCm38)	critical splice donor site	probably null
R9511:Smchd1	UTSW	17	71,443,904 (GRCm38)	missense	possibly damaging	0.65
R9591:Smchd1	UTSW	17	71,394,833 (GRCm38)	missense	probably damaging	1.00
R9593:Smchd1	UTSW	17	71,394,833 (GRCm38)	missense	probably damaging	1.00
Z1176:Smchd1	UTSW	17	71,361,841 (GRCm38)	missense	probably null	1.00

Posted On

2012-12-06