Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Smchd1'

553745

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71344489-71475343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71378207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1409 (T1409S)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably benign
Transcript: ENSMUST00000127430
AA Change: T1409S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: T1409S

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: 99.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,070,059 (GRCm38)	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,307,053 (GRCm38)	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,200,992 (GRCm38)	E584K	probably benign	Het
Ano3	A	T	2: 110,862,860 (GRCm38)	V131D	probably benign	Het
Arhgdig	C	T	17: 26,199,363 (GRCm38)	W215*	probably null	Het
Cad	G	T	5: 31,067,612 (GRCm38)	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,135,641 (GRCm38)	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,238,231 (GRCm38)	D1681E	probably benign	Het
Cenpl	T	A	1: 161,082,912 (GRCm38)	L143H	possibly damaging	Het
Cherp	T	C	8: 72,468,386 (GRCm38)	K270E		Het
Cmss1	A	G	16: 57,311,355 (GRCm38)	I136T	probably benign	Het
Col23a1	T	C	11: 51,565,223 (GRCm38)		probably null	Het
Crnn	C	A	3: 93,148,382 (GRCm38)	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,872,844 (GRCm38)	Q149L	probably benign	Het
Dst	T	A	1: 34,189,882 (GRCm38)	N2185K	probably benign	Het
Eif1ad18	G	T	12: 88,083,827 (GRCm38)	C44F	probably benign	Het
Elp2	T	A	18: 24,604,069 (GRCm38)	N25K	probably benign	Het
Ephb4	A	T	5: 137,372,046 (GRCm38)	D845V	probably damaging	Het
Esyt3	T	C	9: 99,319,574 (GRCm38)	T561A	probably damaging	Het
F3	G	T	3: 121,731,586 (GRCm38)	V159L	probably damaging	Het
Fam81a	A	T	9: 70,110,278 (GRCm38)	D128E	probably damaging	Het
Flot1	T	G	17: 35,824,943 (GRCm38)	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507 (GRCm38)	K102N	probably damaging	Het
Gm6309	T	C	5: 146,170,290 (GRCm38)	Q82R	possibly damaging	Het
H13	A	G	2: 152,681,072 (GRCm38)	N102D	probably damaging	Het
Lamc2	C	G	1: 153,130,772 (GRCm38)	A878P	possibly damaging	Het
Lepr	C	T	4: 101,752,197 (GRCm38)	T327I	probably benign	Het
Lrp2	A	G	2: 69,454,808 (GRCm38)		probably null	Het
Ly86	A	G	13: 37,377,010 (GRCm38)	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,458,998 (GRCm38)	F648I	possibly damaging	Het
Muc16	G	A	9: 18,655,580 (GRCm38)	T1881I	unknown	Het
Myh13	T	G	11: 67,354,740 (GRCm38)	S1069A	probably benign	Het
Myh4	T	A	11: 67,260,228 (GRCm38)	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,817,679 (GRCm38)	L1341*	probably null	Het
Naa25	G	T	5: 121,417,489 (GRCm38)		probably null	Het
Nbeal1	G	C	1: 60,237,151 (GRCm38)	V684L	probably benign	Het
Ncapg	C	T	5: 45,670,030 (GRCm38)	A3V	possibly damaging	Het
Ncln	T	C	10: 81,488,252 (GRCm38)	H481R	probably benign	Het
Nek4	C	A	14: 30,982,348 (GRCm38)	Q607K	probably damaging	Het
Neo1	T	C	9: 58,889,179 (GRCm38)	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,909,931 (GRCm38)	N165S	probably benign	Het
Or2l5	C	G	16: 19,514,899 (GRCm38)	V246L	probably damaging	Het
Or4p22	C	T	2: 88,487,377 (GRCm38)	S215L	probably damaging	Het
Or8b8	A	G	9: 37,897,563 (GRCm38)	H53R	probably benign	Het
Or8k30	T	C	2: 86,508,528 (GRCm38)	L23P	probably damaging	Het
Otulin	T	C	15: 27,608,770 (GRCm38)	Y229C	probably damaging	Het
Palld	A	T	8: 61,532,017 (GRCm38)	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,505,089 (GRCm38)	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,707,728 (GRCm38)	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,721,790 (GRCm38)	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,762,997 (GRCm38)	Y373*	probably null	Het
Plxna2	G	T	1: 194,649,522 (GRCm38)	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,232,806 (GRCm38)		probably null	Het
Rsrc2	A	G	5: 123,739,567 (GRCm38)		probably benign	Het
Scaper	C	T	9: 55,912,111 (GRCm38)	D107N	unknown	Het
Scgb2b3	T	A	7: 31,360,148 (GRCm38)	Y67F	probably benign	Het
Scn5a	G	A	9: 119,486,371 (GRCm38)	T1757I	probably damaging	Het
Sgo2b	G	A	8: 63,928,184 (GRCm38)	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,150,678 (GRCm38)	K72R	probably damaging	Het
Stab1	A	T	14: 31,145,073 (GRCm38)		probably null	Het
Sult2b1	T	C	7: 45,733,632 (GRCm38)	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,686,753 (GRCm38)	H64Q	probably damaging	Het
Tle6	T	C	10: 81,600,076 (GRCm38)	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,535,086 (GRCm38)	V203A	probably benign	Het
Tmem45b	G	A	9: 31,429,041 (GRCm38)	T108I	probably damaging	Het
Tmf1	A	T	6: 97,176,118 (GRCm38)	D331E	probably damaging	Het
Txndc9	T	C	1: 37,990,296 (GRCm38)	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,191,752 (GRCm38)	R806S	probably benign	Het
Vmn2r59	G	A	7: 42,045,764 (GRCm38)	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,816,608 (GRCm38)	V92A	probably benign	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
IGL00642:Smchd1	APN	17	71,390,432 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTCCCTAGCACTGGAGTTG -3'
(R):5'- CAGCCTTAGAAAGTTGTCCATGTG -3'

Sequencing Primer
(F):5'- CCTAGCACTGGAGTTGTGGGC -3'
(R):5'- CAATTACCTTTTTGGAGATTGCTGC -3'

Posted On

2019-05-15