Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Smchd1'

594509

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

MMRRC Submission

045768-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71344489-71475343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71358198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1830 (M1830K)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000127430
AA Change: M1830K

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

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: M1830K

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,407,685 (GRCm38)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,942,854 (GRCm38)	C170R	possibly damaging	Het
4932415D10Rik	A	C	10: 82,290,532 (GRCm38)	S2215A	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,587,410 (GRCm38)		probably null	Het
A2m	A	C	6: 121,660,104 (GRCm38)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,335,728 (GRCm38)	D340G	probably benign	Het
Abcg8	A	T	17: 84,692,491 (GRCm38)	D191V	probably damaging	Het
Acan	G	T	7: 79,089,608 (GRCm38)	V255F	probably damaging	Het
Ace	G	A	11: 105,988,837 (GRCm38)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,402,519 (GRCm38)	Q87L	unknown	Het
Adgrl1	G	A	8: 83,938,988 (GRCm38)	V1435M	probably benign	Het
Ano8	T	C	8: 71,482,289 (GRCm38)	D423G	probably damaging	Het
Aox3	T	C	1: 58,180,651 (GRCm38)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,405,056 (GRCm38)	D114G	probably benign	Het
Baiap2l2	G	T	15: 79,259,711 (GRCm38)	N394K	probably benign	Het
Cap1	A	T	4: 122,862,674 (GRCm38)	C355S	probably damaging	Het
Ccdc25	A	T	14: 65,840,484 (GRCm38)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,538,651 (GRCm38)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,173,015 (GRCm38)		probably benign	Het
CN725425	C	A	15: 91,240,727 (GRCm38)	R157S	probably benign	Het
Coq8b	T	C	7: 27,250,537 (GRCm38)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,990,060 (GRCm38)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,374,411 (GRCm38)	V83A	possibly damaging	Het
Daam1	G	A	12: 71,977,649 (GRCm38)	R797H	probably benign	Het
Dab1	C	A	4: 104,720,559 (GRCm38)	S275*	probably null	Het
Dgkz	T	C	2: 91,937,059 (GRCm38)	E863G	probably benign	Het
Dhx34	G	A	7: 16,212,864 (GRCm38)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,702,484 (GRCm38)		probably null	Het
Dnmt3b	C	A	2: 153,672,220 (GRCm38)	N384K	probably benign	Het
Dock5	A	G	14: 67,796,005 (GRCm38)	Y972H	probably benign	Het
Etv5	A	T	16: 22,412,847 (GRCm38)	Y138*	probably null	Het
Fdps	A	G	3: 89,101,090 (GRCm38)	S4P	probably damaging	Het
Gart	A	G	16: 91,622,965 (GRCm38)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,879,494 (GRCm38)	H240L	probably damaging	Het
Gm34653	T	G	2: 34,838,425 (GRCm38)	C79G	probably damaging	Het
Gm4553	C	T	7: 142,165,647 (GRCm38)	G15R	unknown	Het
Gm572	C	T	4: 148,668,951 (GRCm38)	T351M	probably damaging	Het
Gpr3	A	T	4: 133,210,437 (GRCm38)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,701,781 (GRCm38)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,094,789 (GRCm38)	H661R	unknown	Het
Heatr4	A	T	12: 83,957,725 (GRCm38)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,663,097 (GRCm38)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,609,331 (GRCm38)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,331,543 (GRCm38)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,260,399 (GRCm38)	V257A	probably benign	Het
Ina	A	T	19: 47,023,643 (GRCm38)	K500I		Het
Lce1i	A	T	3: 92,777,759 (GRCm38)	C37S	unknown	Het
Lrrc59	A	T	11: 94,634,985 (GRCm38)	D133V	probably damaging	Het
Magi3	A	G	3: 104,034,038 (GRCm38)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,269,201 (GRCm38)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,900,128 (GRCm38)	V77F	probably benign	Het
Mrc2	A	G	11: 105,346,459 (GRCm38)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,404,996 (GRCm38)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,011 (GRCm38)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,054,650 (GRCm38)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,194,864 (GRCm38)	V1844A	probably benign	Het
Myh7	C	G	14: 54,988,801 (GRCm38)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,556,241 (GRCm38)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,540,382 (GRCm38)	N362S	probably benign	Het
Ocln	T	A	13: 100,539,598 (GRCm38)	Y129F	probably damaging	Het
Olfr1258	T	C	2: 89,929,881 (GRCm38)	I24T	probably benign	Het
Olfr31	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Olfr898	A	G	9: 38,349,277 (GRCm38)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,079,841 (GRCm38)		probably null	Het
Prss39	A	G	1: 34,502,628 (GRCm38)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,571,643 (GRCm38)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,537,327 (GRCm38)	I640T	possibly damaging	Het
Rogdi	A	G	16: 5,009,234 (GRCm38)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,513,322 (GRCm38)	M283K	probably damaging	Het
Sardh	T	A	2: 27,241,517 (GRCm38)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,504,093 (GRCm38)	E87G	probably damaging	Het
Spink8	G	A	9: 109,816,780 (GRCm38)	V7I	probably benign	Het
Src	G	A	2: 157,457,244 (GRCm38)	V54M	probably benign	Het
Taar2	A	G	10: 23,940,723 (GRCm38)	I54V	probably benign	Het
Tpo	A	T	12: 30,131,860 (GRCm38)	V12E	possibly damaging	Het
Txk	T	C	5: 72,707,575 (GRCm38)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,979,832 (GRCm38)	A2434V	probably null	Het
Vil1	C	T	1: 74,426,595 (GRCm38)	T515M	probably benign	Het
Wdr47	G	T	3: 108,618,521 (GRCm38)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,013,025 (GRCm38)	P335L	unknown	Het
Zfp148	T	A	16: 33,468,175 (GRCm38)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,467,165 (GRCm38)	K448*	probably null	Het
Zfp994	T	C	17: 22,200,425 (GRCm38)	I514M	probably benign	Het
Zp2	A	T	7: 120,135,775 (GRCm38)	I429N	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
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
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
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'- GGCCTTCATGCTTAATGCTTGC -3'
(R):5'- ACACTTTAAGCCCTTTGGAAATCC -3'

Sequencing Primer
(F):5'- CATGCTTAATGCTTGCTTATGTGGC -3'
(R):5'- TGGAAATCCAGTCTTTGCCCGAG -3'

Posted On

2019-11-12