Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Smchd1'

561350

Institutional Source

Beutler Lab

Gene Symbol

Smchd1

Ensembl Gene

ENSMUSG00000024054

Gene Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik, MommeD1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R7214 (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 C at 71345364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 2000 (R2000G)

Ref Sequence

ENSEMBL: ENSMUSP00000121835 (fasta)

Gene Model

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

AlphaFold

Q6P5D8

Predicted Effect

probably benign
Transcript: ENSMUST00000127430
AA Change: R2000G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: R2000G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 94,934,018	T95I		Het
Arap2	C	T	5: 62,749,338	V113I	probably benign	Het
Arntl	T	A	7: 113,299,403	I346K	probably benign	Het
Atraid	C	T	5: 31,052,246	Q85*	probably null	Het
BC005561	A	G	5: 104,522,363	T1584A	probably benign	Het
Bcdin3d	T	C	15: 99,470,463	D285G	probably benign	Het
Carmil3	T	C	14: 55,498,612	W604R	probably damaging	Het
Ccl6	C	T	11: 83,589,756		probably null	Het
Cct4	C	T	11: 22,990,616		probably benign	Het
Cd2ap	C	T	17: 42,845,394	R84Q	possibly damaging	Het
Cdt1	T	A	8: 122,568,273		probably null	Het
Cln3	C	T	7: 126,582,770	G40D	probably damaging	Het
Crlf3	T	C	11: 80,064,390	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,830,637	K193R	probably benign	Het
Cxcl3	A	C	5: 90,786,360	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,836,859	D362G	probably benign	Het
Dnah2	T	C	11: 69,431,109	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,922,742	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,701,182	I380N	possibly damaging	Het
Dock10	T	A	1: 80,568,529	H785L	probably benign	Het
Dopey2	T	G	16: 93,810,135	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,670,139	I419F	probably benign	Het
Dyrk4	T	A	6: 126,885,237	I431F	probably benign	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
Endog	C	T	2: 30,172,890	R181C	probably damaging	Het
Fam90a1a	A	T	8: 21,963,625	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,589,380	I588T	probably benign	Het
Galnt9	G	A	5: 110,589,828	V217I	probably benign	Het
Gm973	A	T	1: 59,562,729	R501*	probably null	Het
Gnptab	C	T	10: 88,379,157		probably benign	Het
Gpn1	T	C	5: 31,503,417	F184S	probably damaging	Het
Imp3	G	T	9: 56,937,723	V73L	probably benign	Het
Ipo11	T	C	13: 106,895,857	D259G	probably null	Het
Jag1	T	C	2: 137,106,882	S142G	probably benign	Het
Klhl5	A	T	5: 65,131,755	E120V	probably benign	Het
Lct	C	A	1: 128,300,460	V1099L	probably benign	Het
Lrba	G	C	3: 86,328,326	W912C	probably damaging	Het
Lss	C	T	10: 76,547,471	T535I	probably damaging	Het
Mcts2	T	C	2: 152,687,377	I36T	probably benign	Het
Meikin	T	A	11: 54,411,912	N383K	probably benign	Het
Myo1g	T	C	11: 6,511,055	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,254	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfat5	T	C	8: 107,293,883	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,123,293	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,551,038	V76A	probably damaging	Het
Nrap	C	A	19: 56,378,135	A341S	probably benign	Het
Ntng2	T	C	2: 29,227,720	S239G	probably damaging	Het
Nup188	T	A	2: 30,307,554	C207S	possibly damaging	Het
Olfr1077-ps1	C	T	2: 86,525,806	V124I	probably damaging	Het
Olfr1328	T	A	4: 118,933,949	I300F	possibly damaging	Het
Olfr1474	T	A	19: 13,470,973	M1K	probably null	Het
Olfr17	T	C	7: 107,098,412	*316R	probably null	Het
Olfr346	T	C	2: 36,688,095	I31T	probably benign	Het
Olfr705	T	C	7: 106,874,267		probably benign	Het
Olfr891	A	C	9: 38,180,022	V267G	probably damaging	Het
Pcdhgb2	C	A	18: 37,690,106	A50E	probably damaging	Het
Pgap1	A	T	1: 54,543,061	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,612,831	D463V	probably damaging	Het
Plcg2	T	A	8: 117,583,549	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,137,285	W184R	probably damaging	Het
Pptc7	G	A	5: 122,313,777	V202I	probably benign	Het
Prpf6	C	T	2: 181,640,596	A510V	probably damaging	Het
Prr5l	T	C	2: 101,729,432	Y235C	probably benign	Het
Ptprk	T	C	10: 28,574,909	V1022A	probably benign	Het
Rbl2	T	C	8: 91,083,429		probably null	Het
Rmnd1	T	C	10: 4,410,753	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Sacs	T	A	14: 61,191,792	N433K	probably benign	Het
Scyl1	T	C	19: 5,760,029	T590A	probably benign	Het
Sdhd	A	G	9: 50,597,233	V111A	possibly damaging	Het
Sec24b	G	T	3: 130,033,860	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,664,145	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,759,473	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,919,502	M490I	probably benign	Het
Slx4	A	G	16: 3,988,980	I533T	probably benign	Het
Slx4ip	T	A	2: 137,046,730	F110L	probably benign	Het
Snx8	T	C	5: 140,360,253	E75G	possibly damaging	Het
Stab2	C	A	10: 86,899,841	C1292F	probably damaging	Het
Swt1	A	T	1: 151,394,613	M617K	possibly damaging	Het
Tiam2	T	A	17: 3,518,412	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,661,822	N682T	probably benign	Het
Trio	C	T	15: 27,871,187	V674M	probably damaging	Het
Trpc3	G	A	3: 36,650,137	T557M	possibly damaging	Het
Vac14	T	G	8: 110,671,042	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,253,380		probably null	Het
Wdr49	A	T	3: 75,358,444	Y232N	possibly damaging	Het
Wdr90	T	C	17: 25,845,393	M1835V	probably benign	Het
Xpc	T	C	6: 91,492,338	E809G	probably damaging	Het
Zfhx3	A	T	8: 108,948,861	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,409,281	T234A	probably benign	Het
Zfp764	A	T	7: 127,405,278	M227K	probably benign	Het
Zfp957	A	G	14: 79,213,310	S350P	unknown	Het
Zscan29	T	A	2: 121,169,280	K147*	probably null	Het

Other mutations in Smchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Smchd1	APN	17	71465673	splice site	probably benign
IGL00529:Smchd1	APN	17	71394799	missense	probably benign	0.30
IGL00642:Smchd1	APN	17	71390432	missense	probably damaging	1.00
IGL00821:Smchd1	APN	17	71398623	missense	possibly damaging	0.92
IGL01330:Smchd1	APN	17	71436788	missense	probably benign
IGL01432:Smchd1	APN	17	71431290	missense	probably damaging	1.00
IGL01473:Smchd1	APN	17	71389750	missense	probably benign	0.00
IGL01705:Smchd1	APN	17	71381398	missense	probably damaging	1.00
IGL01787:Smchd1	APN	17	71391418	missense	probably damaging	0.99
IGL01814:Smchd1	APN	17	71378187	missense	probably benign	0.01
IGL01976:Smchd1	APN	17	71394725	nonsense	probably null
IGL01995:Smchd1	APN	17	71444020	missense	probably damaging	0.98
IGL02090:Smchd1	APN	17	71431253	missense	possibly damaging	0.86
IGL02302:Smchd1	APN	17	71358133	splice site	probably benign
IGL02309:Smchd1	APN	17	71443903	missense	probably benign	0.32
IGL02391:Smchd1	APN	17	71431259	missense	probably null	1.00
IGL02515:Smchd1	APN	17	71440957	missense	probably damaging	1.00
IGL02644:Smchd1	APN	17	71360021	splice site	probably benign
IGL03081:Smchd1	APN	17	71360191	missense	probably damaging	0.98
IGL03212:Smchd1	APN	17	71443891	missense	probably damaging	0.99
IGL03236:Smchd1	APN	17	71391430	missense	possibly damaging	0.88
IGL03297:Smchd1	APN	17	71349700	missense	probably benign	0.01
Dry_tortugas	UTSW	17	71440956	missense	probably damaging	1.00
R0049:Smchd1	UTSW	17	71431236	missense	probably benign	0.01
R0254:Smchd1	UTSW	17	71411891	missense	probably benign	0.00
R0391:Smchd1	UTSW	17	71403154	missense	probably damaging	1.00
R0403:Smchd1	UTSW	17	71394902	missense	probably damaging	1.00
R0499:Smchd1	UTSW	17	71387088	missense	probably benign
R0520:Smchd1	UTSW	17	71429543	missense	possibly damaging	0.85
R0616:Smchd1	UTSW	17	71379574	missense	probably benign	0.39
R1120:Smchd1	UTSW	17	71358146	nonsense	probably null
R1469:Smchd1	UTSW	17	71349730	missense	probably damaging	1.00
R1469:Smchd1	UTSW	17	71349730	missense	probably damaging	1.00
R1473:Smchd1	UTSW	17	71361837	splice site	probably benign
R1484:Smchd1	UTSW	17	71378257	missense	probably benign	0.31
R1501:Smchd1	UTSW	17	71365094	missense	possibly damaging	0.54
R1718:Smchd1	UTSW	17	71448833	missense	possibly damaging	0.46
R1765:Smchd1	UTSW	17	71400201	splice site	probably benign
R1766:Smchd1	UTSW	17	71391379	missense	probably damaging	0.99
R1803:Smchd1	UTSW	17	71387006	missense	probably damaging	0.99
R1829:Smchd1	UTSW	17	71370337	missense	probably damaging	1.00
R1850:Smchd1	UTSW	17	71389771	missense	probably damaging	0.99
R1917:Smchd1	UTSW	17	71407237	missense	possibly damaging	0.48
R1918:Smchd1	UTSW	17	71407237	missense	possibly damaging	0.48
R1936:Smchd1	UTSW	17	71463791	missense	probably damaging	1.00
R2024:Smchd1	UTSW	17	71370928	missense	probably benign	0.15
R2147:Smchd1	UTSW	17	71398588	missense	possibly damaging	0.93
R2180:Smchd1	UTSW	17	71463799	missense	probably benign	0.23
R2398:Smchd1	UTSW	17	71360141	missense	probably damaging	1.00
R2398:Smchd1	UTSW	17	71426436	splice site	probably benign
R2935:Smchd1	UTSW	17	71411905	missense	probably damaging	1.00
R3000:Smchd1	UTSW	17	71363038	missense	probably benign	0.00
R3021:Smchd1	UTSW	17	71387098	missense	possibly damaging	0.75
R3808:Smchd1	UTSW	17	71429541	missense	probably damaging	1.00
R4323:Smchd1	UTSW	17	71428275	missense	probably benign	0.00
R4486:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4487:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4488:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4489:Smchd1	UTSW	17	71407235	missense	probably benign	0.02
R4723:Smchd1	UTSW	17	71436747	nonsense	probably null
R4751:Smchd1	UTSW	17	71391468	missense	probably benign	0.01
R4798:Smchd1	UTSW	17	71360053	nonsense	probably null
R4814:Smchd1	UTSW	17	71411768	critical splice donor site	probably null
R4882:Smchd1	UTSW	17	71358239	intron	probably benign
R5088:Smchd1	UTSW	17	71431348	missense	possibly damaging	0.86
R5589:Smchd1	UTSW	17	71440961	missense	probably damaging	1.00
R5618:Smchd1	UTSW	17	71455727	missense	probably damaging	1.00
R5839:Smchd1	UTSW	17	71394862	missense	probably damaging	0.98
R5994:Smchd1	UTSW	17	71365409	missense	possibly damaging	0.89
R6009:Smchd1	UTSW	17	71440956	missense	probably damaging	1.00
R6042:Smchd1	UTSW	17	71377057	nonsense	probably null
R6082:Smchd1	UTSW	17	71349719	missense	probably benign	0.09
R6126:Smchd1	UTSW	17	71370285	missense	probably damaging	1.00
R6294:Smchd1	UTSW	17	71370927	missense	probably benign	0.13
R6788:Smchd1	UTSW	17	71475101	missense	probably benign	0.02
R6853:Smchd1	UTSW	17	71436743	missense	probably damaging	1.00
R6875:Smchd1	UTSW	17	71353506	missense	probably damaging	1.00
R7026:Smchd1	UTSW	17	71349667	missense	probably benign
R7045:Smchd1	UTSW	17	71415044	missense	probably benign	0.22
R7068:Smchd1	UTSW	17	71387092	missense	probably benign	0.00
R7085:Smchd1	UTSW	17	71365219	splice site	probably null
R7089:Smchd1	UTSW	17	71361960	missense	probably benign	0.00
R7145:Smchd1	UTSW	17	71378207	missense	probably benign
R7158:Smchd1	UTSW	17	71400150	missense	probably damaging	0.99
R7180:Smchd1	UTSW	17	71394823	missense	probably damaging	0.99
R7183:Smchd1	UTSW	17	71353516	missense	probably benign	0.00
R7414:Smchd1	UTSW	17	71475079	missense	probably damaging	0.99
R7512:Smchd1	UTSW	17	71381369	missense	possibly damaging	0.51
R7631:Smchd1	UTSW	17	71398689	missense	probably benign	0.10
R7641:Smchd1	UTSW	17	71390479	missense	probably benign	0.00
R7709:Smchd1	UTSW	17	71358198	missense	probably damaging	1.00
R7768:Smchd1	UTSW	17	71411911	missense	probably damaging	1.00
R7789:Smchd1	UTSW	17	71475301	start gained	probably benign
R7898:Smchd1	UTSW	17	71377818	splice site	probably null
R7965:Smchd1	UTSW	17	71455626	missense	possibly damaging	0.65
R8177:Smchd1	UTSW	17	71390453	missense	probably benign	0.28
R8359:Smchd1	UTSW	17	71431243	missense	probably damaging	0.99
R8370:Smchd1	UTSW	17	71394913	missense	probably benign	0.22
R8426:Smchd1	UTSW	17	71448603	missense	probably damaging	1.00
R8443:Smchd1	UTSW	17	71407249	missense	probably benign	0.18
R8948:Smchd1	UTSW	17	71436772	missense	probably damaging	1.00
R8954:Smchd1	UTSW	17	71448757	missense	probably damaging	1.00
R9041:Smchd1	UTSW	17	71394715	critical splice donor site	probably null
R9054:Smchd1	UTSW	17	71363022	nonsense	probably null
R9141:Smchd1	UTSW	17	71365130	missense	probably benign	0.00
R9169:Smchd1	UTSW	17	71415664	missense	probably damaging	1.00
R9231:Smchd1	UTSW	17	71365089	missense	probably benign	0.05
R9368:Smchd1	UTSW	17	71387076	missense	probably damaging	1.00
R9374:Smchd1	UTSW	17	71411848	missense	possibly damaging	0.61
R9416:Smchd1	UTSW	17	71394796	missense	probably benign	0.27
R9426:Smchd1	UTSW	17	71365130	missense	probably benign	0.00
R9491:Smchd1	UTSW	17	71360025	critical splice donor site	probably null
R9511:Smchd1	UTSW	17	71443904	missense	possibly damaging	0.65
R9591:Smchd1	UTSW	17	71394833	missense	probably damaging	1.00
R9593:Smchd1	UTSW	17	71394833	missense	probably damaging	1.00
Z1176:Smchd1	UTSW	17	71361841	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TACATTTGCAAGCCAGCCAC -3'
(R):5'- AGTTAGAGCAGAGTTCATGTGATAG -3'

Sequencing Primer
(F):5'- AAGCCAGCCACCGACGG -3'
(R):5'- TTCTGAAACGATCAAGGAGTTTAGG -3'

Posted On

2019-06-26