Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Smc1b'

449502

Institutional Source

Beutler Lab

Gene Symbol

Smc1b

Ensembl Gene

ENSMUSG00000022432

Gene Name

structural maintenance of chromosomes 1B

Synonyms

SMC1beta, Smc1l2

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85064689-85131964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85089665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 930 (L930R)

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023068] [ENSMUST00000227591]

AlphaFold

Q920F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023068
AA Change: L930R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: L930R

Domain	Start	End	E-Value	Type
Pfam:AAA_23	7	361	2e-10	PFAM
Pfam:AAA_21	27	372	7.2e-9	PFAM
low complexity region	422	437	N/A	INTRINSIC
SMC_hinge	513	629	1.5e-23	SMART
PDB:1W1W\|D	1046	1218	3e-42	PDB
Blast:AAA	1063	1217	5e-25	BLAST
SCOP:d1e69a_	1114	1202	3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227591

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	A	8: 105,282,123	Q421*	probably null	Het
Abca13	T	C	11: 9,277,974		probably null	Het
Adamts20	A	C	15: 94,353,584	S441A	probably damaging	Het
Aen	T	A	7: 78,907,301	M299K	probably damaging	Het
Akap3	T	C	6: 126,865,833	S472P	probably benign	Het
Ank3	T	G	10: 69,822,257	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,981,162	D324G	probably benign	Het
Aste1	A	T	9: 105,403,415	R448S	probably benign	Het
Atp10a	T	A	7: 58,658,618	L55Q	probably benign	Het
C1qtnf9	G	A	14: 60,779,450	G143D	probably damaging	Het
Camsap2	A	G	1: 136,280,388	V1122A	probably benign	Het
Cbl	T	C	9: 44,233,779	H37R	probably damaging	Het
Cfap61	A	C	2: 146,129,149	D893A	probably benign	Het
Chd2	T	A	7: 73,478,715	I841F	probably damaging	Het
Chd9	A	G	8: 90,997,164	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,748,577	Y1028H	probably benign	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,042,067	I448V	probably benign	Het
Cyth1	T	A	11: 118,192,463		probably null	Het
Dcaf13	C	T	15: 39,143,642	R324*	probably null	Het
Dhx37	C	A	5: 125,425,730	R42L	probably damaging	Het
Dock1	T	A	7: 134,763,933	V450E	probably damaging	Het
Ednrb	A	G	14: 103,820,877	L330P	probably damaging	Het
Eml4	T	A	17: 83,477,741	H778Q	probably damaging	Het
Evx1	T	A	6: 52,315,990	I227N	probably damaging	Het
G3bp1	T	A	11: 55,497,940	V326E	probably benign	Het
Gata2	T	C	6: 88,200,747	V253A	probably benign	Het
Gbp2	A	G	3: 142,633,377	N397D	probably damaging	Het
Gm14401	C	A	2: 177,086,903	H261N	probably benign	Het
Hacd4	A	T	4: 88,398,152	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,852,939	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ift27	A	T	15: 78,165,243	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Irs3	T	A	5: 137,644,559	S206C	probably damaging	Het
Lefty2	C	T	1: 180,893,151		probably benign	Het
Mark3	A	G	12: 111,624,487	I162V	probably damaging	Het
Mefv	A	C	16: 3,716,046	D120E	probably damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mre11a	A	G	9: 14,799,657	I45V	probably benign	Het
Mtor	A	G	4: 148,536,536	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,532,406	M393R	probably benign	Het
Nod2	T	C	8: 88,664,639	S510P	possibly damaging	Het
Nos2	C	T	11: 78,928,579	T39I	probably benign	Het
Olfr474	T	A	7: 107,954,906	H88Q	probably benign	Het
Olfr93	A	T	17: 37,151,799	Y58N	probably damaging	Het
Pcdh7	A	G	5: 57,721,628	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,012,623	V589A	probably damaging	Het
Plaa	A	C	4: 94,583,469	V10G	probably damaging	Het
Pprc1	T	A	19: 46,065,220		probably benign	Het
Ptprt	T	C	2: 161,560,269	Y994C	probably damaging	Het
Ripply2	T	A	9: 87,015,890	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,158,382	D1227G	probably damaging	Het
Scoc	C	T	8: 83,437,631	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,854,273	I732N	probably damaging	Het
Six2	T	C	17: 85,687,664	K97E	probably damaging	Het
Slit2	A	C	5: 48,259,647	N1014H	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Spata31	C	T	13: 64,922,666	S876L	probably benign	Het
Spen	A	G	4: 141,471,843	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,184,797		probably null	Het
Stk3	G	A	15: 34,959,018	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,877	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,306,310	M212T	probably damaging	Het
Trpc7	A	G	13: 56,776,158	L738P	probably damaging	Het
Ttll8	A	G	15: 88,917,246	V413A	possibly damaging	Het
Usb1	G	A	8: 95,333,533		probably benign	Het
Vmn1r238	T	C	18: 3,123,168	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,310,625	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 42,116,508	P13H	probably benign	Het
Wdr26	A	G	1: 181,203,147	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,073,330	Q636*	probably null	Het
Zfyve26	A	G	12: 79,266,537	Y25H	probably benign	Het

Other mutations in Smc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Smc1b	APN	15	85129700	missense	possibly damaging	0.95
IGL01293:Smc1b	APN	15	85131898	missense	probably damaging	1.00
IGL01656:Smc1b	APN	15	85114776	missense	probably damaging	0.99
IGL01807:Smc1b	APN	15	85096745	missense	probably damaging	0.97
IGL02094:Smc1b	APN	15	85097891	splice site	probably benign
IGL02121:Smc1b	APN	15	85097985	missense	probably benign
IGL02631:Smc1b	APN	15	85107003	missense	probably damaging	0.98
IGL02678:Smc1b	APN	15	85065000	nonsense	probably null
IGL03197:Smc1b	APN	15	85070863	missense	possibly damaging	0.85
IGL03214:Smc1b	APN	15	85097946	nonsense	probably null
IGL03218:Smc1b	APN	15	85089713	missense	probably benign	0.07
IGL03232:Smc1b	APN	15	85129720	missense	possibly damaging	0.68
adamantine	UTSW	15	85121641	missense	probably benign	0.06
unbreakable	UTSW	15	85096658	missense	probably benign
E0370:Smc1b	UTSW	15	85127581	missense	probably damaging	1.00
PIT4812001:Smc1b	UTSW	15	85069651	missense	possibly damaging	0.91
R0092:Smc1b	UTSW	15	85067724	unclassified	probably benign
R0106:Smc1b	UTSW	15	85070819	missense	probably damaging	1.00
R0106:Smc1b	UTSW	15	85070819	missense	probably damaging	1.00
R0207:Smc1b	UTSW	15	85123759	missense	probably benign
R0390:Smc1b	UTSW	15	85066277	missense	probably damaging	1.00
R0440:Smc1b	UTSW	15	85112673	splice site	probably benign
R0685:Smc1b	UTSW	15	85070820	missense	possibly damaging	0.92
R1109:Smc1b	UTSW	15	85112815	missense	probably damaging	0.98
R1392:Smc1b	UTSW	15	85107070	splice site	probably benign
R1509:Smc1b	UTSW	15	85086134	missense	probably benign
R1804:Smc1b	UTSW	15	85127790	missense	possibly damaging	0.90
R1879:Smc1b	UTSW	15	85092067	missense	probably benign	0.01
R2086:Smc1b	UTSW	15	85121851	splice site	probably benign
R2143:Smc1b	UTSW	15	85123802	missense	probably benign
R2158:Smc1b	UTSW	15	85121851	splice site	probably benign
R2174:Smc1b	UTSW	15	85121851	splice site	probably benign
R2471:Smc1b	UTSW	15	85092017	missense	probably damaging	0.98
R3689:Smc1b	UTSW	15	85117263	intron	probably benign
R3690:Smc1b	UTSW	15	85117263	intron	probably benign
R4178:Smc1b	UTSW	15	85120647	missense	possibly damaging	0.94
R4420:Smc1b	UTSW	15	85112830	missense	probably damaging	1.00
R4905:Smc1b	UTSW	15	85066227	missense	probably damaging	1.00
R4919:Smc1b	UTSW	15	85117104	intron	probably benign
R5114:Smc1b	UTSW	15	85064984	missense	probably damaging	1.00
R5314:Smc1b	UTSW	15	85070865	missense	probably benign	0.00
R5476:Smc1b	UTSW	15	85086151	missense	probably damaging	0.97
R5593:Smc1b	UTSW	15	85121641	missense	probably benign	0.06
R5690:Smc1b	UTSW	15	85112773	missense	probably damaging	1.00
R5719:Smc1b	UTSW	15	85096658	missense	probably benign
R5817:Smc1b	UTSW	15	85067783	missense	probably damaging	0.99
R5930:Smc1b	UTSW	15	85086121	missense	probably damaging	1.00
R6032:Smc1b	UTSW	15	85066229	missense	possibly damaging	0.92
R6032:Smc1b	UTSW	15	85066229	missense	possibly damaging	0.92
R6049:Smc1b	UTSW	15	85121695	missense	probably damaging	1.00
R6306:Smc1b	UTSW	15	85127623	missense	probably benign	0.30
R6392:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6426:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6435:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6436:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6437:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6508:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6512:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6703:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6737:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6775:Smc1b	UTSW	15	85089680	missense	probably damaging	0.96
R6889:Smc1b	UTSW	15	85067759	missense	probably damaging	1.00
R6908:Smc1b	UTSW	15	85107010	missense	probably damaging	1.00
R7124:Smc1b	UTSW	15	85071597	missense	probably damaging	0.98
R7400:Smc1b	UTSW	15	85069720	missense	probably damaging	1.00
R7417:Smc1b	UTSW	15	85097542	missense	probably benign	0.05
R7610:Smc1b	UTSW	15	85070820	missense	possibly damaging	0.92
R7873:Smc1b	UTSW	15	85110650	critical splice donor site	probably null
R7890:Smc1b	UTSW	15	85066328	missense	probably damaging	1.00
R8004:Smc1b	UTSW	15	85097614	missense	probably damaging	0.98
R8698:Smc1b	UTSW	15	85112846	missense	probably benign	0.16
R8826:Smc1b	UTSW	15	85066328	missense	probably damaging	1.00
R8835:Smc1b	UTSW	15	85129748	missense	possibly damaging	0.83
R8925:Smc1b	UTSW	15	85107072	splice site	probably null
R9059:Smc1b	UTSW	15	85120674	nonsense	probably null
R9149:Smc1b	UTSW	15	85066230	missense	probably benign	0.00
R9241:Smc1b	UTSW	15	85092008	missense	probably benign	0.00
R9245:Smc1b	UTSW	15	85120645	missense	probably benign	0.03
R9301:Smc1b	UTSW	15	85127794	missense	probably damaging	0.98
R9384:Smc1b	UTSW	15	85066254	missense	probably damaging	0.99
R9750:Smc1b	UTSW	15	85131905	missense	probably damaging	1.00
Z1176:Smc1b	UTSW	15	85131903	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGACCAATTGAGAAACCCTAC -3'
(R):5'- CTGGCACTTGGAACTCTCATAG -3'

Sequencing Primer
(F):5'- GACCAATTGAGAAACCCTACTTTTC -3'
(R):5'- TGGCACTTGGAACTCTCATAGGAAAG -3'

Posted On

2016-12-20