Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Smc1b'

235012

Institutional Source

Beutler Lab

Gene Symbol

Smc1b

Ensembl Gene

ENSMUSG00000022432

Gene Name

structural maintenance of chromosomes 1B

Synonyms

Smc1l2, SMC1beta

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84948890-85016158 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 85006052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

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

AlphaFold

Q920F6

Predicted Effect

probably benign
Transcript: ENSMUST00000023068

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432

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

noncoding transcript
Transcript: ENSMUST00000105085

SMART Domains

Protein: ENSMUSP00000100709
Gene: ENSMUSG00000078289

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23eN	13	64	1.4e-26	PFAM
Pfam:Ribosomal_L23	72	139	4e-18	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly damaging	Het

Other mutations in Smc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Smc1b	APN	15	85,013,901 (GRCm39)	missense	possibly damaging	0.95
IGL01293:Smc1b	APN	15	85,016,099 (GRCm39)	missense	probably damaging	1.00
IGL01656:Smc1b	APN	15	84,998,977 (GRCm39)	missense	probably damaging	0.99
IGL01807:Smc1b	APN	15	84,980,946 (GRCm39)	missense	probably damaging	0.97
IGL02094:Smc1b	APN	15	84,982,092 (GRCm39)	splice site	probably benign
IGL02121:Smc1b	APN	15	84,982,186 (GRCm39)	missense	probably benign
IGL02631:Smc1b	APN	15	84,991,204 (GRCm39)	missense	probably damaging	0.98
IGL02678:Smc1b	APN	15	84,949,201 (GRCm39)	nonsense	probably null
IGL03197:Smc1b	APN	15	84,955,064 (GRCm39)	missense	possibly damaging	0.85
IGL03214:Smc1b	APN	15	84,982,147 (GRCm39)	nonsense	probably null
IGL03218:Smc1b	APN	15	84,973,914 (GRCm39)	missense	probably benign	0.07
IGL03232:Smc1b	APN	15	85,013,921 (GRCm39)	missense	possibly damaging	0.68
adamantine	UTSW	15	85,005,842 (GRCm39)	missense	probably benign	0.06
unbreakable	UTSW	15	84,980,859 (GRCm39)	missense	probably benign
E0370:Smc1b	UTSW	15	85,011,782 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Smc1b	UTSW	15	84,953,852 (GRCm39)	missense	possibly damaging	0.91
R0092:Smc1b	UTSW	15	84,951,925 (GRCm39)	unclassified	probably benign
R0106:Smc1b	UTSW	15	84,955,020 (GRCm39)	missense	probably damaging	1.00
R0106:Smc1b	UTSW	15	84,955,020 (GRCm39)	missense	probably damaging	1.00
R0207:Smc1b	UTSW	15	85,007,960 (GRCm39)	missense	probably benign
R0390:Smc1b	UTSW	15	84,950,478 (GRCm39)	missense	probably damaging	1.00
R0440:Smc1b	UTSW	15	84,996,874 (GRCm39)	splice site	probably benign
R0685:Smc1b	UTSW	15	84,955,021 (GRCm39)	missense	possibly damaging	0.92
R1109:Smc1b	UTSW	15	84,997,016 (GRCm39)	missense	probably damaging	0.98
R1392:Smc1b	UTSW	15	84,991,271 (GRCm39)	splice site	probably benign
R1509:Smc1b	UTSW	15	84,970,335 (GRCm39)	missense	probably benign
R1804:Smc1b	UTSW	15	85,011,991 (GRCm39)	missense	possibly damaging	0.90
R1879:Smc1b	UTSW	15	84,976,268 (GRCm39)	missense	probably benign	0.01
R2086:Smc1b	UTSW	15	85,006,052 (GRCm39)	splice site	probably benign
R2143:Smc1b	UTSW	15	85,008,003 (GRCm39)	missense	probably benign
R2174:Smc1b	UTSW	15	85,006,052 (GRCm39)	splice site	probably benign
R2471:Smc1b	UTSW	15	84,976,218 (GRCm39)	missense	probably damaging	0.98
R3689:Smc1b	UTSW	15	85,001,464 (GRCm39)	intron	probably benign
R3690:Smc1b	UTSW	15	85,001,464 (GRCm39)	intron	probably benign
R4178:Smc1b	UTSW	15	85,004,848 (GRCm39)	missense	possibly damaging	0.94
R4420:Smc1b	UTSW	15	84,997,031 (GRCm39)	missense	probably damaging	1.00
R4905:Smc1b	UTSW	15	84,950,428 (GRCm39)	missense	probably damaging	1.00
R4919:Smc1b	UTSW	15	85,001,305 (GRCm39)	intron	probably benign
R5114:Smc1b	UTSW	15	84,949,185 (GRCm39)	missense	probably damaging	1.00
R5314:Smc1b	UTSW	15	84,955,066 (GRCm39)	missense	probably benign	0.00
R5476:Smc1b	UTSW	15	84,970,352 (GRCm39)	missense	probably damaging	0.97
R5593:Smc1b	UTSW	15	85,005,842 (GRCm39)	missense	probably benign	0.06
R5690:Smc1b	UTSW	15	84,996,974 (GRCm39)	missense	probably damaging	1.00
R5719:Smc1b	UTSW	15	84,980,859 (GRCm39)	missense	probably benign
R5817:Smc1b	UTSW	15	84,951,984 (GRCm39)	missense	probably damaging	0.99
R5834:Smc1b	UTSW	15	84,973,866 (GRCm39)	missense	probably damaging	1.00
R5930:Smc1b	UTSW	15	84,970,322 (GRCm39)	missense	probably damaging	1.00
R6032:Smc1b	UTSW	15	84,950,430 (GRCm39)	missense	possibly damaging	0.92
R6032:Smc1b	UTSW	15	84,950,430 (GRCm39)	missense	possibly damaging	0.92
R6049:Smc1b	UTSW	15	85,005,896 (GRCm39)	missense	probably damaging	1.00
R6306:Smc1b	UTSW	15	85,011,824 (GRCm39)	missense	probably benign	0.30
R6392:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6426:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6435:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6436:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6437:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6508:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6512:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6703:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6737:Smc1b	UTSW	15	84,976,232 (GRCm39)	missense	probably benign	0.03
R6775:Smc1b	UTSW	15	84,973,881 (GRCm39)	missense	probably damaging	0.96
R6889:Smc1b	UTSW	15	84,951,960 (GRCm39)	missense	probably damaging	1.00
R6908:Smc1b	UTSW	15	84,991,211 (GRCm39)	missense	probably damaging	1.00
R7124:Smc1b	UTSW	15	84,955,798 (GRCm39)	missense	probably damaging	0.98
R7400:Smc1b	UTSW	15	84,953,921 (GRCm39)	missense	probably damaging	1.00
R7417:Smc1b	UTSW	15	84,981,743 (GRCm39)	missense	probably benign	0.05
R7610:Smc1b	UTSW	15	84,955,021 (GRCm39)	missense	possibly damaging	0.92
R7873:Smc1b	UTSW	15	84,994,851 (GRCm39)	critical splice donor site	probably null
R7890:Smc1b	UTSW	15	84,950,529 (GRCm39)	missense	probably damaging	1.00
R8004:Smc1b	UTSW	15	84,981,815 (GRCm39)	missense	probably damaging	0.98
R8698:Smc1b	UTSW	15	84,997,047 (GRCm39)	missense	probably benign	0.16
R8826:Smc1b	UTSW	15	84,950,529 (GRCm39)	missense	probably damaging	1.00
R8835:Smc1b	UTSW	15	85,013,949 (GRCm39)	missense	possibly damaging	0.83
R8925:Smc1b	UTSW	15	84,991,273 (GRCm39)	splice site	probably null
R9059:Smc1b	UTSW	15	85,004,875 (GRCm39)	nonsense	probably null
R9149:Smc1b	UTSW	15	84,950,431 (GRCm39)	missense	probably benign	0.00
R9241:Smc1b	UTSW	15	84,976,209 (GRCm39)	missense	probably benign	0.00
R9245:Smc1b	UTSW	15	85,004,846 (GRCm39)	missense	probably benign	0.03
R9301:Smc1b	UTSW	15	85,011,995 (GRCm39)	missense	probably damaging	0.98
R9384:Smc1b	UTSW	15	84,950,455 (GRCm39)	missense	probably damaging	0.99
R9750:Smc1b	UTSW	15	85,016,106 (GRCm39)	missense	probably damaging	1.00
Z1176:Smc1b	UTSW	15	85,016,104 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGTTCTGCCACTAAGG -3'
(R):5'- GATATGCCTAACAATCTCTGCAAG -3'

Sequencing Primer
(F):5'- GCTCGTATGCCATCTTCCTG -3'
(R):5'- CAAAATTGCTTTCATTTTGGCCAGGG -3'

Posted On

2014-10-01