Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Smc1b'

31643

Institutional Source

Beutler Lab

Gene Symbol

Smc1b

Ensembl Gene

ENSMUSG00000022432

Gene Name

structural maintenance of chromosomes 1B

Synonyms

Smc1l2, SMC1beta

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84948890-85016158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84950478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1182 (I1182N)

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023068] [ENSMUST00000023069] [ENSMUST00000227591] [ENSMUST00000229203]

AlphaFold

Q920F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023068
AA Change: I1182N

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

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: I1182N

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: ENSMUST00000023069

SMART Domains

Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434

Domain	Start	End	E-Value	Type
Pfam:SIR2_2	142	286	7.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227591

Predicted Effect

probably benign
Transcript: ENSMUST00000229203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229691

Meta Mutation Damage Score

0.6617

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,359,849 (GRCm39)	M183T	probably damaging	Het
Apob	A	T	12: 8,038,678 (GRCm39)	I364F	probably damaging	Het
Arl6	A	T	16: 59,442,784 (GRCm39)		probably benign	Het
Cand2	A	G	6: 115,751,614 (GRCm39)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,112,302 (GRCm39)	F131S	probably damaging	Het
Ccdc74a	A	G	16: 17,468,340 (GRCm39)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,358,006 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,418,789 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,344,620 (GRCm39)	E479G	probably benign	Het
Chrm2	T	G	6: 36,501,046 (GRCm39)	I301R	probably benign	Het
Clec2e	A	G	6: 129,070,431 (GRCm39)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,458,218 (GRCm39)	S96*	probably null	Het
Col19a1	A	G	1: 24,328,736 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,027,466 (GRCm39)		probably benign	Het
Cthrc1	A	T	15: 38,950,159 (GRCm39)	*172L	probably null	Het
Cul9	A	T	17: 46,839,515 (GRCm39)	I821N	probably benign	Het
Daam1	G	C	12: 72,022,078 (GRCm39)		probably benign	Het
Dhx58	A	T	11: 100,590,090 (GRCm39)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,091,794 (GRCm39)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,320,454 (GRCm39)	D50G	probably damaging	Het
Dmxl1	C	A	18: 50,012,429 (GRCm39)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,730,558 (GRCm39)	P315L	probably damaging	Het
Ep300	T	C	15: 81,524,317 (GRCm39)	S1382P	unknown	Het
Fat2	A	T	11: 55,201,603 (GRCm39)	N490K	probably damaging	Het
Flg2	T	A	3: 93,107,662 (GRCm39)		probably benign	Het
Gpatch1	T	C	7: 34,980,806 (GRCm39)		probably benign	Het
Grin2a	C	A	16: 9,397,449 (GRCm39)	K879N	possibly damaging	Het
Hacd3	A	C	9: 64,908,304 (GRCm39)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,210,245 (GRCm39)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 93,945,335 (GRCm39)		probably benign	Het
Hsd3b1	A	T	3: 98,760,355 (GRCm39)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,264,093 (GRCm39)		probably null	Het
Igf2bp2	A	G	16: 21,900,551 (GRCm39)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 34,931,459 (GRCm39)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,551,597 (GRCm39)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,540,620 (GRCm39)	D308V	probably benign	Het
Larp4b	T	A	13: 9,208,143 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm39)	T11S	probably benign	Het
Man1c1	A	G	4: 134,305,626 (GRCm39)	L366P	probably damaging	Het
Mef2a	A	G	7: 66,901,472 (GRCm39)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,366,458 (GRCm39)	H474Y	possibly damaging	Het
Minar2	T	A	18: 59,208,760 (GRCm39)	V136E	probably damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm39)	D352G	probably benign	Het
Mns1	T	C	9: 72,360,086 (GRCm39)	I412T	probably damaging	Het
Mon2	T	C	10: 122,842,926 (GRCm39)	D1501G	probably null	Het
Mylk	G	T	16: 34,695,990 (GRCm39)	G242W	probably damaging	Het
Nav1	T	C	1: 135,377,704 (GRCm39)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,362,310 (GRCm39)	S2P	probably damaging	Het
Nek3	A	T	8: 22,618,745 (GRCm39)		probably benign	Het
Nfrkb	A	G	9: 31,300,193 (GRCm39)		probably benign	Het
Nlrp4d	T	C	7: 10,122,705 (GRCm39)	D53G	probably benign	Het
Nol8	T	C	13: 49,815,628 (GRCm39)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,352,866 (GRCm39)		probably benign	Het
Odad3	T	A	9: 21,903,004 (GRCm39)	H442L	probably benign	Het
Ofcc1	T	A	13: 40,168,789 (GRCm39)	D866V	possibly damaging	Het
Optn	A	G	2: 5,051,006 (GRCm39)	L125P	probably benign	Het
Or5k3	A	G	16: 58,969,662 (GRCm39)	I150V	probably benign	Het
Otoa	T	A	7: 120,730,564 (GRCm39)	F588Y	probably benign	Het
Pappa	T	A	4: 65,269,850 (GRCm39)		probably null	Het
Pde5a	T	G	3: 122,629,232 (GRCm39)	C635W	probably damaging	Het
Pdgfb	A	T	15: 79,887,620 (GRCm39)		probably null	Het
Pih1d2	T	A	9: 50,532,346 (GRCm39)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,594,286 (GRCm39)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,567,619 (GRCm39)		probably benign	Het
Pramel26	T	A	4: 143,538,269 (GRCm39)	D234V	probably benign	Het
Prdm10	G	A	9: 31,260,564 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prss56	T	G	1: 87,112,452 (GRCm39)		probably null	Het
Prtg	A	G	9: 72,752,240 (GRCm39)	K209E	probably benign	Het
Ptprc	G	A	1: 138,050,313 (GRCm39)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 28,845,285 (GRCm39)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,318,858 (GRCm39)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,763,197 (GRCm39)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,415,987 (GRCm39)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,180,451 (GRCm39)	K434R	probably damaging	Het
Rims1	C	T	1: 22,635,607 (GRCm39)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,333,473 (GRCm39)	V746A	probably benign	Het
Rtl1	C	T	12: 109,557,820 (GRCm39)	E1340K	unknown	Het
Sacs	G	A	14: 61,443,089 (GRCm39)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,103,402 (GRCm39)	P19S	probably benign	Het
Samhd1	T	C	2: 156,956,151 (GRCm39)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,500,410 (GRCm39)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm39)	A4T	probably benign	Het
Skint9	C	A	4: 112,246,376 (GRCm39)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,512,832 (GRCm39)	L372P	probably damaging	Het
Smyd3	A	G	1: 178,785,138 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,491,648 (GRCm39)	D417G	probably benign	Het
Sv2c	T	C	13: 96,225,216 (GRCm39)	N31S	probably benign	Het
Tjp1	T	C	7: 64,964,738 (GRCm39)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,010,014 (GRCm39)	D182G	probably damaging	Het
Traf6	C	T	2: 101,518,933 (GRCm39)	Q141*	probably null	Het
Ttn	T	C	2: 76,587,275 (GRCm39)	D21574G	probably damaging	Het
Uba2	T	A	7: 33,850,446 (GRCm39)	N367I	probably benign	Het
Ube2b	T	C	11: 51,879,429 (GRCm39)		probably benign	Het
Ubr5	G	T	15: 38,030,916 (GRCm39)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,612,007 (GRCm39)	H301L	probably benign	Het
Upf2	T	A	2: 6,023,705 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,585,804 (GRCm39)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,800,140 (GRCm39)	D734G	probably damaging	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vwf	T	A	6: 125,603,324 (GRCm39)	Y891*	probably null	Het
Wwox	C	T	8: 115,433,018 (GRCm39)	T228I	probably benign	Het
Zer1	C	T	2: 29,998,225 (GRCm39)		probably benign	Het
Zfp180	C	T	7: 23,804,132 (GRCm39)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,605,487 (GRCm39)	Y279N	probably benign	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
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
R2158:Smc1b	UTSW	15	85,006,052 (GRCm39)	splice site	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'- CCCACTGTAGGAACCCAAGAATGTC -3'
(R):5'- GCTTCCTTGGAATTGAGCTTCCTGA -3'

Sequencing Primer
(F):5'- GAATGTCTACAAACTCCTGGATTG -3'
(R):5'- atccacctgcctctgcc -3'

Posted On

2013-04-24