Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01293:Smc1b'

72991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smc1b

Ensembl Gene

ENSMUSG00000022432

Gene Name

structural maintenance of chromosomes 1B

Synonyms

Smc1l2, SMC1beta

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

84948890-85016158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85016099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 14 (S14T)

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023067] [ENSMUST00000023068] [ENSMUST00000229238]

AlphaFold

Q920F6

Predicted Effect

probably benign
Transcript: ENSMUST00000023067

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431

Domain	Start	End	E-Value	Type
Pfam:RIB43A	3	377	9.7e-147	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000023068
AA Change: S14T

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

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: S14T

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: ENSMUST00000229238

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,226 (GRCm39)	V25A	probably benign	Het
Aadacl4fm5	G	T	4: 144,504,159 (GRCm39)	H331N	probably benign	Het
Aagab	T	C	9: 63,543,751 (GRCm39)	V235A	probably benign	Het
Ash1l	T	C	3: 88,890,836 (GRCm39)	V905A	probably benign	Het
Atrx	A	G	X: 104,919,801 (GRCm39)	S641P	probably benign	Het
Bnc1	T	C	7: 81,624,237 (GRCm39)	E330G	probably damaging	Het
Cenpq	A	T	17: 41,244,067 (GRCm39)	S4T	possibly damaging	Het
Clvs1	T	A	4: 9,281,559 (GRCm39)	M1K	probably null	Het
Cul2	A	G	18: 3,419,426 (GRCm39)	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,287,210 (GRCm39)	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,073,934 (GRCm39)	I469L	probably benign	Het
Fhod3	C	T	18: 25,153,709 (GRCm39)		probably benign	Het
Gm1968	A	G	16: 29,777,632 (GRCm39)		noncoding transcript	Het
Hpdl	T	A	4: 116,678,141 (GRCm39)	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,485,376 (GRCm39)	G276D	possibly damaging	Het
Irgq	A	G	7: 24,233,149 (GRCm39)	D330G	probably damaging	Het
Kdm4b	A	G	17: 56,660,019 (GRCm39)	D62G	probably benign	Het
Lama2	T	C	10: 27,107,632 (GRCm39)	T793A	probably benign	Het
Lrrk2	T	C	15: 91,610,340 (GRCm39)	F691L	probably benign	Het
Macf1	C	T	4: 123,365,104 (GRCm39)	G1654E	probably benign	Het
Mgat4c	A	T	10: 102,224,086 (GRCm39)	Y100F	probably benign	Het
Ncapg	A	G	5: 45,839,196 (GRCm39)	N532S	probably benign	Het
Nfkb1	T	C	3: 135,296,600 (GRCm39)	D782G	probably damaging	Het
Nthl1	G	T	17: 24,857,683 (GRCm39)	C294F	probably damaging	Het
Obp2b	A	G	2: 25,627,719 (GRCm39)	H45R	probably benign	Het
Olfm1	A	G	2: 28,104,715 (GRCm39)	E156G	probably damaging	Het
Or14j2	A	G	17: 37,886,308 (GRCm39)	I2T	probably benign	Het
Or7g29	C	A	9: 19,286,632 (GRCm39)	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682 (GRCm39)		probably benign	Het
Patl2	T	C	2: 121,954,291 (GRCm39)	T427A	probably benign	Het
Pdzd8	T	A	19: 59,288,218 (GRCm39)	R1061W	probably damaging	Het
Plk3	A	T	4: 116,990,194 (GRCm39)	L137*	probably null	Het
Rps6ka6	T	C	X: 110,360,059 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,003,660 (GRCm39)	V1784A	possibly damaging	Het
Sox4	C	A	13: 29,136,664 (GRCm39)	R114L	probably damaging	Het
Speg	C	T	1: 75,364,746 (GRCm39)	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,115,788 (GRCm39)	V316A	probably benign	Het
Virma	G	T	4: 11,521,114 (GRCm39)	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,394 (GRCm39)	S203T	probably damaging	Het
Wdr1	T	C	5: 38,686,886 (GRCm39)	T293A	probably benign	Het
Xirp2	C	T	2: 67,345,528 (GRCm39)	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,365,516 (GRCm39)	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,625,351 (GRCm39)	*573W	probably null	Het
Zfp575	G	A	7: 24,285,182 (GRCm39)	P153L	probably 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
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
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

Posted On

2013-10-07