Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Smc1b'

14151

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 #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

84948890-85016158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85013901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 90 (E90G)

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

possibly damaging
Transcript: ENSMUST00000023068
AA Change: E90G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: E90G

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,324 (GRCm39)	L41P	probably damaging	Het
Baz1b	A	G	5: 135,268,886 (GRCm39)	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,291,774 (GRCm39)	I188F	probably benign	Het
Dpf1	A	T	7: 29,012,333 (GRCm39)	K18*	probably null	Het
Drosha	T	A	15: 12,834,045 (GRCm39)	Y50N	unknown	Het
Eif2s1	T	A	12: 78,931,611 (GRCm39)		probably benign	Het
Gde1	T	C	7: 118,297,925 (GRCm39)	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,754,980 (GRCm39)	V252M	probably damaging	Het
Megf10	G	A	18: 57,425,782 (GRCm39)	R1056Q	probably benign	Het
Myo3b	A	C	2: 69,935,989 (GRCm39)		probably benign	Het
Ralbp1	T	C	17: 66,171,718 (GRCm39)	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,175,116 (GRCm39)	M58I	possibly damaging	Het
Skor1	C	A	9: 63,046,820 (GRCm39)	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,767,527 (GRCm39)	Q292R	possibly damaging	Het
Zmym2	T	C	14: 57,140,668 (GRCm39)	V169A	probably benign	Het

Other mutations in Smc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06