Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03232:Smc1b'

413930

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: 0.696) question?

Stock #

IGL03232

Quality Score

Status

Chromosome

Chromosomal Location

84948890-85016158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85013921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 83 (I83M)

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: I83M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: I83M

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c19	A	G	13: 4,288,462 (GRCm39)	T147A	probably damaging	Het
Bdp1	A	G	13: 100,187,989 (GRCm39)	L1532S	probably damaging	Het
Btbd3	G	A	2: 138,126,063 (GRCm39)	A416T	probably damaging	Het
Cacna1e	C	T	1: 154,369,104 (GRCm39)	R311H	probably damaging	Het
Cers2	T	G	3: 95,227,468 (GRCm39)	V32G	probably damaging	Het
Cimip2a	A	T	2: 25,111,751 (GRCm39)	R277*	probably null	Het
Cog4	A	G	8: 111,607,314 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,350,731 (GRCm39)	G870C	probably damaging	Het
Dmxl1	C	T	18: 50,011,247 (GRCm39)	H1135Y	probably benign	Het
Esr1	A	C	10: 4,919,270 (GRCm39)	K453N	probably damaging	Het
Gprc5d	T	C	6: 135,093,662 (GRCm39)	I82V	probably benign	Het
H3c3	T	G	13: 23,929,164 (GRCm39)	E106A	probably damaging	Het
Hmcn1	A	G	1: 150,646,103 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,496,446 (GRCm39)	T17A	probably damaging	Het
Lrp1	C	T	10: 127,375,245 (GRCm39)	A4452T	probably damaging	Het
Morc1	A	G	16: 48,451,165 (GRCm39)	E948G	probably benign	Het
Mug1	A	G	6: 121,855,494 (GRCm39)	K943E	probably benign	Het
Or5b109	T	A	19: 13,212,341 (GRCm39)	C242*	probably null	Het
Or5b12b	C	A	19: 12,861,636 (GRCm39)	Y130*	probably null	Het
Or5p73	A	G	7: 108,064,812 (GRCm39)	T94A	probably benign	Het
Rab21	T	C	10: 115,130,767 (GRCm39)		probably benign	Het
Selenoi	T	C	5: 30,461,259 (GRCm39)	F140S	probably damaging	Het
Serpini1	T	C	3: 75,545,317 (GRCm39)		probably benign	Het
Sgip1	T	C	4: 102,772,251 (GRCm39)		probably benign	Het
Smg7	T	C	1: 152,715,907 (GRCm39)	Y1061C	probably damaging	Het
Thbs2	A	T	17: 14,911,675 (GRCm39)	M1K	probably null	Het
Ubqlnl	A	G	7: 103,797,836 (GRCm39)	S554P	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
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

2016-08-02