Mutagenetix > Incidental Mutations

Incidental Mutation 'R4905:Smc1b'

378136

Institutional Source

Beutler Lab

Gene Symbol

Smc1b

Ensembl Gene

ENSMUSG00000022432

Gene Name

structural maintenance of chromosomes 1B

Synonyms

SMC1beta, Smc1l2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85064689-85131964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85066227 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1199 (Y1199H)

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023068
AA Change: Y1199H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: Y1199H

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,612,818		probably null	Het
1700123L14Rik	T	A	6: 96,165,930	R44S	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
9530053A07Rik	A	T	7: 28,156,983	K2065M	possibly damaging	Het
Abcc5	A	G	16: 20,399,928	S235P	probably damaging	Het
Abcc6	T	C	7: 45,995,225	N842S	probably benign	Het
Acbd6	G	A	1: 155,624,923	V210I	probably benign	Het
Ahctf1	A	T	1: 179,748,627	V2130D	probably damaging	Het
Akap5	A	G	12: 76,328,433	E213G	probably damaging	Het
Alyref	T	G	11: 120,596,053		probably null	Het
Anapc5	G	T	5: 122,817,910	N152K	probably benign	Het
Atp8b2	A	T	3: 89,949,008	D416E	probably benign	Het
AW551984	A	T	9: 39,597,158	V354E	probably damaging	Het
Bag6	A	G	17: 35,145,186	E844G	probably damaging	Het
Bmp1	C	T	14: 70,491,362	R590H	probably benign	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Col6a6	A	G	9: 105,767,424	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,365,774	G118S	probably damaging	Het
Dnah9	G	A	11: 65,874,124	R1414*	probably null	Het
Dnaic1	A	G	4: 41,614,269	D315G	probably benign	Het
Eogt	T	C	6: 97,142,831	R139G	probably benign	Het
Fh1	C	T	1: 175,619,073	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,724,556	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,985,640	R219L	probably damaging	Het
Gm1123	T	C	9: 99,009,316	D360G	probably benign	Het
Ift81	C	T	5: 122,591,079		probably null	Het
Itsn2	A	G	12: 4,634,583		probably benign	Het
Kri1	A	T	9: 21,287,702	H55Q	probably benign	Het
Mcidas	C	A	13: 112,994,417	A92E	possibly damaging	Het
Mcidas	C	T	13: 112,997,504	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,644,048	G130*	probably null	Het
Myh11	G	A	16: 14,250,523	T211M	probably benign	Het
Myo10	A	G	15: 25,800,212	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,254,904	T154A	probably damaging	Het
Nfatc4	T	C	14: 55,830,582	I620T	probably benign	Het
Nos3	A	T	5: 24,367,331	Y134F	probably benign	Het
Olfr1459	C	A	19: 13,146,177	A161S	probably benign	Het
Olfr273	T	C	4: 52,855,613	N300S	probably damaging	Het
Olfr575	A	T	7: 102,955,514	I36N	probably damaging	Het
Olfr799	T	A	10: 129,647,923	V265E	possibly damaging	Het
Pax9	G	T	12: 56,696,626	R19S	probably damaging	Het
Pcdha9	T	C	18: 36,998,892	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,157,411	T1730K	probably damaging	Het
Rac1	A	G	5: 143,517,152		probably null	Het
Samsn1	G	T	16: 75,876,465	F174L	possibly damaging	Het
Scaf1	G	A	7: 45,012,705	T86M	probably damaging	Het
Svep1	A	G	4: 58,069,308	I2826T	probably benign	Het
Tex36	A	G	7: 133,587,453	V130A	probably damaging	Het
Tigd5	A	G	15: 75,911,403	H538R	probably damaging	Het
Tlr3	C	A	8: 45,399,223		probably null	Het
Tubb2b	A	T	13: 34,128,204	I202N	probably damaging	Het
Unc13c	A	G	9: 73,680,392	V1453A	probably benign	Het
Unc5c	A	T	3: 141,801,310	T608S	probably benign	Het
Vrk1	C	A	12: 106,051,828	H119N	probably damaging	Het
Wdr53	T	A	16: 32,256,658	M227K	probably benign	Het
Xpo4	T	C	14: 57,638,289	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,796,650	I224T	probably damaging	Het
Zdhhc1	T	A	8: 105,483,694	E30D	probably damaging	Het
Zscan29	C	G	2: 121,161,383	R540T	possibly damaging	Het

Other mutations in Smc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Smc1b	APN	15	85129700	missense	possibly damaging	0.95
IGL01293:Smc1b	APN	15	85131898	missense	probably damaging	1.00
IGL01656:Smc1b	APN	15	85114776	missense	probably damaging	0.99
IGL01807:Smc1b	APN	15	85096745	missense	probably damaging	0.97
IGL02094:Smc1b	APN	15	85097891	splice site	probably benign
IGL02121:Smc1b	APN	15	85097985	missense	probably benign
IGL02631:Smc1b	APN	15	85107003	missense	probably damaging	0.98
IGL02678:Smc1b	APN	15	85065000	nonsense	probably null
IGL03197:Smc1b	APN	15	85070863	missense	possibly damaging	0.85
IGL03214:Smc1b	APN	15	85097946	nonsense	probably null
IGL03218:Smc1b	APN	15	85089713	missense	probably benign	0.07
IGL03232:Smc1b	APN	15	85129720	missense	possibly damaging	0.68
adamantine	UTSW	15	85121641	missense	probably benign	0.06
unbreakable	UTSW	15	85096658	missense	probably benign
E0370:Smc1b	UTSW	15	85127581	missense	probably damaging	1.00
PIT4812001:Smc1b	UTSW	15	85069651	missense	possibly damaging	0.91
R0092:Smc1b	UTSW	15	85067724	unclassified	probably benign
R0106:Smc1b	UTSW	15	85070819	missense	probably damaging	1.00
R0106:Smc1b	UTSW	15	85070819	missense	probably damaging	1.00
R0207:Smc1b	UTSW	15	85123759	missense	probably benign
R0390:Smc1b	UTSW	15	85066277	missense	probably damaging	1.00
R0440:Smc1b	UTSW	15	85112673	splice site	probably benign
R0685:Smc1b	UTSW	15	85070820	missense	possibly damaging	0.92
R1109:Smc1b	UTSW	15	85112815	missense	probably damaging	0.98
R1392:Smc1b	UTSW	15	85107070	splice site	probably benign
R1509:Smc1b	UTSW	15	85086134	missense	probably benign
R1804:Smc1b	UTSW	15	85127790	missense	possibly damaging	0.90
R1879:Smc1b	UTSW	15	85092067	missense	probably benign	0.01
R2086:Smc1b	UTSW	15	85121851	splice site	probably benign
R2143:Smc1b	UTSW	15	85123802	missense	probably benign
R2158:Smc1b	UTSW	15	85121851	splice site	probably benign
R2174:Smc1b	UTSW	15	85121851	splice site	probably benign
R2471:Smc1b	UTSW	15	85092017	missense	probably damaging	0.98
R3689:Smc1b	UTSW	15	85117263	intron	probably benign
R3690:Smc1b	UTSW	15	85117263	intron	probably benign
R4178:Smc1b	UTSW	15	85120647	missense	possibly damaging	0.94
R4420:Smc1b	UTSW	15	85112830	missense	probably damaging	1.00
R4919:Smc1b	UTSW	15	85117104	intron	probably benign
R5114:Smc1b	UTSW	15	85064984	missense	probably damaging	1.00
R5314:Smc1b	UTSW	15	85070865	missense	probably benign	0.00
R5476:Smc1b	UTSW	15	85086151	missense	probably damaging	0.97
R5593:Smc1b	UTSW	15	85121641	missense	probably benign	0.06
R5690:Smc1b	UTSW	15	85112773	missense	probably damaging	1.00
R5719:Smc1b	UTSW	15	85096658	missense	probably benign
R5817:Smc1b	UTSW	15	85067783	missense	probably damaging	0.99
R5834:Smc1b	UTSW	15	85089665	missense	probably damaging	1.00
R5930:Smc1b	UTSW	15	85086121	missense	probably damaging	1.00
R6032:Smc1b	UTSW	15	85066229	missense	possibly damaging	0.92
R6032:Smc1b	UTSW	15	85066229	missense	possibly damaging	0.92
R6049:Smc1b	UTSW	15	85121695	missense	probably damaging	1.00
R6306:Smc1b	UTSW	15	85127623	missense	probably benign	0.30
R6392:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6426:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6435:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6436:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6437:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6508:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6512:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6703:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6737:Smc1b	UTSW	15	85092031	missense	probably benign	0.03
R6775:Smc1b	UTSW	15	85089680	missense	probably damaging	0.96
R6889:Smc1b	UTSW	15	85067759	missense	probably damaging	1.00
R6908:Smc1b	UTSW	15	85107010	missense	probably damaging	1.00
R7124:Smc1b	UTSW	15	85071597	missense	probably damaging	0.98
R7400:Smc1b	UTSW	15	85069720	missense	probably damaging	1.00
R7417:Smc1b	UTSW	15	85097542	missense	probably benign	0.05
R7610:Smc1b	UTSW	15	85070820	missense	possibly damaging	0.92
R7873:Smc1b	UTSW	15	85110650	critical splice donor site	probably null
R7890:Smc1b	UTSW	15	85066328	missense	probably damaging	1.00
R8004:Smc1b	UTSW	15	85097614	missense	probably damaging	0.98
Z1176:Smc1b	UTSW	15	85131903	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACATATTTACTCGTGTGTGGGG -3'
(R):5'- TTGTTCCCAGAGCCCAAAGG -3'

Sequencing Primer
(F):5'- ACGTGGGTCTCAGTGATCAAACTC -3'
(R):5'- AGCCCAAAGGAGGCCTTG -3'

Posted On

2016-04-15