Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Smc5'

53224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smc5

Ensembl Gene

ENSMUSG00000024943

Gene Name

structural maintenance of chromosomes 5

Synonyms

Smc5l1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

23206451-23273897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23231601 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 703 (R703W)

Ref Sequence

ENSEMBL: ENSMUSP00000153364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087556
AA Change: R703W

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: R703W

Domain	Start	End	E-Value	Type
Pfam:SMC_N	52	1057	9.2e-19	PFAM
Pfam:AAA_23	55	456	1.2e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223934
AA Change: R703W

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000226111
AA Change: R627W

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Smc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Smc5	APN	19	23235965	missense	probably damaging	1.00
IGL01315:Smc5	APN	19	23231604	missense	probably benign
IGL01879:Smc5	APN	19	23228184	missense	probably damaging	0.97
IGL01902:Smc5	APN	19	23259768	missense	possibly damaging	0.85
IGL02016:Smc5	APN	19	23273712	missense	probably benign	0.00
IGL02186:Smc5	APN	19	23231859	missense	probably damaging	1.00
IGL02383:Smc5	APN	19	23214632	splice site	probably benign
IGL02447:Smc5	APN	19	23257492	missense	probably benign	0.01
IGL02534:Smc5	APN	19	23228172	critical splice donor site	probably null
IGL02834:Smc5	APN	19	23257604	missense	probably benign	0.30
IGL03290:Smc5	APN	19	23273658	missense	probably benign	0.19
R0722:Smc5	UTSW	19	23208927	missense	probably damaging	0.99
R0893:Smc5	UTSW	19	23263653	missense	possibly damaging	0.67
R0970:Smc5	UTSW	19	23238998	missense	probably damaging	1.00
R1281:Smc5	UTSW	19	23235883	missense	probably benign
R1368:Smc5	UTSW	19	23210443	missense	probably damaging	1.00
R2092:Smc5	UTSW	19	23238899	missense	probably benign
R3721:Smc5	UTSW	19	23210492	missense	probably benign	0.21
R4382:Smc5	UTSW	19	23268846	missense	probably benign	0.39
R4735:Smc5	UTSW	19	23242705	missense	probably benign
R4936:Smc5	UTSW	19	23234003	missense	probably damaging	1.00
R5306:Smc5	UTSW	19	23259645	critical splice donor site	probably null
R5754:Smc5	UTSW	19	23244103	missense	possibly damaging	0.92
R6175:Smc5	UTSW	19	23214170	missense	possibly damaging	0.60
R6313:Smc5	UTSW	19	23208948	nonsense	probably null
R6527:Smc5	UTSW	19	23228190	missense	probably benign	0.00
R6611:Smc5	UTSW	19	23228919	missense	probably benign	0.13
R6750:Smc5	UTSW	19	23242640	missense	probably damaging	1.00
R6801:Smc5	UTSW	19	23214646	missense	probably benign	0.34
R6821:Smc5	UTSW	19	23242787	missense	probably benign	0.20
R7002:Smc5	UTSW	19	23231883	missense	probably benign	0.00
R7198:Smc5	UTSW	19	23259700	nonsense	probably null
R7386:Smc5	UTSW	19	23215175	missense	possibly damaging	0.59
R7439:Smc5	UTSW	19	23242700	missense	probably damaging	0.97
R7596:Smc5	UTSW	19	23214169	missense	probably damaging	0.99
R7666:Smc5	UTSW	19	23229017	missense	probably benign	0.15
R7760:Smc5	UTSW	19	23235890	missense	probably benign	0.01
R8255:Smc5	UTSW	19	23208926	missense

Posted On

2013-06-21