Mutagenetix > Incidental Mutations

Incidental Mutation 'R8229:Smc6'

640955

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11291672 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 564 (S564T)

Ref Sequence

ENSEMBL: ENSMUSP00000020931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020931]

Predicted Effect

probably benign
Transcript: ENSMUST00000020931
AA Change: S564T

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: S564T

Domain	Start	End	E-Value	Type
Pfam:SMC_N	53	1077	4.7e-17	PFAM
Pfam:AAA_15	54	438	3.1e-9	PFAM
Pfam:AAA_23	56	398	5e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (41/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 24,711,738	M203K	probably damaging	Het
Arhgap23	G	A	11: 97,453,906	V565I	probably benign	Het
D6Wsu163e	G	T	6: 126,967,003	R454L	probably benign	Het
Def6	A	G	17: 28,217,755	D131G	probably damaging	Het
Erc1	T	C	6: 119,753,288	T616A	probably benign	Het
Ermard	T	A	17: 15,059,334		probably benign	Het
Fsip2	T	C	2: 82,978,143	L1602P	possibly damaging	Het
Gli1	C	T	10: 127,332,448	R512Q	possibly damaging	Het
Gm6034	A	G	17: 36,056,376	T38A	unknown	Het
H2-M10.1	T	C	17: 36,324,039	I325V	probably benign	Het
Inf2	A	G	12: 112,611,596	D1107G	unknown	Het
Iws1	A	G	18: 32,084,687	N448S	probably benign	Het
Klhl24	T	C	16: 20,114,571	Y311H	possibly damaging	Het
Lama3	C	T	18: 12,407,551	A304V	probably benign	Het
Limch1	A	G	5: 67,028,795	E646G	probably damaging	Het
Lrrc8c	T	A	5: 105,606,536	V59E	probably benign	Het
Lrrn4	G	A	2: 132,869,887	T672I	probably damaging	Het
Magi3	C	A	3: 104,015,701	E1233D	possibly damaging	Het
Magi3	T	C	3: 104,015,702	E1233G	probably benign	Het
Mgat5b	A	T	11: 116,947,387	K284M	probably benign	Het
Nedd4	G	T	9: 72,731,388	K485N	probably benign	Het
Olfr1141	A	T	2: 87,753,064	C310S	probably benign	Het
Olfr1219	T	A	2: 89,075,038	N18Y	possibly damaging	Het
Olfr1453	A	G	19: 13,028,197	I44T	possibly damaging	Het
Olfr480	C	T	7: 108,066,587	M70I	probably benign	Het
Otud4	A	G	8: 79,673,975	H1106R	unknown	Het
Pcdha7	C	A	18: 36,974,723	S267*	probably null	Het
Pcdhb11	A	G	18: 37,422,618	I334V	probably benign	Het
Phf11b	A	T	14: 59,331,281	L61Q	probably damaging	Het
Prepl	T	C	17: 85,081,261	D138G	probably benign	Het
Sipa1l1	T	C	12: 82,437,848	V1592A	probably damaging	Het
Spty2d1	A	G	7: 46,997,774	V469A	probably benign	Het
Trim11	G	A	11: 58,981,341		probably benign	Het
Ttll7	T	A	3: 146,901,449	I158K	probably damaging	Het
Ugt3a2	A	G	15: 9,367,377	E402G	probably damaging	Het
Usp33	T	C	3: 152,370,292	V383A	probably benign	Het
Ythdc1	A	G	5: 86,809,308		probably benign	Het
Ywhab	T	G	2: 164,014,095	Y130*	probably null	Het
Zfp609	T	C	9: 65,703,500	K727R	possibly damaging	Het
Zscan30	A	C	18: 23,971,680	L37R	noncoding transcript	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11299263	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11291658	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11290751	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11283178	unclassified	probably benign
R0365:Smc6	UTSW	12	11283174	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11289164	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11290817	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11271879	splice site	probably benign
R1509:Smc6	UTSW	12	11279733	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11317853	missense	probably benign	0.05
R1775:Smc6	UTSW	12	11309269	missense	probably benign	0.00
R1815:Smc6	UTSW	12	11294601	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11299398	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11289986	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11289981	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11301516	splice site	probably benign
R3967:Smc6	UTSW	12	11298326	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11274074	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11274007	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11282430	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11285399	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11291539	missense	probably benign	0.31
R5643:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5644:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11290834	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11306178	missense	probably benign	0.04
R6083:Smc6	UTSW	12	11276353	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11297106	intron	probably benign
R6374:Smc6	UTSW	12	11305873	splice site	probably null
R6430:Smc6	UTSW	12	11309234	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11297010	splice site	probably null
R6767:Smc6	UTSW	12	11271820	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11309300	missense	probably damaging	1.00
R7128:Smc6	UTSW	12	11301631	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11271807	missense	probably benign
R7698:Smc6	UTSW	12	11283140	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11317843	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11289129	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11299335	missense	probably benign	0.01
R8289:Smc6	UTSW	12	11274051	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CAAGTTCTTCTAGGGAGTGATCTC -3'
(R):5'- AAGAGTTTTGGCTATCATCCCC -3'

Sequencing Primer
(F):5'- GTGATCTCTCTGTAGGACGATATTAC -3'
(R):5'- TCCCCTTTAGAAGAAAACAGTTCTGC -3'

Posted On

2020-07-28