Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Smc6'

312610

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

MMRRC Submission

040939-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11274074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 73 (F73L)

Ref Sequence

ENSEMBL: ENSMUSP00000151976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000217906] [ENSMUST00000218022] [ENSMUST00000218866] [ENSMUST00000219776]

AlphaFold

Q924W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020931
AA Change: F73L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: F73L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217906

Predicted Effect

unknown
Transcript: ENSMUST00000218022
AA Change: F73L

Predicted Effect

probably damaging
Transcript: ENSMUST00000218866
AA Change: F73L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219041

Predicted Effect

probably benign
Transcript: ENSMUST00000219776

Meta Mutation Damage Score

0.7747

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,547,729	Y416*	probably null	Het
Akr1b10	G	T	6: 34,392,496		probably null	Het
Arap2	G	T	5: 62,748,894	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,631,433	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,480,072	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173		probably null	Het
Ceacam16	C	A	7: 19,853,612	Q410H	probably damaging	Het
Cenpe	A	G	3: 135,235,225		probably null	Het
Cenpe	T	C	3: 135,238,472		probably null	Het
Clca1	A	T	3: 145,032,639	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992	S2027P	possibly damaging	Het
Fam129a	T	C	1: 151,649,335	Y164H	probably damaging	Het
Fbxo18	T	C	2: 11,767,210	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834	V171D	probably damaging	Het
Gm9825	A	T	6: 7,983,149		noncoding transcript	Het
Golgb1	T	G	16: 36,918,571	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,570,985		probably null	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747		probably null	Het
Lrba	T	C	3: 86,351,255	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070	V157A	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,875	S439P	probably damaging	Het
Olfr1090	T	A	2: 86,754,543	H65L	probably damaging	Het
Olfr134	A	G	17: 38,175,495	N137S	probably benign	Het
Olfr141	G	A	2: 86,806,460	P180S	possibly damaging	Het
Olfr693	T	C	7: 106,677,785	R234G	probably damaging	Het
Orm3	A	T	4: 63,356,158		probably null	Het
Otof	A	G	5: 30,370,712	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366	S1379T	possibly damaging	Het
Rp1l1	T	A	14: 64,030,309	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930	V32A	probably benign	Het
Sorbs2	T	C	8: 45,772,710		probably null	Het
Svbp	T	A	4: 119,195,893	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567		probably benign	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653		probably benign	Het
Umodl1	C	A	17: 30,984,789	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,559,332	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169	G295D	probably benign	Het
Wisp3	C	G	10: 39,155,098	C143S	probably damaging	Het
Zim1	A	T	7: 6,677,130	H511Q	probably damaging	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
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
R8229:Smc6	UTSW	12	11291672	missense	probably benign	0.25
R8289:Smc6	UTSW	12	11274051	missense	probably benign	0.41
R9233:Smc6	UTSW	12	11309290	missense	probably benign	0.15
R9596:Smc6	UTSW	12	11295044	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCGTTAAAGTTACTATTGCACAC -3'
(R):5'- AGATGCATGCAGACAGTCATATAC -3'

Sequencing Primer
(F):5'- ACTGTTGGTCTGTCAGAT -3'
(R):5'- GCATGCAGACAGTCATATACATAAAG -3'

Posted On

2015-04-30