Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Smc6'

638596

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

3830418C19Rik, Smc6l1, 2810489L22Rik

MMRRC Submission

067711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11315887-11369786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11324052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 66 (S66T)

Ref Sequence

ENSEMBL: ENSMUSP00000020931 (fasta)

Gene Model

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

AlphaFold

Q924W5

Predicted Effect

probably benign
Transcript: ENSMUST00000020931
AA Change: S66T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: S66T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 109,927,515 (GRCm39)		probably benign	Het
Adamts3	C	A	5: 89,923,282 (GRCm39)	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,726,315 (GRCm39)	P201S	probably damaging	Het
Ahnak2	A	G	12: 112,742,242 (GRCm39)	V610A	possibly damaging	Het
Ap5s1	A	C	2: 131,054,379 (GRCm39)	H62P	probably benign	Het
Apeh	A	G	9: 107,963,444 (GRCm39)	S593P	probably damaging	Het
Arhgap24	T	C	5: 103,028,692 (GRCm39)	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,706,893 (GRCm39)	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,215,602 (GRCm39)	S271L	probably benign	Het
Atp6v0a1	A	G	11: 100,924,931 (GRCm39)	R339G	probably damaging	Het
Calb2	T	C	8: 110,894,690 (GRCm39)	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,894,689 (GRCm39)	L201R	probably damaging	Het
Car15	A	G	16: 17,654,580 (GRCm39)		probably null	Het
Cecr2	A	G	6: 120,735,077 (GRCm39)	N771S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Csmd1	T	A	8: 16,108,716 (GRCm39)	I1896F	probably damaging	Het
Cubn	C	T	2: 13,491,613 (GRCm39)	V145I	probably benign	Het
Cuedc1	G	A	11: 88,073,381 (GRCm39)	S182N	probably benign	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Cyp7a1	G	A	4: 6,268,295 (GRCm39)	P477S	probably damaging	Het
Dcaf17	T	A	2: 70,885,718 (GRCm39)	W16R		Het
Dhx8	T	A	11: 101,631,571 (GRCm39)	M388K	probably benign	Het
Dnah14	T	A	1: 181,543,780 (GRCm39)	Y2453*	probably null	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,360 (GRCm39)	E148K	probably benign	Het
Hectd4	A	G	5: 121,404,424 (GRCm39)	T434A	possibly damaging	Het
Ide	A	G	19: 37,290,952 (GRCm39)	L368P		Het
Ide	G	C	19: 37,290,953 (GRCm39)	L368V	probably null	Het
Ifi206	T	C	1: 173,308,032 (GRCm39)	I655V		Het
Insrr	A	G	3: 87,721,501 (GRCm39)	M1136V	probably damaging	Het
Kcne2	A	G	16: 92,093,707 (GRCm39)	E78G	probably damaging	Het
Lrrc23	A	T	6: 124,755,267 (GRCm39)	L90H	probably damaging	Het
Magel2	A	C	7: 62,028,875 (GRCm39)	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,239,468 (GRCm39)	H153Y	possibly damaging	Het
Msln	A	G	17: 25,967,880 (GRCm39)	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,995,703 (GRCm39)		probably null	Het
Myo7a	T	G	7: 97,726,376 (GRCm39)	M966L	probably benign	Het
Ncoa5	C	T	2: 164,854,982 (GRCm39)	D47N	possibly damaging	Het
Neurl4	T	A	11: 69,800,206 (GRCm39)		probably null	Het
Or1e29	T	A	11: 73,667,839 (GRCm39)	M105L	probably benign	Het
Or4d1	T	C	11: 87,805,589 (GRCm39)	T48A	probably benign	Het
Or5p75-ps1	T	A	7: 108,108,125 (GRCm39)	H287Q	unknown	Het
Or8b37	T	A	9: 37,959,000 (GRCm39)	C161S	probably benign	Het
Osbpl7	T	A	11: 96,947,405 (GRCm39)	S480T	probably benign	Het
Podnl1	T	C	8: 84,858,552 (GRCm39)	L484P		Het
Polr3gl	G	T	3: 96,489,228 (GRCm39)		probably benign	Het
Prkaa1	G	T	15: 5,206,563 (GRCm39)	V438L	possibly damaging	Het
Prune2	A	T	19: 17,100,373 (GRCm39)	H1959L	probably benign	Het
Rad50	A	T	11: 53,589,685 (GRCm39)	L172*	probably null	Het
Samsn1	C	A	16: 75,685,684 (GRCm39)	G25W	probably damaging	Het
Sbno1	T	G	5: 124,542,068 (GRCm39)	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Slc35f5	T	G	1: 125,490,252 (GRCm39)	Y49*	probably null	Het
Slc41a2	T	C	10: 83,137,044 (GRCm39)	I288V	probably benign	Het
Slc9c1	A	G	16: 45,403,344 (GRCm39)	M804V	probably benign	Het
Ssh1	T	C	5: 114,080,445 (GRCm39)	D995G	probably benign	Het
Stk11	G	T	10: 79,961,740 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,748,353 (GRCm39)	I813T	probably benign	Het
Tmem121b	A	T	6: 120,469,722 (GRCm39)	S332T	possibly damaging	Het
Treml4	A	C	17: 48,581,456 (GRCm39)	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524 (GRCm39)	C1117*	probably null	Het
Wdr35	A	G	12: 9,058,020 (GRCm39)	I526V	probably benign	Het
Zap70	T	C	1: 36,820,218 (GRCm39)	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,357 (GRCm39)	V49F	noncoding transcript	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11,349,264 (GRCm39)	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11,351,532 (GRCm39)	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11,351,532 (GRCm39)	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11,341,659 (GRCm39)	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11,340,752 (GRCm39)	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11,333,179 (GRCm39)	unclassified	probably benign
R0365:Smc6	UTSW	12	11,333,175 (GRCm39)	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11,339,165 (GRCm39)	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11,340,818 (GRCm39)	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11,321,880 (GRCm39)	splice site	probably benign
R1509:Smc6	UTSW	12	11,329,734 (GRCm39)	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11,367,854 (GRCm39)	missense	probably benign	0.05
R1775:Smc6	UTSW	12	11,359,270 (GRCm39)	missense	probably benign	0.00
R1815:Smc6	UTSW	12	11,344,602 (GRCm39)	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11,349,399 (GRCm39)	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11,339,987 (GRCm39)	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11,326,294 (GRCm39)	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11,326,294 (GRCm39)	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11,339,982 (GRCm39)	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11,351,517 (GRCm39)	splice site	probably benign
R3967:Smc6	UTSW	12	11,348,327 (GRCm39)	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11,324,075 (GRCm39)	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11,324,008 (GRCm39)	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11,332,431 (GRCm39)	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11,335,400 (GRCm39)	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11,341,540 (GRCm39)	missense	probably benign	0.31
R5643:Smc6	UTSW	12	11,339,995 (GRCm39)	missense	probably benign	0.18
R5644:Smc6	UTSW	12	11,339,995 (GRCm39)	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11,340,835 (GRCm39)	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11,356,179 (GRCm39)	missense	probably benign	0.04
R6083:Smc6	UTSW	12	11,326,354 (GRCm39)	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11,347,107 (GRCm39)	intron	probably benign
R6374:Smc6	UTSW	12	11,355,874 (GRCm39)	splice site	probably null
R6430:Smc6	UTSW	12	11,359,235 (GRCm39)	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11,347,011 (GRCm39)	splice site	probably null
R6767:Smc6	UTSW	12	11,321,821 (GRCm39)	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11,359,301 (GRCm39)	missense	probably damaging	1.00
R7128:Smc6	UTSW	12	11,351,632 (GRCm39)	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11,321,808 (GRCm39)	missense	probably benign
R7698:Smc6	UTSW	12	11,333,141 (GRCm39)	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11,367,844 (GRCm39)	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11,339,130 (GRCm39)	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11,349,336 (GRCm39)	missense	probably benign	0.01
R8229:Smc6	UTSW	12	11,341,673 (GRCm39)	missense	probably benign	0.25
R9233:Smc6	UTSW	12	11,359,291 (GRCm39)	missense	probably benign	0.15
R9596:Smc6	UTSW	12	11,345,045 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCCAGGTCTTTTAAAGGCTATAG -3'
(R):5'- TCTAGGAAGCCATAAAGTATAGTCC -3'

Sequencing Primer
(F):5'- GGCCGTTAAAGTTACTATTGCACAC -3'
(R):5'- AGCGAAGGCACTTACTTC -3'

Posted On

2020-07-28