Mutagenetix > Incidental Mutation

Incidental Mutation 'R0792:Slc30a6'

82487

Institutional Source

Beutler Lab

Gene Symbol

Slc30a6

Ensembl Gene

ENSMUSG00000024069

Gene Name

solute carrier family 30 (zinc transporter), member 6

Synonyms

ZnT-6, ZnT6

MMRRC Submission

038972-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R0792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74702603-74731216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74722640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

Ref Sequence

ENSEMBL: ENSMUSP00000136503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000179074]

AlphaFold

Q8BJM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024870
AA Change: S231P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069
AA Change: S231P

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	336	6.9e-45	PFAM
low complexity region	371	392	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179074
AA Change: S236P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069
AA Change: S236P

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	260	5.7e-30	PFAM
low complexity region	376	397	N/A	INTRINSIC

Meta Mutation Damage Score

0.2938

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ahnak	G	T	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Ap3d1	A	T	10: 80,544,313 (GRCm39)	H1161Q	probably benign	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bdnf	G	A	2: 109,554,463 (GRCm39)	C239Y	probably damaging	Het
Bpifa5	G	T	2: 154,007,539 (GRCm39)		probably null	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Cep68	A	T	11: 20,190,652 (GRCm39)	L120H	possibly damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Cpne1	G	T	2: 155,919,339 (GRCm39)	Q343K	probably benign	Het
Dlc1	A	T	8: 37,405,702 (GRCm39)	I29K	probably benign	Het
Dnah9	T	C	11: 65,786,827 (GRCm39)	D3602G	possibly damaging	Het
Dock1	A	G	7: 134,475,879 (GRCm39)	S885G	probably benign	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fmo6	C	T	1: 162,748,132 (GRCm39)	A311T	probably damaging	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	T	17: 34,461,588 (GRCm39)	T109I	probably damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Krt1c	A	G	15: 101,724,932 (GRCm39)	V226A	probably damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Ltbp4	G	T	7: 27,024,485 (GRCm39)	P715Q	probably damaging	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Naip6	A	G	13: 100,420,274 (GRCm39)	I1332T	possibly damaging	Het
Ncstn	A	G	1: 171,899,072 (GRCm39)	V353A	possibly damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5ac21	A	T	16: 59,124,352 (GRCm39)	I280F	probably damaging	Het
Or5p81	A	G	7: 108,267,364 (GRCm39)	H247R	probably damaging	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Prr14l	A	G	5: 32,985,767 (GRCm39)	S1243P	probably damaging	Het
Prss1	T	C	6: 41,435,878 (GRCm39)	M1T	probably null	Het
Raver2	T	A	4: 100,960,147 (GRCm39)	V209D	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Slc16a13	A	T	11: 70,111,457 (GRCm39)	V16E	probably damaging	Het
Sobp	A	C	10: 42,898,689 (GRCm39)	S299A	probably damaging	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Ubox5	A	T	2: 130,442,630 (GRCm39)	V19E	probably damaging	Het
Vmn1r173	A	G	7: 23,402,160 (GRCm39)	T132A	probably benign	Het
Zfp267	A	G	3: 36,218,711 (GRCm39)	M244V	probably benign	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	Het

Other mutations in Slc30a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Slc30a6	APN	17	74,715,834 (GRCm39)	splice site	probably benign
IGL01592:Slc30a6	APN	17	74,726,523 (GRCm39)	splice site	probably benign
IGL02556:Slc30a6	APN	17	74,711,054 (GRCm39)	missense	probably damaging	1.00
IGL03033:Slc30a6	APN	17	74,716,373 (GRCm39)	nonsense	probably null
IGL03149:Slc30a6	APN	17	74,730,018 (GRCm39)	missense	probably damaging	1.00
R0355:Slc30a6	UTSW	17	74,730,198 (GRCm39)	missense	probably benign
R0791:Slc30a6	UTSW	17	74,722,640 (GRCm39)	missense	possibly damaging	0.89
R1507:Slc30a6	UTSW	17	74,715,857 (GRCm39)	missense	probably damaging	1.00
R1517:Slc30a6	UTSW	17	74,715,842 (GRCm39)	missense	probably benign	0.25
R1585:Slc30a6	UTSW	17	74,725,610 (GRCm39)	splice site	probably benign
R1944:Slc30a6	UTSW	17	74,715,858 (GRCm39)	missense	probably damaging	0.99
R2925:Slc30a6	UTSW	17	74,708,999 (GRCm39)	splice site	probably benign
R3891:Slc30a6	UTSW	17	74,726,541 (GRCm39)	missense	probably benign	0.19
R4840:Slc30a6	UTSW	17	74,712,716 (GRCm39)	missense	probably damaging	1.00
R4863:Slc30a6	UTSW	17	74,719,649 (GRCm39)	missense	possibly damaging	0.84
R5330:Slc30a6	UTSW	17	74,730,190 (GRCm39)	missense	probably benign	0.24
R5331:Slc30a6	UTSW	17	74,730,190 (GRCm39)	missense	probably benign	0.24
R5562:Slc30a6	UTSW	17	74,719,700 (GRCm39)	missense	possibly damaging	0.91
R6458:Slc30a6	UTSW	17	74,730,108 (GRCm39)	missense	probably damaging	1.00
R6681:Slc30a6	UTSW	17	74,711,027 (GRCm39)	missense	possibly damaging	0.53
R7419:Slc30a6	UTSW	17	74,730,424 (GRCm39)	missense	probably benign
R7457:Slc30a6	UTSW	17	74,714,233 (GRCm39)	missense	probably benign	0.05
R7596:Slc30a6	UTSW	17	74,722,664 (GRCm39)	missense	probably benign	0.00
R7844:Slc30a6	UTSW	17	74,711,088 (GRCm39)	splice site	probably null
R8043:Slc30a6	UTSW	17	74,730,018 (GRCm39)	missense	probably damaging	0.99
R8097:Slc30a6	UTSW	17	74,719,693 (GRCm39)	missense	possibly damaging	0.92
R8465:Slc30a6	UTSW	17	74,722,661 (GRCm39)	missense	probably benign	0.04
R8557:Slc30a6	UTSW	17	74,712,685 (GRCm39)	missense	possibly damaging	0.82
R8878:Slc30a6	UTSW	17	74,730,112 (GRCm39)	missense	probably damaging	0.99
R9035:Slc30a6	UTSW	17	74,726,586 (GRCm39)	missense	probably benign	0.23
R9432:Slc30a6	UTSW	17	74,719,699 (GRCm39)	missense	possibly damaging	0.66
R9632:Slc30a6	UTSW	17	74,730,059 (GRCm39)	missense	probably benign	0.01
T0722:Slc30a6	UTSW	17	74,719,319 (GRCm39)	critical splice donor site	probably null
X0003:Slc30a6	UTSW	17	74,719,319 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTCTGCGTTAAGTCTGCCGTC -3'
(R):5'- CGCGCTTTATCTGCTGGAAGACAC -3'

Sequencing Primer
(F):5'- CCCCTacacacacacacac -3'
(R):5'- TCCCACTGTACACACTCATG -3'

Posted On

2013-11-08