Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Slc39a12'

356774

Institutional Source

Beutler Lab

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14388316-14494977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14400323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 242 (S242N)

Ref Sequence

ENSEMBL: ENSMUSP00000110379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]

AlphaFold

Q5FWH7

Predicted Effect

probably benign
Transcript: ENSMUST00000082290
AA Change: S242N

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: S242N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Zip	364	681	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114731
AA Change: S242N

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: S242N

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:Zip	382	511	2.5e-17	PFAM
Pfam:Zip	492	661	1.5e-41	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	possibly damaging	Het

Other mutations in Slc39a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Slc39a12	APN	2	14396068	splice site	probably benign
IGL01597:Slc39a12	APN	2	14434309	missense	possibly damaging	0.95
IGL02516:Slc39a12	APN	2	14400335	missense	probably damaging	1.00
greenshoot	UTSW	2	14420218	missense	probably damaging	1.00
sapling	UTSW	2	14435678	missense	probably benign
Seedling	UTSW	2	14434363	splice site	probably benign
stripling	UTSW	2	14400331	missense	probably benign	0.00
R0068:Slc39a12	UTSW	2	14435678	missense	probably benign
R0068:Slc39a12	UTSW	2	14435678	missense	probably benign
R0453:Slc39a12	UTSW	2	14435681	missense	probably benign	0.04
R0533:Slc39a12	UTSW	2	14400331	missense	probably benign	0.00
R0718:Slc39a12	UTSW	2	14407426	splice site	probably benign
R1647:Slc39a12	UTSW	2	14451992	missense	probably benign	0.24
R1648:Slc39a12	UTSW	2	14451992	missense	probably benign	0.24
R1879:Slc39a12	UTSW	2	14444057	missense	probably benign
R1993:Slc39a12	UTSW	2	14434219	missense	probably damaging	0.98
R2429:Slc39a12	UTSW	2	14405086	missense	probably benign	0.06
R3746:Slc39a12	UTSW	2	14396067	splice site	probably benign
R3934:Slc39a12	UTSW	2	14434363	splice site	probably benign
R3941:Slc39a12	UTSW	2	14396181	missense	possibly damaging	0.95
R4008:Slc39a12	UTSW	2	14452117	missense	probably damaging	1.00
R4478:Slc39a12	UTSW	2	14420179	nonsense	probably null
R4622:Slc39a12	UTSW	2	14400325	missense	probably benign	0.11
R5477:Slc39a12	UTSW	2	14389382	missense	possibly damaging	0.46
R5566:Slc39a12	UTSW	2	14407603	missense	possibly damaging	0.80
R5725:Slc39a12	UTSW	2	14389264	start gained	probably benign
R5798:Slc39a12	UTSW	2	14449826	missense	probably damaging	1.00
R6074:Slc39a12	UTSW	2	14407479	nonsense	probably null
R6169:Slc39a12	UTSW	2	14400233	missense	possibly damaging	0.64
R6180:Slc39a12	UTSW	2	14396127	missense	probably benign	0.38
R6802:Slc39a12	UTSW	2	14420085	missense	probably benign	0.28
R6847:Slc39a12	UTSW	2	14449917	missense	probably damaging	1.00
R6899:Slc39a12	UTSW	2	14389541	missense	probably damaging	1.00
R6931:Slc39a12	UTSW	2	14389375	missense	probably benign	0.04
R7131:Slc39a12	UTSW	2	14449803	missense	probably damaging	1.00
R7343:Slc39a12	UTSW	2	14452000	missense	probably damaging	1.00
R7525:Slc39a12	UTSW	2	14494461	missense	probably benign	0.01
R7568:Slc39a12	UTSW	2	14400128	splice site	probably null
R7684:Slc39a12	UTSW	2	14449859	missense	probably damaging	0.99
R7761:Slc39a12	UTSW	2	14434330	missense	probably benign	0.01
R7785:Slc39a12	UTSW	2	14420218	missense	probably damaging	1.00
R8725:Slc39a12	UTSW	2	14449859	missense	probably damaging	0.99
R9199:Slc39a12	UTSW	2	14389510	missense	possibly damaging	0.69
R9280:Slc39a12	UTSW	2	14396192	missense	probably benign	0.04
R9571:Slc39a12	UTSW	2	14407569	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTTAACATGTCCTCCTTGTTG -3'
(R):5'- GCCCTAAAAGGACATCTGTGC -3'

Sequencing Primer
(F):5'- GTGTATGGAAACTAAGATTCTGCAG -3'
(R):5'- GCTCTCTTATTGCATGCCAAGATAAG -3'

Posted On

2015-11-11