Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Slc39a12'

586020

Institutional Source

Beutler Lab

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14388316-14494977 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 14400128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110379 (fasta)

Gene Model

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

AlphaFold

Q5FWH7

Predicted Effect

probably null
Transcript: ENSMUST00000082290

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949

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

Predicted Effect

probably null
Transcript: ENSMUST00000114731

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	C	16: 38,828,447	E100G	possibly damaging	Het
Actbl2	T	A	13: 111,255,422	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498	T342S	probably damaging	Het
Alcam	A	G	16: 52,268,386	S554P	probably damaging	Het
Ano3	T	C	2: 110,950,293		probably benign	Het
Atad2b	T	A	12: 5,010,390		probably null	Het
Baz2a	T	C	10: 128,125,270	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,888,151		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,888,172		probably benign	Het
Best1	T	A	19: 9,989,275		probably null	Het
Catip	G	T	1: 74,368,930	E474*	probably null	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crebbp	G	A	16: 4,126,489	R600W	probably benign	Het
Cyfip1	A	G	7: 55,872,249		probably null	Het
Ddr1	A	G	17: 35,684,282	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,922,087		probably null	Het
F2rl1	G	A	13: 95,514,014	A120V	probably damaging	Het
Fam136a	A	G	6: 86,365,802	N24D	probably benign	Het
Fbxw10	C	A	11: 62,875,168	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,439,589	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,916,292	K373E	probably benign	Het
Herc3	G	A	6: 58,843,810	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,736,493	K51*	probably null	Het
Krt23	T	A	11: 99,492,800	K89*	probably null	Het
Mavs	A	G	2: 131,245,475	T298A	probably benign	Het
Mlec	T	C	5: 115,150,122	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,589,801	N689K	probably benign	Het
Nfkbia	A	G	12: 55,491,761	I82T	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,605	I163V	probably benign	Het
Olfr1351	A	T	10: 79,017,507	I62F	probably benign	Het
Olfr527	A	G	7: 140,335,982	N40S	probably damaging	Het
Olfr902	A	G	9: 38,449,646	Y258C	probably damaging	Het
Pom121l2	A	T	13: 21,982,626	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,337,615	L719Q	probably damaging	Het
Satb1	A	T	17: 51,782,724	V365D	possibly damaging	Het
Scrn2	T	C	11: 97,030,886	Y61H	probably damaging	Het
Siglec1	C	T	2: 131,072,682	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,514,882	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,835,130	H337Q	probably benign	Het
Slc6a6	T	G	6: 91,724,851	L80R	probably damaging	Het
Slit1	T	C	19: 41,601,635	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,223,299	E419G	probably damaging	Het
Ssh1	T	C	5: 113,957,380		probably null	Het
Stab1	C	A	14: 31,152,595	C952F	probably damaging	Het
Stat5a	T	C	11: 100,875,024	M312T	possibly damaging	Het
Tex2	A	G	11: 106,548,736	I606T	unknown	Het
Vmn1r19	A	G	6: 57,404,828	H122R	possibly damaging	Het
Zfp959	A	G	17: 55,897,886	I308V	probably benign	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
R4760:Slc39a12	UTSW	2	14400323	missense	probably benign	0.14
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
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'- GATGCAAGCTATGAGTGGGC -3'
(R):5'- CTGTAAAATCATCTGGAGAAGGC -3'

Sequencing Primer
(F):5'- AGTGGGCATGCACTTCAG -3'
(R):5'- GAGAAGGCAAGGCTTTTCTTCCC -3'

Posted On

2019-10-18