Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Slc39a12'

173928

Institutional Source

Beutler Lab

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

MMRRC Submission

039683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14393127-14499788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14456803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 597 (V597A)

Ref Sequence

ENSEMBL: ENSMUSP00000080911 (fasta)

Gene Model

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

AlphaFold

Q5FWH7

Predicted Effect

probably benign
Transcript: ENSMUST00000082290
AA Change: V597A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: V597A

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: V561A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: V561A

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: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,768 (GRCm39)	S184P	probably damaging	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Anxa10	T	C	8: 62,545,618 (GRCm39)	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Baz1a	G	A	12: 55,021,983 (GRCm39)	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,288,689 (GRCm39)	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Chrm3	A	T	13: 9,928,461 (GRCm39)	W192R	probably damaging	Het
Cnn1	C	A	9: 22,019,150 (GRCm39)	A202E	probably damaging	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,710,184 (GRCm39)		probably benign	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,896,492 (GRCm39)	G542C	probably damaging	Het
Exosc8	A	T	3: 54,641,522 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,194,508 (GRCm39)		probably null	Het
Has1	A	G	17: 18,070,247 (GRCm39)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,162,274 (GRCm39)	F110S	probably damaging	Het
Iars1	A	G	13: 49,876,478 (GRCm39)	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,477,771 (GRCm39)	H281N	probably damaging	Het
Inpp4b	G	T	8: 82,583,403 (GRCm39)		probably benign	Het
Itga11	A	G	9: 62,667,652 (GRCm39)	N662D	probably benign	Het
Kif20b	A	T	19: 34,914,190 (GRCm39)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,878,570 (GRCm39)	T237A	probably damaging	Het
Klc1	T	C	12: 111,743,321 (GRCm39)	L216P	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,358,622 (GRCm39)		probably null	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Lnx2	C	A	5: 146,964,152 (GRCm39)	V468L	probably benign	Het
Lrriq1	A	T	10: 103,006,509 (GRCm39)	C1205*	probably null	Het
Lsm4	A	G	8: 71,130,456 (GRCm39)	Y25C	probably damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Miip	T	C	4: 147,949,691 (GRCm39)	S174G	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Msh2	C	T	17: 87,980,064 (GRCm39)	A14V	probably benign	Het
Nbea	T	A	3: 55,537,650 (GRCm39)	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,602,895 (GRCm39)	Q167L	probably damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Or10a3n	A	G	7: 108,492,972 (GRCm39)	I214T	probably damaging	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or5an10	T	A	19: 12,276,023 (GRCm39)	I158L	probably benign	Het
Pate9	A	G	9: 36,445,736 (GRCm39)	S72P	possibly damaging	Het
Phldb1	G	A	9: 44,626,730 (GRCm39)	P572S	probably damaging	Het
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Prr12	T	A	7: 44,683,616 (GRCm39)	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Pygl	T	A	12: 70,243,784 (GRCm39)	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,854,920 (GRCm39)	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,835,973 (GRCm39)	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126 (GRCm39)	Y34H	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc2	T	A	10: 79,461,945 (GRCm39)	M367L	probably benign	Het
Slc26a5	T	A	5: 22,018,974 (GRCm39)	K590*	probably null	Het
Slc45a3	G	A	1: 131,905,262 (GRCm39)	G81D	probably damaging	Het
Spata2l	T	C	8: 123,960,041 (GRCm39)	N416S	probably benign	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,191,641 (GRCm39)	V931A	probably benign	Het
Tmem190	A	G	7: 4,787,120 (GRCm39)	D108G	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp704	A	T	3: 9,536,099 (GRCm39)	S140R	probably damaging	Het

Other mutations in Slc39a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Slc39a12	APN	2	14,400,879 (GRCm39)	splice site	probably benign
IGL01597:Slc39a12	APN	2	14,439,120 (GRCm39)	missense	possibly damaging	0.95
IGL02516:Slc39a12	APN	2	14,405,146 (GRCm39)	missense	probably damaging	1.00
greenshoot	UTSW	2	14,425,029 (GRCm39)	missense	probably damaging	1.00
sapling	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
Seedling	UTSW	2	14,439,174 (GRCm39)	splice site	probably benign
stripling	UTSW	2	14,405,142 (GRCm39)	missense	probably benign	0.00
R0068:Slc39a12	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
R0068:Slc39a12	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
R0453:Slc39a12	UTSW	2	14,440,492 (GRCm39)	missense	probably benign	0.04
R0533:Slc39a12	UTSW	2	14,405,142 (GRCm39)	missense	probably benign	0.00
R0718:Slc39a12	UTSW	2	14,412,237 (GRCm39)	splice site	probably benign
R1648:Slc39a12	UTSW	2	14,456,803 (GRCm39)	missense	probably benign	0.24
R1879:Slc39a12	UTSW	2	14,448,868 (GRCm39)	missense	probably benign
R1993:Slc39a12	UTSW	2	14,439,030 (GRCm39)	missense	probably damaging	0.98
R2429:Slc39a12	UTSW	2	14,409,897 (GRCm39)	missense	probably benign	0.06
R3746:Slc39a12	UTSW	2	14,400,878 (GRCm39)	splice site	probably benign
R3934:Slc39a12	UTSW	2	14,439,174 (GRCm39)	splice site	probably benign
R3941:Slc39a12	UTSW	2	14,400,992 (GRCm39)	missense	possibly damaging	0.95
R4008:Slc39a12	UTSW	2	14,456,928 (GRCm39)	missense	probably damaging	1.00
R4478:Slc39a12	UTSW	2	14,424,990 (GRCm39)	nonsense	probably null
R4622:Slc39a12	UTSW	2	14,405,136 (GRCm39)	missense	probably benign	0.11
R4760:Slc39a12	UTSW	2	14,405,134 (GRCm39)	missense	probably benign	0.14
R5477:Slc39a12	UTSW	2	14,394,193 (GRCm39)	missense	possibly damaging	0.46
R5566:Slc39a12	UTSW	2	14,412,414 (GRCm39)	missense	possibly damaging	0.80
R5725:Slc39a12	UTSW	2	14,394,075 (GRCm39)	start gained	probably benign
R5798:Slc39a12	UTSW	2	14,454,637 (GRCm39)	missense	probably damaging	1.00
R6074:Slc39a12	UTSW	2	14,412,290 (GRCm39)	nonsense	probably null
R6169:Slc39a12	UTSW	2	14,405,044 (GRCm39)	missense	possibly damaging	0.64
R6180:Slc39a12	UTSW	2	14,400,938 (GRCm39)	missense	probably benign	0.38
R6802:Slc39a12	UTSW	2	14,424,896 (GRCm39)	missense	probably benign	0.28
R6847:Slc39a12	UTSW	2	14,454,728 (GRCm39)	missense	probably damaging	1.00
R6899:Slc39a12	UTSW	2	14,394,352 (GRCm39)	missense	probably damaging	1.00
R6931:Slc39a12	UTSW	2	14,394,186 (GRCm39)	missense	probably benign	0.04
R7131:Slc39a12	UTSW	2	14,454,614 (GRCm39)	missense	probably damaging	1.00
R7343:Slc39a12	UTSW	2	14,456,811 (GRCm39)	missense	probably damaging	1.00
R7525:Slc39a12	UTSW	2	14,499,272 (GRCm39)	missense	probably benign	0.01
R7568:Slc39a12	UTSW	2	14,404,939 (GRCm39)	splice site	probably null
R7684:Slc39a12	UTSW	2	14,454,670 (GRCm39)	missense	probably damaging	0.99
R7761:Slc39a12	UTSW	2	14,439,141 (GRCm39)	missense	probably benign	0.01
R7785:Slc39a12	UTSW	2	14,425,029 (GRCm39)	missense	probably damaging	1.00
R8725:Slc39a12	UTSW	2	14,454,670 (GRCm39)	missense	probably damaging	0.99
R9199:Slc39a12	UTSW	2	14,394,321 (GRCm39)	missense	possibly damaging	0.69
R9280:Slc39a12	UTSW	2	14,401,003 (GRCm39)	missense	probably benign	0.04
R9571:Slc39a12	UTSW	2	14,412,380 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACATGTCATAGACCTCCCTGGATG -3'
(R):5'- CTTTCTTGGATTCCACAGAGTGTTTGC -3'

Sequencing Primer
(F):5'- ATAGACCTCCCTGGATGAGTTATG -3'
(R):5'- TGGTGTCAGCATATCAAAACAG -3'

Posted On

2014-04-24