Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Slc39a12'

490284

Institutional Source

Beutler Lab

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14388316-14494977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14400233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 212 (I212T)

Ref Sequence

ENSEMBL: ENSMUSP00000110379 (fasta)

Gene Model

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

AlphaFold

Q5FWH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082290
AA Change: I212T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: I212T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114731
AA Change: I212T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: I212T

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814	T306I	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731	V94I	probably null	Het
Cog6	A	T	3: 53,007,301	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206	Q425*	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Unc45a	A	C	7: 80,328,763	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	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
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	not run

Predicted Primers

PCR Primer
(F):5'- AGTGTTTCCCAAATCCAGTTTC -3'
(R):5'- TTTCTGGCACAATCAATCAGACAG -3'

Sequencing Primer
(F):5'- TAGTAGAGTGATGGCATCATGC -3'
(R):5'- TCAATCAGACAGATGTGACTTGG -3'

Posted On

2017-10-10