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

Essential gene?

Probably non essential (E-score: 0.063) 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 (GRCm38)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261 (GRCm38)		probably null	Het
Adamts16	A	T	13: 70,770,274 (GRCm38)	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259 (GRCm38)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358 (GRCm38)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459 (GRCm38)	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839 (GRCm38)	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677 (GRCm38)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463 (GRCm38)	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814 (GRCm38)	T306I	probably benign	Het
Cabs1	C	T	5: 87,979,754 (GRCm38)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072 (GRCm38)	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978 (GRCm38)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561 (GRCm38)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731 (GRCm38)	V94I	probably null	Het
Cog6	A	T	3: 53,007,301 (GRCm38)	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550 (GRCm38)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,759,399 (GRCm38)	P416S	probably benign	Het
Ep400	T	C	5: 110,741,997 (GRCm38)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,335,489 (GRCm38)		probably null	Het
Fyb2	T	C	4: 105,000,516 (GRCm38)	V630A	probably benign	Het
Gm43218	T	A	6: 70,240,622 (GRCm38)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575 (GRCm38)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104 (GRCm38)	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755 (GRCm38)	S1100*	probably null	Het
Htt	T	C	5: 34,907,473 (GRCm38)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298 (GRCm38)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957 (GRCm38)	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291 (GRCm38)	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276 (GRCm38)	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378 (GRCm38)	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116 (GRCm38)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,645,062 (GRCm38)	I455R	probably damaging	Het
Krt86	A	G	15: 101,476,289 (GRCm38)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569 (GRCm38)	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421 (GRCm38)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757 (GRCm38)	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822 (GRCm38)	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499 (GRCm38)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,665,334 (GRCm38)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,535,272 (GRCm38)	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752 (GRCm38)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849 (GRCm38)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007 (GRCm38)	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206 (GRCm38)	Q425*	probably null	Het
Pramel22	T	C	4: 143,654,115 (GRCm38)	Y446C	probably benign	Het
Prss35	T	C	9: 86,755,438 (GRCm38)	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839 (GRCm38)	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713 (GRCm38)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465 (GRCm38)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974 (GRCm38)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087 (GRCm38)	S280P	probably damaging	Het
Slc7a12	T	C	3: 14,497,328 (GRCm38)	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086 (GRCm38)	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911 (GRCm38)	P108Q	probably benign	Het
Stim2	T	G	5: 54,118,679 (GRCm38)	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104 (GRCm38)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070 (GRCm38)	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690 (GRCm38)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,518,396 (GRCm38)	N261K	probably benign	Het
Tlr2	C	A	3: 83,838,148 (GRCm38)	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579 (GRCm38)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953 (GRCm38)		probably benign	Het
Unc45a	A	C	7: 80,328,763 (GRCm38)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751 (GRCm38)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548 (GRCm38)	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843 (GRCm38)	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667 (GRCm38)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631 (GRCm38)	V198A	probably benign	Het

Other mutations in Slc39a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Slc39a12	APN	2	14,396,068 (GRCm38)	splice site	probably benign
IGL01597:Slc39a12	APN	2	14,434,309 (GRCm38)	missense	possibly damaging	0.95
IGL02516:Slc39a12	APN	2	14,400,335 (GRCm38)	missense	probably damaging	1.00
greenshoot	UTSW	2	14,420,218 (GRCm38)	missense	probably damaging	1.00
sapling	UTSW	2	14,435,678 (GRCm38)	missense	probably benign
Seedling	UTSW	2	14,434,363 (GRCm38)	splice site	probably benign
stripling	UTSW	2	14,400,331 (GRCm38)	missense	probably benign	0.00
R0068:Slc39a12	UTSW	2	14,435,678 (GRCm38)	missense	probably benign
R0068:Slc39a12	UTSW	2	14,435,678 (GRCm38)	missense	probably benign
R0453:Slc39a12	UTSW	2	14,435,681 (GRCm38)	missense	probably benign	0.04
R0533:Slc39a12	UTSW	2	14,400,331 (GRCm38)	missense	probably benign	0.00
R0718:Slc39a12	UTSW	2	14,407,426 (GRCm38)	splice site	probably benign
R1647:Slc39a12	UTSW	2	14,451,992 (GRCm38)	missense	probably benign	0.24
R1648:Slc39a12	UTSW	2	14,451,992 (GRCm38)	missense	probably benign	0.24
R1879:Slc39a12	UTSW	2	14,444,057 (GRCm38)	missense	probably benign
R1993:Slc39a12	UTSW	2	14,434,219 (GRCm38)	missense	probably damaging	0.98
R2429:Slc39a12	UTSW	2	14,405,086 (GRCm38)	missense	probably benign	0.06
R3746:Slc39a12	UTSW	2	14,396,067 (GRCm38)	splice site	probably benign
R3934:Slc39a12	UTSW	2	14,434,363 (GRCm38)	splice site	probably benign
R3941:Slc39a12	UTSW	2	14,396,181 (GRCm38)	missense	possibly damaging	0.95
R4008:Slc39a12	UTSW	2	14,452,117 (GRCm38)	missense	probably damaging	1.00
R4478:Slc39a12	UTSW	2	14,420,179 (GRCm38)	nonsense	probably null
R4622:Slc39a12	UTSW	2	14,400,325 (GRCm38)	missense	probably benign	0.11
R4760:Slc39a12	UTSW	2	14,400,323 (GRCm38)	missense	probably benign	0.14
R5477:Slc39a12	UTSW	2	14,389,382 (GRCm38)	missense	possibly damaging	0.46
R5566:Slc39a12	UTSW	2	14,407,603 (GRCm38)	missense	possibly damaging	0.80
R5725:Slc39a12	UTSW	2	14,389,264 (GRCm38)	start gained	probably benign
R5798:Slc39a12	UTSW	2	14,449,826 (GRCm38)	missense	probably damaging	1.00
R6074:Slc39a12	UTSW	2	14,407,479 (GRCm38)	nonsense	probably null
R6180:Slc39a12	UTSW	2	14,396,127 (GRCm38)	missense	probably benign	0.38
R6802:Slc39a12	UTSW	2	14,420,085 (GRCm38)	missense	probably benign	0.28
R6847:Slc39a12	UTSW	2	14,449,917 (GRCm38)	missense	probably damaging	1.00
R6899:Slc39a12	UTSW	2	14,389,541 (GRCm38)	missense	probably damaging	1.00
R6931:Slc39a12	UTSW	2	14,389,375 (GRCm38)	missense	probably benign	0.04
R7131:Slc39a12	UTSW	2	14,449,803 (GRCm38)	missense	probably damaging	1.00
R7343:Slc39a12	UTSW	2	14,452,000 (GRCm38)	missense	probably damaging	1.00
R7525:Slc39a12	UTSW	2	14,494,461 (GRCm38)	missense	probably benign	0.01
R7568:Slc39a12	UTSW	2	14,400,128 (GRCm38)	splice site	probably null
R7684:Slc39a12	UTSW	2	14,449,859 (GRCm38)	missense	probably damaging	0.99
R7761:Slc39a12	UTSW	2	14,434,330 (GRCm38)	missense	probably benign	0.01
R7785:Slc39a12	UTSW	2	14,420,218 (GRCm38)	missense	probably damaging	1.00
R8725:Slc39a12	UTSW	2	14,449,859 (GRCm38)	missense	probably damaging	0.99
R9199:Slc39a12	UTSW	2	14,389,510 (GRCm38)	missense	possibly damaging	0.69
R9280:Slc39a12	UTSW	2	14,396,192 (GRCm38)	missense	probably benign	0.04
R9571:Slc39a12	UTSW	2	14,407,569 (GRCm38)	missense	probably benign

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