Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Slc39a12'

436781

Institutional Source

Beutler Lab

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

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

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14393127-14499788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14412414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 362 (T362I)

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: T362I

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: T362I

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: T362I

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: T362I

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: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,615 (GRCm39)	Y2159*	probably null	Het
Abca3	A	G	17: 24,602,901 (GRCm39)	T499A	probably benign	Het
Abcb5	T	A	12: 118,899,702 (GRCm39)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,078,419 (GRCm39)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,592,765 (GRCm39)		probably null	Het
Adh4	A	T	3: 138,129,950 (GRCm39)	I259F	probably damaging	Het
Aff3	G	A	1: 38,220,505 (GRCm39)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,370,105 (GRCm39)	D280G	probably benign	Het
Baiap3	T	C	17: 25,470,707 (GRCm39)	E71G	probably damaging	Het
Calb2	A	G	8: 110,879,332 (GRCm39)	I91T	possibly damaging	Het
Ccr5	A	G	9: 123,924,697 (GRCm39)	N100S	probably benign	Het
Cep57	G	T	9: 13,732,871 (GRCm39)	R25S	probably damaging	Het
Chadl	A	G	15: 81,580,079 (GRCm39)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,362,438 (GRCm39)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,775,593 (GRCm39)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,628,316 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,356,682 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,411,300 (GRCm39)		probably null	Het
Cyp39a1	T	A	17: 43,996,099 (GRCm39)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,380,848 (GRCm39)	Y54N	probably benign	Het
Dmbt1	A	T	7: 130,708,003 (GRCm39)	D1241V	probably damaging	Het
Dnah1	A	T	14: 30,996,323 (GRCm39)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,407,395 (GRCm39)	E158*	probably null	Het
Dynlt2b	A	G	16: 32,238,718 (GRCm39)	Y31C	probably damaging	Het
Edar	A	G	10: 58,464,463 (GRCm39)	S59P	possibly damaging	Het
Egr2	T	A	10: 67,376,596 (GRCm39)	C339*	probably null	Het
Eif5b	G	A	1: 38,084,765 (GRCm39)	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,090,328 (GRCm39)	G1169E	probably damaging	Het
Erap1	A	G	13: 74,810,531 (GRCm39)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,544,849 (GRCm39)	V338M	probably damaging	Het
Gabra6	T	C	11: 42,198,317 (GRCm39)	T378A	probably benign	Het
Gm4924	C	A	10: 82,214,475 (GRCm39)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,545,000 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,543,919 (GRCm39)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,837,901 (GRCm39)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,534,368 (GRCm39)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Herc1	T	A	9: 66,372,819 (GRCm39)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,191,580 (GRCm39)	Y167*	probably null	Het
Hrob	T	A	11: 102,146,659 (GRCm39)	S312T	probably damaging	Het
Htt	T	C	5: 35,006,419 (GRCm39)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,224,470 (GRCm39)	D28G	probably damaging	Het
Impact	T	G	18: 13,107,819 (GRCm39)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,334,926 (GRCm39)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,676,554 (GRCm39)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,559,338 (GRCm39)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,123,788 (GRCm39)	L131R	probably damaging	Het
Kif2a	A	T	13: 107,130,432 (GRCm39)	M1K	probably null	Het
Lrsam1	C	A	2: 32,831,870 (GRCm39)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,328,957 (GRCm39)	Q4592R	probably damaging	Het
Map3k5	T	C	10: 19,986,465 (GRCm39)	V893A	probably damaging	Het
Med13l	G	T	5: 118,866,730 (GRCm39)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,761,211 (GRCm39)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,495,356 (GRCm39)	L471P	probably damaging	Het
Myo7a	T	C	7: 97,714,023 (GRCm39)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,552,136 (GRCm39)	S352C	probably damaging	Het
Nfat5	T	A	8: 108,095,767 (GRCm39)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,248,129 (GRCm39)	L668F	probably damaging	Het
Or12j2	C	A	7: 139,915,980 (GRCm39)	D68E	probably damaging	Het
Or7e178	T	C	9: 20,225,265 (GRCm39)	Q309R	probably benign	Het
Or8j3c	G	A	2: 86,253,721 (GRCm39)	Q100*	probably null	Het
Plxnb2	T	C	15: 89,048,223 (GRCm39)	T696A	probably benign	Het
Prkab2	T	A	3: 97,569,609 (GRCm39)	F58L	probably benign	Het
Prpf4	G	T	4: 62,334,206 (GRCm39)	L220F	probably benign	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Raet1e	T	C	10: 22,050,304 (GRCm39)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,336,630 (GRCm39)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,430,173 (GRCm39)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,669,520 (GRCm39)	I289F	probably damaging	Het
Rint1	T	C	5: 24,015,951 (GRCm39)	Y406H	probably damaging	Het
Rmc1	T	C	18: 12,313,749 (GRCm39)	I26T	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scn8a	T	C	15: 100,872,415 (GRCm39)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,615,538 (GRCm39)	V249E	possibly damaging	Het
Sos1	C	T	17: 80,761,319 (GRCm39)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,124,475 (GRCm39)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,634,113 (GRCm39)	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,138,015 (GRCm39)	T232S	probably damaging	Het
Tenm3	A	G	8: 48,732,041 (GRCm39)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,191,356 (GRCm39)	L100*	probably null	Het
Tgm1	C	A	14: 55,949,893 (GRCm39)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,593,018 (GRCm39)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,399,552 (GRCm39)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,015,251 (GRCm39)	F320I	possibly damaging	Het
Tut7	A	T	13: 59,936,443 (GRCm39)	C817*	probably null	Het
Vmn1r21	A	C	6: 57,821,079 (GRCm39)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,614,407 (GRCm39)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,852,290 (GRCm39)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,247 (GRCm39)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 85,875,286 (GRCm39)	Y564N	probably damaging	Het
Wee1	G	T	7: 109,725,257 (GRCm39)	E300*	probably null	Het
Xdh	T	C	17: 74,200,617 (GRCm39)	D1168G	probably damaging	Het
Zfp54	A	G	17: 21,653,706 (GRCm39)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,392,679 (GRCm39)	H227N	probably benign	Het
Zpr1	T	A	9: 46,192,373 (GRCm39)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,161,461 (GRCm39)	E285G	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
R1647:Slc39a12	UTSW	2	14,456,803 (GRCm39)	missense	probably benign	0.24
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
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'- CAGGCTTGCTTCTCTGCTAG -3'
(R):5'- GAAAGGTAACAGCAAAACTTCACTG -3'

Sequencing Primer
(F):5'- AGGCAGTTGGTGGAGATATTTCTAC -3'
(R):5'- AGCATCAGAGACTCTTGACTTGGC -3'

Posted On

2016-10-24