Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Slc39a12'

539988

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 #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14388316-14494977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14389375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 19 (S19G)

Ref Sequence

ENSEMBL: ENSMUSP00000110379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731] [ENSMUST00000133258]

AlphaFold

Q5FWH7

Predicted Effect

probably benign
Transcript: ENSMUST00000082290
AA Change: S19G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: S19G

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: S19G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: S19G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133258
AA Change: S19G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122795
Gene: ENSMUSG00000036949
AA Change: S19G

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,548	T172A	possibly damaging	Het
2310003L06Rik	T	A	5: 87,970,702	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,512,596	S6R	unknown	Het
Abca6	T	A	11: 110,244,328	L210F	probably benign	Het
Abcc4	T	C	14: 118,527,988	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,150,884	D811G	possibly damaging	Het
Akna	A	G	4: 63,387,102	S476P	probably benign	Het
Ankrd49	T	C	9: 14,782,826	N15S	probably benign	Het
Apcdd1	A	G	18: 62,933,908	D31G	probably damaging	Het
Aplp1	G	T	7: 30,443,200	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,531,218	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108		probably null	Het
Axl	T	C	7: 25,761,433	D717G	probably damaging	Het
Bub1	T	A	2: 127,801,382	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,282,234	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,539,921	C289S	probably damaging	Het
Coasy	A	G	11: 101,083,581	H191R	probably benign	Het
Cyp11a1	A	T	9: 58,025,120	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,156	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,444,781		probably null	Het
Dnah9	A	T	11: 66,117,626	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,529,011	Q505H	probably benign	Het
Fam135a	T	A	1: 24,085,487	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,438,434	S500P	possibly damaging	Het
Fat3	A	G	9: 15,959,942	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,970,677	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,942,985	I390V	probably benign	Het
Gemin4	A	G	11: 76,210,956	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,833,167	D647V	probably damaging	Het
Gm7534	A	T	4: 134,193,153	M567K	probably benign	Het
Gpr84	A	C	15: 103,309,014	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,331,432		probably benign	Het
Hspg2	G	T	4: 137,540,720	C2116F	probably damaging	Het
Icam4	T	A	9: 21,030,451	V249E	probably damaging	Het
Itga1	T	C	13: 115,001,563	N429D	probably benign	Het
Kcns1	T	C	2: 164,164,838	T402A	probably damaging	Het
Ky	T	A	9: 102,537,627	V246E	probably damaging	Het
March1	A	G	8: 66,468,492	T529A	probably benign	Het
Med18	C	G	4: 132,459,883	V102L	probably damaging	Het
Mlst8	T	C	17: 24,477,275	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,303,698	I470T	probably benign	Het
Muc1	C	T	3: 89,229,159		probably benign	Het
Mup8	G	A	4: 60,220,322	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,542,330	L341*	probably null	Het
Nacad	A	G	11: 6,601,877	F438S	probably benign	Het
Necap2	C	A	4: 141,078,212		probably null	Het
Nifk	T	C	1: 118,332,348	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,289,997	I73V	probably benign	Het
Olfr1179	G	A	2: 88,402,064	T290I	probably benign	Het
Olfr1186	T	A	2: 88,526,194	C204S	possibly damaging	Het
Olfr142	A	T	2: 90,252,777	C70*	probably null	Het
Olfr715	A	G	7: 107,128,901	L164P	probably damaging	Het
Oog3	C	T	4: 144,159,353	C225Y	probably benign	Het
Plagl2	C	A	2: 153,235,943	K39N	probably benign	Het
Plcg2	T	A	8: 117,557,319	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,211,786	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,829,016	T442S	probably benign	Het
Prr14l	G	A	5: 32,830,691	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,703,971	V63I	probably benign	Het
Psmc6	T	A	14: 45,343,725	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,155,075	T405A	probably benign	Het
Rbm33	G	A	5: 28,410,745	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Scarb1	T	A	5: 125,284,719	I107F	probably damaging	Het
Slc44a5	T	C	3: 154,258,506	V503A	probably benign	Het
Slc9a9	T	C	9: 94,670,086	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,490,701	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,352,151	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,882,597	F209L	probably benign	Het
Tmprss12	C	T	15: 100,285,268	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,417,073	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,793,639	M198K	probably benign	Het
Ttll8	A	G	15: 88,914,304	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,728,383	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,430,458	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,650,242	Q589K	probably benign	Het
Zbed5	T	A	5: 129,903,329	Y706*	probably null	Het
Zc3h10	A	G	10: 128,544,684	V268A	probably damaging	Het
Zfp442	C	T	2: 150,410,940		probably null	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
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	probably benign

Predicted Primers

PCR Primer
(F):5'- GATCCCCTGTTGCTGCAAATC -3'
(R):5'- TTCTCTGTGGACACCCAGTC -3'

Sequencing Primer
(F):5'- CAGGCACCCAATTAGTGAGTCATTTC -3'
(R):5'- CCTCTCCAACAGAATTTTGATGAGGC -3'

Posted On

2018-11-06