Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Slc39a6'

696506

Institutional Source

Beutler Lab

Gene Symbol

Slc39a6

Ensembl Gene

ENSMUSG00000024270

Gene Name

solute carrier family 39 (metal ion transporter), member 6

Synonyms

Ermelin

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24579881-24603817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24582342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 707 (F707S)

Ref Sequence

ENSEMBL: ENSMUSP00000064667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070726] [ENSMUST00000154205]

AlphaFold

Q8C145

Predicted Effect

probably damaging
Transcript: ENSMUST00000070726
AA Change: F707S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: F707S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	94	141	N/A	INTRINSIC
low complexity region	187	198	N/A	INTRINSIC
Pfam:Zip	332	753	3e-104	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154205
AA Change: F423S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: F423S

Domain	Start	End	E-Value	Type
Pfam:Zip	48	433	2e-94	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele do not display any gross skin abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	Het

Other mutations in Slc39a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Slc39a6	APN	18	24589745	critical splice donor site	probably null
IGL01412:Slc39a6	APN	18	24585356	missense	probably damaging	1.00
IGL02182:Slc39a6	APN	18	24601290	missense	probably damaging	0.99
IGL02332:Slc39a6	APN	18	24589823	missense	probably benign	0.22
IGL02648:Slc39a6	APN	18	24582367	missense	probably damaging	1.00
Lobar	UTSW	18	24596329	nonsense	probably null
R0066:Slc39a6	UTSW	18	24599269	missense	probably damaging	1.00
R0066:Slc39a6	UTSW	18	24599269	missense	probably damaging	1.00
R0729:Slc39a6	UTSW	18	24601470	missense	probably benign	0.00
R1128:Slc39a6	UTSW	18	24585292	missense	probably damaging	1.00
R1621:Slc39a6	UTSW	18	24600889	missense	probably benign	0.08
R1799:Slc39a6	UTSW	18	24585467	missense	probably benign	0.00
R1800:Slc39a6	UTSW	18	24585202	missense	probably damaging	1.00
R1885:Slc39a6	UTSW	18	24601482	splice site	probably null
R4159:Slc39a6	UTSW	18	24597828	missense	possibly damaging	0.88
R4809:Slc39a6	UTSW	18	24585474	nonsense	probably null
R4903:Slc39a6	UTSW	18	24597868	missense	probably damaging	1.00
R4994:Slc39a6	UTSW	18	24596294	missense	probably damaging	1.00
R5352:Slc39a6	UTSW	18	24601036	missense	probably benign	0.00
R5398:Slc39a6	UTSW	18	24597879	missense	probably damaging	1.00
R5832:Slc39a6	UTSW	18	24601612	missense	possibly damaging	0.81
R6182:Slc39a6	UTSW	18	24600956	missense	probably benign	0.16
R6853:Slc39a6	UTSW	18	24599319	missense	possibly damaging	0.71
R7226:Slc39a6	UTSW	18	24584027	missense	probably damaging	1.00
R7252:Slc39a6	UTSW	18	24601385	missense	possibly damaging	0.64
R7263:Slc39a6	UTSW	18	24601203	missense	probably benign
R7328:Slc39a6	UTSW	18	24600930	missense	probably benign	0.00
R7388:Slc39a6	UTSW	18	24584049	missense	probably damaging	1.00
R7395:Slc39a6	UTSW	18	24585275	missense	probably damaging	1.00
R8393:Slc39a6	UTSW	18	24599274	missense	possibly damaging	0.89
R8695:Slc39a6	UTSW	18	24603754	unclassified	probably benign
R8889:Slc39a6	UTSW	18	24596329	nonsense	probably null
R8892:Slc39a6	UTSW	18	24596329	nonsense	probably null
R9178:Slc39a6	UTSW	18	24600913	missense	probably damaging	0.99
R9215:Slc39a6	UTSW	18	24599266	missense	probably benign	0.04
R9349:Slc39a6	UTSW	18	24585436	missense	probably benign
X0065:Slc39a6	UTSW	18	24585375	missense	possibly damaging	0.95
Z1176:Slc39a6	UTSW	18	24585315	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATCCTGTCTCACCACTGG -3'
(R):5'- AAAATTATCTTCAATGACCCTGCCC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TTTGTTTGTTTTCTGATAAAGGTGAC -3'

Posted On

2022-02-07