Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Slc39a4'

442538

Institutional Source

Beutler Lab

Gene Symbol

Slc39a4

Ensembl Gene

ENSMUSG00000063354

Gene Name

solute carrier family 39 (zinc transporter), member 4

Synonyms

AWMS2, 1600025H15Rik, zip4

MMRRC Submission

043312-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76496583-76501579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76498363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 358 (L358R)

Ref Sequence

ENSEMBL: ENSMUSP00000073134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073428] [ENSMUST00000230977]

AlphaFold

Q78IQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000073428
AA Change: L358R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: L358R

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	238	253	N/A	INTRINSIC
Pfam:Zip	335	652	3.5e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230317

Predicted Effect

probably damaging
Transcript: ENSMUST00000230977
AA Change: L358R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,100,540 (GRCm39)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,588,284 (GRCm39)	I25T	probably damaging	Het
Astl	G	T	2: 127,189,199 (GRCm39)	R175L	probably damaging	Het
BC035947	A	T	1: 78,474,550 (GRCm39)	C661S	probably damaging	Het
Cd160	C	T	3: 96,716,214 (GRCm39)		probably benign	Het
Cdc42bpb	C	T	12: 111,268,447 (GRCm39)		probably null	Het
Cdip1	T	A	16: 4,586,679 (GRCm39)	I149F	probably damaging	Het
Cfap65	T	C	1: 74,964,127 (GRCm39)	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,803,197 (GRCm39)	I1256T	unknown	Het
Copb1	A	G	7: 113,836,820 (GRCm39)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,132,645 (GRCm39)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,425,964 (GRCm39)	V279A	probably benign	Het
Fbll1	T	C	11: 35,688,411 (GRCm39)	N284S	probably benign	Het
Fbxw21	A	T	9: 108,974,578 (GRCm39)	I314N	probably benign	Het
Foxa3	T	C	7: 18,748,176 (GRCm39)	T317A	probably benign	Het
Gpr37	A	T	6: 25,669,351 (GRCm39)	C498S	probably benign	Het
Hapln3	G	T	7: 78,767,244 (GRCm39)		probably null	Het
Igkv4-54	A	G	6: 69,608,832 (GRCm39)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,154,363 (GRCm39)	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,779,693 (GRCm39)	T248A	probably damaging	Het
Kcnv1	T	C	15: 44,977,648 (GRCm39)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,001,050 (GRCm39)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,370,018 (GRCm39)	E1581V	probably damaging	Het
Mga	A	G	2: 119,733,907 (GRCm39)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Or10ag53	T	C	2: 87,082,785 (GRCm39)	V168A	probably benign	Het
Or7e165	T	C	9: 19,695,053 (GRCm39)	F208S	probably benign	Het
Pak5	G	A	2: 135,958,204 (GRCm39)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,278,221 (GRCm39)	S595T	probably benign	Het
Pepd	T	C	7: 34,740,099 (GRCm39)	V324A	probably benign	Het
Pml	C	T	9: 58,154,346 (GRCm39)	D176N	probably benign	Het
Popdc3	T	A	10: 45,192,529 (GRCm39)	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,106,947 (GRCm39)	T481P	probably benign	Het
Pramel13	T	C	4: 144,122,413 (GRCm39)	I44V	probably benign	Het
Prlh	A	G	1: 90,880,842 (GRCm39)	T5A	probably benign	Het
Prom1	A	G	5: 44,170,285 (GRCm39)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,395,564 (GRCm39)	L1897H	probably damaging	Het
Ret	T	C	6: 118,161,204 (GRCm39)	T91A	probably benign	Het
Retsat	A	G	6: 72,582,993 (GRCm39)	S176G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,349,611 (GRCm39)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,834,161 (GRCm39)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,194,641 (GRCm39)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,377,451 (GRCm39)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,424,646 (GRCm39)	A556T	probably benign	Het
Serpinb1a	A	G	13: 33,029,299 (GRCm39)	L243P	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,640,755 (GRCm39)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,339,156 (GRCm39)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,858,433 (GRCm39)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,678,736 (GRCm39)	L139*	probably null	Het
Zfp1004	A	G	2: 150,034,098 (GRCm39)	I140V	probably benign	Het

Other mutations in Slc39a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Slc39a4	APN	15	76,498,403 (GRCm39)	missense	probably damaging	1.00
IGL02597:Slc39a4	APN	15	76,497,824 (GRCm39)	missense	probably benign
IGL02798:Slc39a4	APN	15	76,499,382 (GRCm39)	missense	probably benign	0.04
texline	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R0519:Slc39a4	UTSW	15	76,499,338 (GRCm39)	missense	probably benign	0.38
R0815:Slc39a4	UTSW	15	76,496,839 (GRCm39)	missense	probably damaging	1.00
R1502:Slc39a4	UTSW	15	76,500,793 (GRCm39)	missense	probably benign	0.00
R1547:Slc39a4	UTSW	15	76,498,347 (GRCm39)	nonsense	probably null
R2919:Slc39a4	UTSW	15	76,500,870 (GRCm39)	missense	probably damaging	1.00
R4634:Slc39a4	UTSW	15	76,498,693 (GRCm39)	missense	probably benign
R5029:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R5030:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R6020:Slc39a4	UTSW	15	76,500,342 (GRCm39)	missense	probably benign	0.03
R6741:Slc39a4	UTSW	15	76,498,283 (GRCm39)	missense	probably damaging	1.00
R6920:Slc39a4	UTSW	15	76,497,470 (GRCm39)	missense	probably damaging	0.99
R7072:Slc39a4	UTSW	15	76,497,458 (GRCm39)	missense	probably damaging	1.00
R7920:Slc39a4	UTSW	15	76,498,285 (GRCm39)	missense	probably damaging	1.00
R9217:Slc39a4	UTSW	15	76,498,126 (GRCm39)	missense	possibly damaging	0.60
R9300:Slc39a4	UTSW	15	76,498,759 (GRCm39)	missense	probably damaging	1.00
R9619:Slc39a4	UTSW	15	76,497,874 (GRCm39)	missense	probably damaging	1.00
R9720:Slc39a4	UTSW	15	76,500,930 (GRCm39)	missense	probably benign	0.00
R9722:Slc39a4	UTSW	15	76,500,211 (GRCm39)	missense	possibly damaging	0.85
RF035:Slc39a4	UTSW	15	76,499,066 (GRCm39)	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76,499,071 (GRCm39)	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
RF040:Slc39a4	UTSW	15	76,499,066 (GRCm39)	small insertion	probably benign
RF041:Slc39a4	UTSW	15	76,499,066 (GRCm39)	small insertion	probably benign
RF042:Slc39a4	UTSW	15	76,499,071 (GRCm39)	small insertion	probably benign
RF043:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
RF044:Slc39a4	UTSW	15	76,499,070 (GRCm39)	small insertion	probably benign
Z1176:Slc39a4	UTSW	15	76,498,373 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGAGTACTGACTGGGGAACTTC -3'
(R):5'- AATAGATTCCTGGCACCTGC -3'

Sequencing Primer
(F):5'- ACTGGGGAACTTCAGGGCTAC -3'
(R):5'- CTGACGGCATCTCTGTAGAG -3'

Posted On

2016-11-09