Mutagenetix > Incidental Mutation

Incidental Mutation 'R0815:Slc39a4'

218897

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

038995-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0815 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76496583-76501579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76496839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 574 (D574N)

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: D574N

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

SMART Domains

Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: D574N

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

possibly damaging
Transcript: ENSMUST00000230977
AA Change: D627N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.3710

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,865,184 (GRCm39)		probably benign	Het
Abcf2	A	T	5: 24,772,268 (GRCm39)	Y487N	probably damaging	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,609,299 (GRCm39)	I188V	probably benign	Het
Cacna1s	A	T	1: 136,040,695 (GRCm39)	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,308,617 (GRCm39)	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,360,658 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,656,372 (GRCm39)	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,610,036 (GRCm39)	Y259F	probably benign	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fbxo21	T	C	5: 118,133,573 (GRCm39)		probably benign	Het
Frmd8	A	T	19: 5,915,084 (GRCm39)		probably benign	Het
Gfm1	T	C	3: 67,381,928 (GRCm39)	S705P	probably damaging	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Lipm	A	T	19: 34,096,161 (GRCm39)	T326S	probably benign	Het
Lrrc8c	T	C	5: 105,756,400 (GRCm39)	L725P	probably damaging	Het
Map3k19	A	G	1: 127,762,375 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,104,657 (GRCm39)	N50I	probably damaging	Het
Myo15b	T	G	11: 115,757,162 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,528,893 (GRCm39)	L199S	probably damaging	Het
Nod2	G	A	8: 89,399,290 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or2ak6	A	G	11: 58,593,435 (GRCm39)	R303G	possibly damaging	Het
Or5b21	A	G	19: 12,840,008 (GRCm39)	I290V	probably benign	Het
Parva	G	A	7: 112,167,071 (GRCm39)	V215M	probably damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Rbm11	C	T	16: 75,393,525 (GRCm39)	R74C	probably damaging	Het
Robo3	A	G	9: 37,333,479 (GRCm39)	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,861,469 (GRCm39)	S522A	probably damaging	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,506,612 (GRCm39)	Q909*	probably null	Het
Slc38a11	T	A	2: 65,184,124 (GRCm39)	I176L	possibly damaging	Het
Slc44a1	T	G	4: 53,536,421 (GRCm39)	V199G	possibly damaging	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Son	C	A	16: 91,452,372 (GRCm39)	A373D	probably damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Speg	A	G	1: 75,392,036 (GRCm39)	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,621,379 (GRCm39)	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,765,908 (GRCm39)		probably null	Het
Supt4a	T	A	11: 87,628,409 (GRCm39)		probably benign	Het
Teddm1b	A	G	1: 153,750,638 (GRCm39)	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tinf2	G	A	14: 55,917,566 (GRCm39)	P308S	probably benign	Het
Tmem131l	A	G	3: 83,847,879 (GRCm39)	S329P	probably benign	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Upp2	A	G	2: 58,661,568 (GRCm39)	T144A	probably benign	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	possibly damaging	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
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
R5669:Slc39a4	UTSW	15	76,498,363 (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'- ACCCGTAGTGGGGCCAACAATTAG -3'
(R):5'- ATGGATTGCCGGACTGCCTTTG -3'

Sequencing Primer
(F):5'- CCAACAATTAGGTGGCTTAAGAAG -3'
(R):5'- TCTAGCAGTCGGAGTAGGC -3'

Posted On

2014-08-22