Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Slc39a4'

648312

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

045967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76496583-76501579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76498285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 384 (G384D)

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: G384D

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

SMART Domains

Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: G384D

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

probably damaging
Transcript: ENSMUST00000230977
AA Change: G384D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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.] 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,818,130 (GRCm39)	S9P	probably damaging	Het
AI661453	A	T	17: 47,779,331 (GRCm39)	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,595,301 (GRCm39)	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,896,651 (GRCm39)	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,562,436 (GRCm39)	I197F	probably damaging	Het
Cfap119	A	G	7: 127,187,125 (GRCm39)	M46T	probably benign	Het
Cfb	A	G	17: 35,079,867 (GRCm39)	V176A	probably benign	Het
Chordc1	A	G	9: 18,213,397 (GRCm39)	K83E	probably benign	Het
Cic	G	A	7: 24,971,384 (GRCm39)	V372M	probably benign	Het
Coq2	T	A	5: 100,811,741 (GRCm39)		probably benign	Het
Cradd	A	G	10: 95,158,573 (GRCm39)	L58P	probably damaging	Het
Crim1	A	T	17: 78,610,493 (GRCm39)	D316V	probably damaging	Het
Cyb5rl	C	A	4: 106,928,205 (GRCm39)	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,866,247 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,894,927 (GRCm39)	F181S	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,483,383 (GRCm39)	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,578,499 (GRCm39)	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,368 (GRCm39)	M4380L	probably benign	Het
Dph7	A	T	2: 24,861,624 (GRCm39)	M346L	probably benign	Het
Eef1ece2	A	G	16: 20,456,442 (GRCm39)	E428G	possibly damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcna	T	C	2: 25,516,298 (GRCm39)	K112E	probably benign	Het
Fkbp5	A	T	17: 28,648,213 (GRCm39)	N125K	possibly damaging	Het
Foxo3	C	T	10: 42,073,765 (GRCm39)	V251I	possibly damaging	Het
Fryl	T	A	5: 73,259,150 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,781,365 (GRCm39)	E253G	possibly damaging	Het
Gprc6a	T	A	10: 51,491,026 (GRCm39)	T908S	probably benign	Het
Grin2c	A	T	11: 115,144,970 (GRCm39)	F560L	probably benign	Het
Hao1	T	A	2: 134,390,172 (GRCm39)	N56Y	probably damaging	Het
Haus3	T	C	5: 34,325,046 (GRCm39)	I204M	probably benign	Het
Htr3b	C	A	9: 48,848,456 (GRCm39)	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274 (GRCm39)	C120S	probably benign	Het
Inpp4a	T	A	1: 37,406,886 (GRCm39)	S210T	probably benign	Het
Inpp5d	T	G	1: 87,633,671 (GRCm39)	I699S	probably damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Lcn11	G	A	2: 25,669,343 (GRCm39)	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,670,382 (GRCm39)	R516L	probably benign	Het
Lrmda	T	C	14: 22,646,546 (GRCm39)	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,333,578 (GRCm39)	I133R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mroh7	T	C	4: 106,564,773 (GRCm39)	T562A	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Or13a25	A	T	7: 140,247,814 (GRCm39)	S198C	possibly damaging	Het
Pkhd1	A	T	1: 20,345,759 (GRCm39)	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,359,432 (GRCm39)	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,486,354 (GRCm39)	G605D	probably benign	Het
Pygb	T	A	2: 150,628,922 (GRCm39)	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,058,069 (GRCm39)	T54A	probably damaging	Het
Scrt1	T	A	15: 76,403,417 (GRCm39)	H191L	unknown	Het
Sdc3	A	G	4: 130,546,507 (GRCm39)	M289V	probably benign	Het
Shb	C	T	4: 45,489,054 (GRCm39)		probably null	Het
Slc1a5	A	G	7: 16,527,795 (GRCm39)	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,960,564 (GRCm39)	V218A	probably benign	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Styxl2	T	A	1: 165,927,465 (GRCm39)	N716Y	possibly damaging	Het
Tmem67	A	T	4: 12,089,284 (GRCm39)		probably null	Het
Tonsl	C	T	15: 76,518,787 (GRCm39)	R544H	probably damaging	Het
Trex1	A	G	9: 108,887,157 (GRCm39)	V278A	unknown	Het
Ttn	A	T	2: 76,625,501 (GRCm39)	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,466,310 (GRCm39)	T621A	probably benign	Het
Zfhx4	T	C	3: 5,465,515 (GRCm39)	V1916A	possibly damaging	Het
Zfp260	A	T	7: 29,805,017 (GRCm39)	K306*	probably null	Het
Zkscan7	A	T	9: 122,724,974 (GRCm39)	T648S	probably benign	Het
Zscan4c	T	A	7: 10,743,699 (GRCm39)	F433I	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
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
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
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'- ATGTAGAAGCCTCCAAGTACAGC -3'
(R):5'- TCTCAGTGTAGACTCACCCAC -3'

Sequencing Primer
(F):5'- CCTCCTCATGGGTGTGACC -3'
(R):5'- CACAGGGTATCTCTATGGCTCG -3'

Posted On

2020-09-15