Mutagenetix > Incidental Mutations

Incidental Mutation 'RF041:Slc39a4'

604834

Institutional Source

Beutler Lab

Gene Symbol

Slc39a4

Ensembl Gene

ENSMUSG00000063354

Gene Name

solute carrier family 39 (zinc transporter), member 4

Synonyms

AWMS2, zip4, 1600025H15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF041 (G1)

Quality Score

214.468

Status

Not validated

Chromosome

Chromosomal Location

76612383-76617384 bp(-) (GRCm38)

Type of Mutation

small insertion (12 aa in frame mutation)

DNA Base Change (assembly)

TGTGGTC to TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC at 76614866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155442 (fasta)

Gene Model

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

AlphaFold

Q78IQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000073428

SMART Domains

Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354

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 benign
Transcript: ENSMUST00000230977

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,881,276		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,552,873		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,552,892		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,894		probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,905,100		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,229		probably benign	Het
Arid1b	CGG	CGGTGG	17: 4,995,595		probably benign	Het
AY761185	CACTGTGGG	C	8: 20,943,912		probably null	Het
Btnl1	C	T	17: 34,381,368	T246M	probably benign	Het
Cdc40	C	T	10: 40,843,123	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,854		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,485,823		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,767,173		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,762,177		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 72,270,049		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,758		probably benign	Het
Gykl1	G	A	18: 52,694,416	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,570,613		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,171,425		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,315,775		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 93,018,141		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,826		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,829		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,275,985		probably benign	Het
Med12l	GC	GCACC	3: 59,275,995		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,941,039		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Ngfr	CAGG	C	11: 95,587,511		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,627,579		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,627,593		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,627,607		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,785,332		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,732,868		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,631,021		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,833,576		probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,100		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,190,532		probably benign	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,493,988		unknown	Het

Other mutations in Slc39a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Slc39a4	APN	15	76614203	missense	probably damaging	1.00
IGL02597:Slc39a4	APN	15	76613624	missense	probably benign
IGL02798:Slc39a4	APN	15	76615182	missense	probably benign	0.04
texline	UTSW	15	76614083	missense	probably damaging	1.00
R0519:Slc39a4	UTSW	15	76615138	missense	probably benign	0.38
R0815:Slc39a4	UTSW	15	76612639	missense	probably damaging	1.00
R1502:Slc39a4	UTSW	15	76616593	missense	probably benign	0.00
R1547:Slc39a4	UTSW	15	76614147	nonsense	probably null
R2919:Slc39a4	UTSW	15	76616670	missense	probably damaging	1.00
R4634:Slc39a4	UTSW	15	76614493	missense	probably benign
R5029:Slc39a4	UTSW	15	76614083	missense	probably damaging	1.00
R5030:Slc39a4	UTSW	15	76614083	missense	probably damaging	1.00
R5669:Slc39a4	UTSW	15	76614163	missense	probably damaging	1.00
R6020:Slc39a4	UTSW	15	76616142	missense	probably benign	0.03
R6741:Slc39a4	UTSW	15	76614083	missense	probably damaging	1.00
R6920:Slc39a4	UTSW	15	76613270	missense	probably damaging	0.99
R7072:Slc39a4	UTSW	15	76613258	missense	probably damaging	1.00
R7920:Slc39a4	UTSW	15	76614085	missense	probably damaging	1.00
R9217:Slc39a4	UTSW	15	76613926	missense	possibly damaging	0.60
R9300:Slc39a4	UTSW	15	76614559	missense	probably damaging	1.00
RF035:Slc39a4	UTSW	15	76614866	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76614870	small insertion	probably benign
RF039:Slc39a4	UTSW	15	76614871	small insertion	probably benign
RF040:Slc39a4	UTSW	15	76614866	small insertion	probably benign
RF042:Slc39a4	UTSW	15	76614871	small insertion	probably benign
RF043:Slc39a4	UTSW	15	76614870	small insertion	probably benign
RF044:Slc39a4	UTSW	15	76614870	small insertion	probably benign
Z1176:Slc39a4	UTSW	15	76614173	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGACCCATGGAAGGTTGTC -3'
(R):5'- TAGCCCTCAGTACTTTGTGGAC -3'

Sequencing Primer
(F):5'- GTCTTCTTTCTCCAGAATGGCATGAG -3'
(R):5'- CAATATCACGCTGCATGGTG -3'

Posted On

2019-12-04