Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Slc39a4'

604727

Institutional Source

Beutler Lab

Gene Symbol

Slc39a4

Ensembl Gene

ENSMUSG00000063354

Gene Name

solute carrier family 39 (zinc transporter), member 4

Synonyms

AWMS2, 1600025H15Rik, zip4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF039 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

76496583-76501579 bp(-) (GRCm39)

Type of Mutation

small insertion (12 aa in frame mutation)

DNA Base Change (assembly)

GTC to GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC at 76499070 bp (GRCm39)

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: 99.3%
20x: 98.5%

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
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,971 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cckbr	GCA	G	7: 105,083,893 (GRCm39)		probably null	Het
Cd276	G	A	9: 58,442,787 (GRCm39)	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,702,551 (GRCm39)		probably benign	Het
Eps8	C	CTCAT	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	CACAGCCA	C	12: 80,522,715 (GRCm39)		probably null	Het
Gab3	TTC	TTCGTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,489,146 (GRCm39)		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 67,875,924 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGTTGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,089,662 (GRCm39)		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 75,184,989 (GRCm39)		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,281,057 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,136,785 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Nalf2	CCG	CCGCCGGCG	X: 98,864,978 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,007 (GRCm39)		probably benign	Het
Or4k41	G	A	2: 111,279,896 (GRCm39)	G137D	not run	Het
Pdcd11	GGAGGAGA	G	19: 47,101,894 (GRCm39)		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,695,369 (GRCm39)		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)		probably null	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Spmap2l	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,164,249 (GRCm39)		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,984,707 (GRCm39)		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tent4a	GACA	G	13: 69,681,973 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,035 (GRCm39)		probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,851,236 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,280,628 (GRCm39)	R73Q	possibly damaging	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)		probably benign	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,163,543 (GRCm39)		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
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
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'- TCTGAACAGACCCATGGAAGG -3'
(R):5'- GGACTTTGTGTTCAGGCTACAC -3'

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

Posted On

2019-12-04