Mutagenetix > Incidental Mutation

Incidental Mutation 'R9488:Slc39a5'

716763

Institutional Source

Beutler Lab

Gene Symbol

Slc39a5

Ensembl Gene

ENSMUSG00000039878

Gene Name

solute carrier family 39 (metal ion transporter), member 5

Synonyms

1810013D05Rik, 2010205A06Rik, Zip5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128231800-128237098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128233628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 290 (L290F)

Ref Sequence

ENSEMBL: ENSMUSP00000037753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014642] [ENSMUST00000026439] [ENSMUST00000042666] [ENSMUST00000164199] [ENSMUST00000164664] [ENSMUST00000166608] [ENSMUST00000167859] [ENSMUST00000172348] [ENSMUST00000218858] [ENSMUST00000219131]

AlphaFold

Q9D856

Predicted Effect

probably benign
Transcript: ENSMUST00000014642

SMART Domains

Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498

Domain	Start	End	E-Value	Type
ANK	7	36	4.44e2	SMART
ANK	40	69	6.55e-5	SMART
ANK	73	102	1.03e-2	SMART
ANK	106	135	1.5e1	SMART
ANK	139	168	5.49e-7	SMART
ANK	172	201	3.01e-4	SMART
ANK	205	234	1.2e-3	SMART
ANK	238	267	2.62e-4	SMART
ANK	271	301	9.78e-4	SMART
ANK	305	334	3.85e-2	SMART
ANK	338	367	5.62e-4	SMART
ANK	371	402	1.55e2	SMART
ANK	422	451	2.16e-5	SMART
ANK	455	484	3.28e-5	SMART
ANK	488	545	2.79e1	SMART
ANK	549	578	5.45e-2	SMART
ANK	584	613	1.84e1	SMART
ANK	617	646	3.85e-2	SMART
ANK	651	682	2.1e-3	SMART
ANK	687	716	6.76e-7	SMART
ANK	720	749	1.07e0	SMART
ANK	753	784	2.92e-2	SMART
ANK	790	819	1.12e-3	SMART
ANK	822	853	9.75e1	SMART
ANK	857	886	1.99e-4	SMART
ANK	890	920	5.09e-2	SMART
ANK	924	953	2.54e-2	SMART
ANK	960	989	1.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026439

SMART Domains

Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000042666
AA Change: L290F

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

SMART Domains

Protein: ENSMUSP00000037753
Gene: ENSMUSG00000039878
AA Change: L290F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	133	152	N/A	INTRINSIC
Pfam:Zip	208	522	2.3e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164199

SMART Domains

Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164664

SMART Domains

Protein: ENSMUSP00000127605
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	5.8e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166577

SMART Domains

Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498

Domain	Start	End	E-Value	Type
ANK	18	48	5.09e-2	SMART
ANK	52	81	2.54e-2	SMART
ANK	88	117	1.34e-1	SMART
Blast:ANK	121	148	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166608

SMART Domains

Protein: ENSMUSP00000131171
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	39	120	4.2e-9	PFAM
low complexity region	147	164	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	201	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167859
AA Change: L290F

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

SMART Domains

Protein: ENSMUSP00000131736
Gene: ENSMUSG00000039878
AA Change: L290F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	133	152	N/A	INTRINSIC
Pfam:Zip	208	522	3.2e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172348

SMART Domains

Protein: ENSMUSP00000127015
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	6.1e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218858

Predicted Effect

probably benign
Transcript: ENSMUST00000219131

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered zinc homeostasis and increased susceptibility to zinc-induced pancretitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,212 (GRCm39)	I294L	probably benign	Het
Ankrd35	A	T	3: 96,589,343 (GRCm39)	K187N	probably damaging	Het
Arhgap40	C	T	2: 158,391,571 (GRCm39)	T631M	possibly damaging	Het
Arpin	T	C	7: 79,584,979 (GRCm39)	Y5C	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,724 (GRCm39)	Y77C		Het
Cdk17	A	G	10: 93,044,066 (GRCm39)	K2E	probably damaging	Het
Cdk18	A	G	1: 132,049,260 (GRCm39)	F86L	probably benign	Het
Cfap418	A	G	4: 10,893,271 (GRCm39)	D130G	probably damaging	Het
Clca4a	T	C	3: 144,659,532 (GRCm39)	T775A	probably damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Col6a5	T	C	9: 105,741,788 (GRCm39)	Y2377C	probably damaging	Het
Drd2	T	C	9: 49,311,094 (GRCm39)	V115A	probably damaging	Het
Dsp	A	G	13: 38,377,218 (GRCm39)	R1668G	probably benign	Het
Eif2d	T	A	1: 131,082,962 (GRCm39)	V102E	probably damaging	Het
Fmo4	A	G	1: 162,631,337 (GRCm39)	V210A	probably damaging	Het
Galntl5	A	G	5: 25,415,437 (GRCm39)	R323G	probably damaging	Het
Git2	T	C	5: 114,904,533 (GRCm39)	T129A	probably benign	Het
Gm572	A	G	4: 148,752,913 (GRCm39)	H264R	possibly damaging	Het
Hnrnpll	T	C	17: 80,369,385 (GRCm39)	T13A	unknown	Het
Ighv7-4	T	C	12: 114,186,619 (GRCm39)	Y51C	probably damaging	Het
Irag2	G	A	6: 145,113,753 (GRCm39)	R307Q	probably damaging	Het
Jam2	A	G	16: 84,619,676 (GRCm39)	D289G	probably damaging	Het
Krt27	A	G	11: 99,239,535 (GRCm39)		probably null	Het
Lama5	T	C	2: 179,823,234 (GRCm39)	N2704S	possibly damaging	Het
Lhx8	A	T	3: 154,033,764 (GRCm39)	S70T	possibly damaging	Het
Lmo7	C	A	14: 102,122,783 (GRCm39)	T324N	possibly damaging	Het
Man2a1	A	G	17: 65,040,734 (GRCm39)	T907A	possibly damaging	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mga	C	T	2: 119,795,304 (GRCm39)	A2996V	possibly damaging	Het
Mybpc1	A	T	10: 88,379,624 (GRCm39)	M625K	possibly damaging	Het
Ncald	T	A	15: 37,372,369 (GRCm39)	N159Y	probably damaging	Het
Nfasc	T	C	1: 132,527,866 (GRCm39)	T832A	possibly damaging	Het
P2rx5	T	A	11: 73,056,427 (GRCm39)	I117N		Het
Pcdhb3	C	A	18: 37,435,416 (GRCm39)	R461S	possibly damaging	Het
Polr1b	T	C	2: 128,967,417 (GRCm39)	S937P	probably damaging	Het
Prep	C	A	10: 44,996,807 (GRCm39)	Q362K		Het
Prg4	T	C	1: 150,327,024 (GRCm39)	M342V	probably benign	Het
Prr14	A	T	7: 127,073,687 (GRCm39)	T184S	possibly damaging	Het
Prss58	A	G	6: 40,874,382 (GRCm39)	I98T	probably benign	Het
Pum3	T	C	19: 27,394,188 (GRCm39)	T361A	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,591,067 (GRCm39)	V424A	probably benign	Het
Sema6a	A	T	18: 47,437,216 (GRCm39)	I58N	probably damaging	Het
Slc13a3	T	A	2: 165,250,851 (GRCm39)	Y506F	probably damaging	Het
Slc15a2	A	G	16: 36,579,651 (GRCm39)	V365A	probably benign	Het
Spata31f1a	A	G	4: 42,850,560 (GRCm39)	V532A	probably benign	Het
Taf6l	T	C	19: 8,759,436 (GRCm39)	T161A	probably benign	Het
Tbl2	T	A	5: 135,187,471 (GRCm39)	C243S	probably benign	Het
Tet2	A	T	3: 133,193,103 (GRCm39)	S444T	probably benign	Het
Thoc1	C	T	18: 9,992,168 (GRCm39)	L499F	probably damaging	Het
Tnc	A	G	4: 63,913,942 (GRCm39)	V1290A	probably damaging	Het
Tnpo1	T	C	13: 98,990,003 (GRCm39)	D716G	probably damaging	Het
Tpp2	A	T	1: 44,041,272 (GRCm39)	K1236N	probably benign	Het
Tshr	T	C	12: 91,504,589 (GRCm39)	V509A	probably damaging	Het
U2surp	T	C	9: 95,356,535 (GRCm39)	T775A		Het
Ubap2l	T	C	3: 89,928,656 (GRCm39)	T486A	probably benign	Het
Usp28	C	A	9: 48,935,288 (GRCm39)	P457T	probably damaging	Het
Usp44	A	G	10: 93,682,851 (GRCm39)	I387V	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,793 (GRCm39)	D78G	probably damaging	Het
Vps13b	T	C	15: 35,447,880 (GRCm39)	M537T	possibly damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zfp1005	G	A	2: 150,110,477 (GRCm39)	G389D	unknown	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Slc39a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02535:Slc39a5	APN	10	128,235,199 (GRCm39)	missense	probably benign	0.00
IGL02666:Slc39a5	APN	10	128,234,324 (GRCm39)	missense	probably damaging	1.00
R0305:Slc39a5	UTSW	10	128,234,265 (GRCm39)	unclassified	probably benign
R0350:Slc39a5	UTSW	10	128,232,619 (GRCm39)	critical splice donor site	probably null
R0437:Slc39a5	UTSW	10	128,235,716 (GRCm39)	missense	possibly damaging	0.94
R1401:Slc39a5	UTSW	10	128,233,610 (GRCm39)	missense	probably damaging	1.00
R2025:Slc39a5	UTSW	10	128,234,280 (GRCm39)	missense	probably damaging	1.00
R2025:Slc39a5	UTSW	10	128,234,279 (GRCm39)	missense	probably damaging	1.00
R2286:Slc39a5	UTSW	10	128,231,929 (GRCm39)	missense	probably benign	0.00
R4041:Slc39a5	UTSW	10	128,232,337 (GRCm39)	missense	possibly damaging	0.95
R4649:Slc39a5	UTSW	10	128,233,136 (GRCm39)	missense	probably benign	0.00
R4776:Slc39a5	UTSW	10	128,232,918 (GRCm39)	missense	probably damaging	0.98
R4890:Slc39a5	UTSW	10	128,234,316 (GRCm39)	missense	probably benign	0.13
R5911:Slc39a5	UTSW	10	128,235,812 (GRCm39)	missense	probably damaging	1.00
R6703:Slc39a5	UTSW	10	128,233,651 (GRCm39)	missense	probably damaging	1.00
R8428:Slc39a5	UTSW	10	128,232,884 (GRCm39)	missense	probably damaging	1.00
R8997:Slc39a5	UTSW	10	128,232,348 (GRCm39)	missense	probably damaging	0.98
R9487:Slc39a5	UTSW	10	128,233,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCAGGTCTATGCTAAGGG -3'
(R):5'- AGCTGTCTTCTTCTAGGATGC -3'

Sequencing Primer
(F):5'- ACAGGTCCTATGTGATTGGCCAAG -3'
(R):5'- TGCATGAGTAAAAAGCTTGCTG -3'

Posted On

2022-07-18