Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Slc39a5'

377273

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

042495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128231800-128237098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128234316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 196 (I196V)

Ref Sequence

ENSEMBL: ENSMUSP00000131736 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000042666
AA Change: I196V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037753
Gene: ENSMUSG00000039878
AA Change: I196V

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 benign
Transcript: ENSMUST00000167859
AA Change: I196V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131736
Gene: ENSMUSG00000039878
AA Change: I196V

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

noncoding transcript
Transcript: ENSMUST00000179358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167456

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: ENSMUST00000219131

Predicted Effect

probably benign
Transcript: ENSMUST00000218858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219222

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Chsy1	A	G	7: 65,759,974 (GRCm39)	R106G	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kdsr	T	C	1: 106,680,964 (GRCm39)	K78R	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcare	C	T	17: 72,059,306 (GRCm39)	V124I	possibly damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,763,028 (GRCm39)	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Tubd1	G	C	11: 86,443,621 (GRCm39)	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	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
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
R9488:Slc39a5	UTSW	10	128,233,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGAGGCAAAACATGGAC -3'
(R):5'- GTATGAGCCAATGGGACCTG -3'

Sequencing Primer
(F):5'- TGGACACAGATACATACACTCACGG -3'
(R):5'- CAATGGGACCTGGGACTTG -3'

Posted On

2016-03-17