Mutagenetix > Incidental Mutation

Incidental Mutation 'R7394:Slc30a4'

573639

Institutional Source

Beutler Lab

Gene Symbol

Slc30a4

Ensembl Gene

ENSMUSG00000005802

Gene Name

solute carrier family 30 (zinc transporter), member 4

Synonyms

Znt4

MMRRC Submission

045476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7394 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122523153-122544583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122527224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 390 (V390I)

Ref Sequence

ENSEMBL: ENSMUSP00000005952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]

AlphaFold

O35149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005952
AA Change: V390I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: V390I

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	114	333	1.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099457
AA Change: V341I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: V341I

Domain	Start	End	E-Value	Type
low complexity region	67	83	N/A	INTRINSIC
Pfam:Cation_efflux	124	368	4.6e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,445,038 (GRCm39)	I208V	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Aldh1l2	T	A	10: 83,338,321 (GRCm39)	I646F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Ank2	T	A	3: 126,730,302 (GRCm39)	I711L	possibly damaging	Het
Ankrd6	T	C	4: 32,821,298 (GRCm39)	N251D	probably damaging	Het
Ap3m1	T	C	14: 21,088,147 (GRCm39)	T304A	probably benign	Het
Arhgef39	T	C	4: 43,499,532 (GRCm39)	T26A	possibly damaging	Het
Carnmt1	G	T	19: 18,648,201 (GRCm39)		probably benign	Het
Ccr4	C	T	9: 114,320,994 (GRCm39)	R357H	probably benign	Het
Cd4	T	A	6: 124,850,004 (GRCm39)	M104L	probably benign	Het
Cd74	A	T	18: 60,936,965 (GRCm39)		probably benign	Het
Cdcp1	T	C	9: 123,002,878 (GRCm39)	Y731C	probably damaging	Het
Cdyl2	A	G	8: 117,350,790 (GRCm39)	S114P	not run	Het
Cenpv	T	C	11: 62,427,114 (GRCm39)	D148G	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap57	T	A	4: 118,450,334 (GRCm39)	Y596F	probably benign	Het
Clec4a2	C	A	6: 123,116,079 (GRCm39)	A122E	unknown	Het
Col4a2	A	G	8: 11,496,184 (GRCm39)	T1602A	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,204,677 (GRCm39)	Y290N	probably benign	Het
Dhx38	A	T	8: 110,283,155 (GRCm39)	V554E	probably damaging	Het
Ebf2	T	C	14: 67,474,975 (GRCm39)	V70A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam217a	A	T	13: 35,094,262 (GRCm39)	I499K	possibly damaging	Het
Fras1	C	A	5: 96,860,309 (GRCm39)	Y2118*	probably null	Het
Gm3248	A	T	14: 5,945,781 (GRCm38)		probably null	Het
Gm5460	T	G	14: 33,765,879 (GRCm39)	D165E	possibly damaging	Het
Grk4	A	T	5: 34,908,962 (GRCm39)	N490Y	probably benign	Het
Iglc2	T	A	16: 19,013,886 (GRCm39)	K59*	probably null	Het
Iqsec3	T	A	6: 121,363,569 (GRCm39)	H895L	possibly damaging	Het
Itgb7	A	G	15: 102,127,689 (GRCm39)	S410P	probably damaging	Het
Kmt2d	C	A	15: 98,754,265 (GRCm39)	V1613F	unknown	Het
Lama1	T	C	17: 68,024,256 (GRCm39)	L118P		Het
Lrrc25	A	T	8: 71,070,830 (GRCm39)	S204C	possibly damaging	Het
Malrd1	A	G	2: 15,700,010 (GRCm39)	D619G	unknown	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mup17	G	A	4: 61,512,635 (GRCm39)	S86F	probably benign	Het
Nbeal2	C	T	9: 110,459,257 (GRCm39)		probably null	Het
Nfkb1	A	C	3: 135,319,458 (GRCm39)	V291G	possibly damaging	Het
Nomo1	G	T	7: 45,715,903 (GRCm39)	V757F	probably benign	Het
Nutm2	T	A	13: 50,624,043 (GRCm39)	S247T	probably damaging	Het
Or2at1	C	A	7: 99,416,553 (GRCm39)	H61Q	probably damaging	Het
Or4c120	C	T	2: 89,000,705 (GRCm39)	V284I	probably benign	Het
Or4f4-ps1	G	T	2: 111,330,241 (GRCm39)	A215S	probably damaging	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or9k2b	T	A	10: 130,016,123 (GRCm39)	I209F	probably damaging	Het
Pcdhb14	A	G	18: 37,581,961 (GRCm39)	I356V	probably benign	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ppia	T	C	11: 6,369,218 (GRCm39)	S99P	possibly damaging	Het
Prss47	C	T	13: 65,192,807 (GRCm39)	V325I	probably benign	Het
Ptgr3	C	T	18: 84,106,315 (GRCm39)	A9V	probably benign	Het
Ptk7	T	C	17: 46,902,683 (GRCm39)	D34G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Rasa3	G	T	8: 13,645,353 (GRCm39)	D195E	probably benign	Het
Rnf150	T	A	8: 83,717,100 (GRCm39)	Y202*	probably null	Het
Sh2d1b2	T	C	1: 170,075,716 (GRCm39)	V50A	probably damaging	Het
Slc30a9	G	T	5: 67,510,109 (GRCm39)		probably null	Het
Slc8a3	T	A	12: 81,260,832 (GRCm39)		probably null	Het
Smpd3	G	A	8: 106,991,642 (GRCm39)	R304W	probably damaging	Het
Snta1	A	G	2: 154,218,780 (GRCm39)	S490P	probably damaging	Het
Srcap	T	G	7: 127,134,000 (GRCm39)	M887R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sult2a3	T	C	7: 13,845,449 (GRCm39)	T137A	probably benign	Het
Tspoap1	C	T	11: 87,656,945 (GRCm39)	Q367*	probably null	Het
Uroc1	C	T	6: 90,322,315 (GRCm39)	R280C	probably damaging	Het
Ush2a	T	C	1: 188,643,613 (GRCm39)	I4325T	possibly damaging	Het
Vmn1r32	A	G	6: 66,530,173 (GRCm39)	I201T	probably benign	Het
Zbtb47	T	A	9: 121,596,411 (GRCm39)	M626K	probably damaging	Het

Other mutations in Slc30a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Slc30a4	APN	2	122,544,308 (GRCm39)	missense	possibly damaging	0.87
IGL01583:Slc30a4	APN	2	122,527,137 (GRCm39)	missense	probably benign
IGL01823:Slc30a4	APN	2	122,544,012 (GRCm39)	missense	probably damaging	1.00
IGL02086:Slc30a4	APN	2	122,543,947 (GRCm39)	splice site	probably benign
F5770:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0060:Slc30a4	UTSW	2	122,527,104 (GRCm39)	missense	probably benign
R0373:Slc30a4	UTSW	2	122,531,319 (GRCm39)	missense	probably damaging	0.99
R0591:Slc30a4	UTSW	2	122,527,160 (GRCm39)	missense	probably damaging	1.00
R1514:Slc30a4	UTSW	2	122,531,334 (GRCm39)	missense	probably damaging	1.00
R1552:Slc30a4	UTSW	2	122,527,936 (GRCm39)	missense	probably benign	0.05
R3847:Slc30a4	UTSW	2	122,544,192 (GRCm39)	missense	probably damaging	1.00
R4195:Slc30a4	UTSW	2	122,527,190 (GRCm39)	missense	probably damaging	1.00
R4501:Slc30a4	UTSW	2	122,527,136 (GRCm39)	missense	probably benign
R5558:Slc30a4	UTSW	2	122,528,903 (GRCm39)	missense	probably damaging	1.00
R6379:Slc30a4	UTSW	2	122,531,469 (GRCm39)	missense	probably damaging	1.00
R6393:Slc30a4	UTSW	2	122,527,966 (GRCm39)	missense	probably damaging	1.00
R9464:Slc30a4	UTSW	2	122,527,200 (GRCm39)	missense	probably damaging	1.00
R9765:Slc30a4	UTSW	2	122,536,456 (GRCm39)	missense	probably damaging	1.00
V7580:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7581:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7582:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00
V7583:Slc30a4	UTSW	2	122,531,458 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGGGACTCCATTAGGTTTAC -3'
(R):5'- ATTCTGGGCTTAGAAACTGCC -3'

Sequencing Primer
(F):5'- GCTCTCAAGTCTGTACTTCAGG -3'
(R):5'- GGGCTTAGAAACTGCCTTCTGC -3'

Posted On

2019-09-13