Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Slc39a2'

587930

Institutional Source

Beutler Lab

Gene Symbol

Slc39a2

Ensembl Gene

ENSMUSG00000072572

Gene Name

solute carrier family 39 (zinc transporter), member 2

Synonyms

zip2, F730005G13Rik

MMRRC Submission

045673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52130539-52134202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52132488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 144 (T144S)

Ref Sequence

ENSEMBL: ENSMUSP00000038707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000164252] [ENSMUST00000164902] [ENSMUST00000165100] [ENSMUST00000165568]

AlphaFold

G3X943

Predicted Effect

probably benign
Transcript: ENSMUST00000047726
AA Change: T144S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572
AA Change: T144S

Domain	Start	End	E-Value	Type
Pfam:Zip	5	306	1.1e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047899

SMART Domains

Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	442	8e-65	PFAM
Pfam:Methyltransf_11	191	293	5.9e-7	PFAM
low complexity region	446	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164252

SMART Domains

Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164902

SMART Domains

Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	467	1.7e-61	PFAM
Pfam:Methyltransf_11	191	294	3.6e-6	PFAM
low complexity region	471	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165100

SMART Domains

Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165568

SMART Domains

Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
Pfam:Rsm22	100	269	1.5e-37	PFAM
Pfam:Methyltransf_11	138	240	2.1e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a null allele are overtly normal when fed a zinc-replete diet but show increased sensitivity to the effects of maternal dietary zinc deficiency during pregnancy. Resulting embryos are often growth retarded with craniofacial and limb defects, and show altered iron and calcium levels. [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
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,787,755 (GRCm39)	K453*	probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,858,451 (GRCm39)	V226I	possibly damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hdac1	G	T	4: 129,411,259 (GRCm39)	S421*	probably null	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
L3mbtl1	A	C	2: 162,806,434 (GRCm39)	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ppard	T	A	17: 28,516,091 (GRCm39)	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	probably benign	Het

Other mutations in Slc39a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Slc39a2	APN	14	52,132,593 (GRCm39)	nonsense	probably null
IGL02421:Slc39a2	APN	14	52,131,329 (GRCm39)	missense	probably benign	0.00
IGL02546:Slc39a2	APN	14	52,132,620 (GRCm39)	missense	probably benign	0.16
IGL02823:Slc39a2	APN	14	52,132,869 (GRCm39)	missense	probably damaging	1.00
R1126:Slc39a2	UTSW	14	52,131,602 (GRCm39)	missense	probably damaging	1.00
R4923:Slc39a2	UTSW	14	52,132,711 (GRCm39)	missense	probably damaging	1.00
R5106:Slc39a2	UTSW	14	52,132,988 (GRCm39)	makesense	probably null
R6158:Slc39a2	UTSW	14	52,131,681 (GRCm39)	splice site	probably null
R7094:Slc39a2	UTSW	14	52,131,146 (GRCm39)	unclassified	probably benign
R7324:Slc39a2	UTSW	14	52,131,650 (GRCm39)	missense	possibly damaging	0.74
R7340:Slc39a2	UTSW	14	52,131,660 (GRCm39)	missense	possibly damaging	0.87
R7578:Slc39a2	UTSW	14	52,132,873 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc39a2	UTSW	14	52,131,352 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAGCGGCATTTTGTCCC -3'
(R):5'- TTATGAGCCAGCACAGCGAC -3'

Sequencing Primer
(F):5'- CCGGGTCCACTCTATGTCG -3'
(R):5'- ACACAGAGCTGTATGGTGGCC -3'

Posted On

2019-10-24