Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Slc39a10'

522402

Institutional Source

Beutler Lab

Gene Symbol

Slc39a10

Ensembl Gene

ENSMUSG00000025986

Gene Name

solute carrier family 39 (zinc transporter), member 10

Synonyms

2900042E17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46807544-46892852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46835564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 193 (T193S)

Ref Sequence

ENSEMBL: ENSMUSP00000027131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027131] [ENSMUST00000185520] [ENSMUST00000186852]

AlphaFold

Q6P5F6

Predicted Effect

probably benign
Transcript: ENSMUST00000027131
AA Change: T193S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: T193S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	122	134	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
low complexity region	224	244	N/A	INTRINSIC
Pfam:Zip	406	607	9.9e-44	PFAM
Pfam:Zip	588	821	2.5e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141226

Predicted Effect

probably benign
Transcript: ENSMUST00000185520

SMART Domains

Protein: ENSMUSP00000140570
Gene: ENSMUSG00000025986

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186852

SMART Domains

Protein: ENSMUSP00000140176
Gene: ENSMUSG00000025986

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	122	134	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice with conditional loss of function display defects in cellular proliferation and differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,362	T1246S	possibly damaging	Het
4933434E20Rik	A	G	3: 90,063,236	K26E	probably benign	Het
Abt1	T	G	13: 23,423,588	E82A	probably damaging	Het
Actr8	A	G	14: 29,986,454		probably null	Het
Akap12	G	T	10: 4,356,141	E984*	probably null	Het
Ankrd13a	C	A	5: 114,804,392		probably benign	Het
Ankrd13c	T	A	3: 157,999,672	S411T	probably damaging	Het
Arhgef28	A	G	13: 97,988,139		probably null	Het
Arhgef3	A	T	14: 27,152,996		probably benign	Het
Atad5	T	C	11: 80,133,206	S1712P	probably benign	Het
Bbs12	A	G	3: 37,320,240	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,662,722	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,150,814	N89S	probably damaging	Het
Cenpu	T	C	8: 46,572,823	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,078,539	W157*	probably null	Het
Ctnnd1	A	G	2: 84,624,308	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 23,917,598		probably benign	Het
Dock7	A	T	4: 98,991,410	V969D	probably damaging	Het
Ehd2	C	A	7: 15,957,567	R280L	probably benign	Het
Entpd5	T	C	12: 84,386,200	T218A	probably damaging	Het
Fcrls	A	C	3: 87,257,328	I297S	probably benign	Het
Frmpd2	T	A	14: 33,571,915	L1346Q	probably benign	Het
Fry	T	C	5: 150,326,149	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,504,886	I179F	probably damaging	Het
Gm17067	A	T	7: 42,708,729	S116R	probably damaging	Het
Gm5565	G	T	5: 146,158,154	P261T	probably damaging	Het
Gm609	C	T	16: 45,444,079	E39K	probably benign	Het
Kat6a	T	C	8: 22,911,787	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,473,184		probably null	Het
Krt6a	T	A	15: 101,691,659	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,970,204	T723I	probably benign	Het
Lamb2	A	T	9: 108,487,008	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,598,186		probably benign	Het
Lysmd2	C	T	9: 75,635,409	T95I	unknown	Het
Ndst3	A	G	3: 123,552,532	S698P	probably damaging	Het
Nin	T	C	12: 70,055,954	D300G	probably damaging	Het
Nutf2	G	T	8: 105,875,626	D23Y	probably benign	Het
Olfr801	G	A	10: 129,670,139	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,980,273	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,946,593	I633V	probably benign	Het
Pik3r3	C	T	4: 116,299,809	Q496*	probably null	Het
Pkn3	G	T	2: 30,080,687		probably null	Het
Plin2	A	T	4: 86,658,595	S298T	probably benign	Het
Prdm8	T	C	5: 98,183,343	V18A	possibly damaging	Het
Rel	C	A	11: 23,757,026	G59*	probably null	Het
Siglecg	A	G	7: 43,409,057	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,793	I49F	probably benign	Het
Slc9a3	T	A	13: 74,155,161	V191E	probably damaging	Het
Sult2b1	A	C	7: 45,742,246	S39A	probably benign	Het
Tead1	A	G	7: 112,861,443	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445		probably null	Het
Trim12c	A	T	7: 104,345,134		probably null	Het
Trpm6	T	A	19: 18,838,042	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,262,241	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,780,427	I85F	probably benign	Het
Vwde	T	A	6: 13,193,123	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,155,068		probably null	Het
Zcchc14	A	T	8: 121,604,103	N840K	probably damaging	Het
Zfp451	C	A	1: 33,762,179	S1052I	possibly damaging	Het

Other mutations in Slc39a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Slc39a10	APN	1	46819057	splice site	probably benign
IGL01628:Slc39a10	APN	1	46835523	missense	probably benign	0.23
IGL01939:Slc39a10	APN	1	46832735	missense	probably benign	0.07
IGL02068:Slc39a10	APN	1	46819439	splice site	probably benign
IGL02093:Slc39a10	APN	1	46835209	missense	probably damaging	1.00
IGL02101:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02122:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02125:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02171:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02175:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02186:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02699:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02700:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
R0217:Slc39a10	UTSW	1	46835540	missense	probably benign
R0704:Slc39a10	UTSW	1	46835861	missense	possibly damaging	0.76
R0782:Slc39a10	UTSW	1	46835996	missense	probably damaging	0.97
R1527:Slc39a10	UTSW	1	46819262	missense	probably benign
R1566:Slc39a10	UTSW	1	46836085	missense	possibly damaging	0.90
R1568:Slc39a10	UTSW	1	46826215	missense	probably benign	0.00
R1664:Slc39a10	UTSW	1	46826109	missense	probably damaging	1.00
R1830:Slc39a10	UTSW	1	46836070	missense	probably damaging	1.00
R1954:Slc39a10	UTSW	1	46835174	missense	possibly damaging	0.50
R2327:Slc39a10	UTSW	1	46835996	missense	probably damaging	0.97
R3434:Slc39a10	UTSW	1	46835717	missense	probably benign
R3761:Slc39a10	UTSW	1	46812125	missense	possibly damaging	0.88
R4035:Slc39a10	UTSW	1	46812074	missense	probably damaging	1.00
R4419:Slc39a10	UTSW	1	46810066	missense	probably benign	0.42
R4675:Slc39a10	UTSW	1	46817984	intron	probably benign
R4689:Slc39a10	UTSW	1	46836013	missense	probably benign	0.00
R5310:Slc39a10	UTSW	1	46836125	missense	probably damaging	1.00
R6073:Slc39a10	UTSW	1	46832612	missense	possibly damaging	0.68
R6161:Slc39a10	UTSW	1	46827407	missense	probably damaging	1.00
R6199:Slc39a10	UTSW	1	46835833	missense	probably damaging	1.00
R7087:Slc39a10	UTSW	1	46835720	missense	probably damaging	1.00
R7222:Slc39a10	UTSW	1	46819292	missense	possibly damaging	0.82
R7286:Slc39a10	UTSW	1	46810070	missense	probably damaging	0.97
R7568:Slc39a10	UTSW	1	46835130	missense	probably benign	0.14
R7891:Slc39a10	UTSW	1	46812168	missense	probably damaging	1.00
R7918:Slc39a10	UTSW	1	46835752	missense	possibly damaging	0.88
R9725:Slc39a10	UTSW	1	46810063	missense	probably damaging	1.00
RF020:Slc39a10	UTSW	1	46810015	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCTGGTGTATTAACCTCCGAG -3'
(R):5'- ATTCTGGCAGTGCAAGAGGG -3'

Sequencing Primer
(F):5'- GGTGTATTAACCTCCGAGTTTTC -3'
(R):5'- GAAAGCATTTCCATTCGCATACC -3'

Posted On

2018-06-06