Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Slc39a10'

404756

Institutional Source

Beutler Lab

Gene Symbol

Slc39a10

Ensembl Gene

ENSMUSG00000025986

Gene Name

solute carrier family 39 (zinc transporter), member 10

Synonyms

2900042E17Rik

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

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

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46807544-46892852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46836125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 6 (H6Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140176 (fasta)

Gene Model

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

AlphaFold

Q6P5F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027131
AA Change: H6Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: H6Y

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 damaging
Transcript: ENSMUST00000185520
AA Change: H16Y

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

SMART Domains

Protein: ENSMUSP00000140570
Gene: ENSMUSG00000025986
AA Change: H16Y

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 damaging
Transcript: ENSMUST00000186852
AA Change: H6Y

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

SMART Domains

Protein: ENSMUSP00000140176
Gene: ENSMUSG00000025986
AA Change: H6Y

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

Meta Mutation Damage Score

0.1868

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	C	1: 26,685,088	V337G	probably benign	Het
Abca15	A	T	7: 120,332,616	I31L	possibly damaging	Het
Abca17	T	C	17: 24,281,230	K1329R	probably benign	Het
Acap2	A	G	16: 31,133,609	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,476,690	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,615,368	S870T	possibly damaging	Het
Anapc4	A	G	5: 52,859,159	E493G	probably benign	Het
Ap2a1	A	G	7: 44,906,065		probably null	Het
Arhgef38	A	G	3: 133,116,466	L179P	probably damaging	Het
Bicral	T	C	17: 46,813,983	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,715,776	L154Q	probably damaging	Het
Cd40	T	C	2: 165,063,563		probably null	Het
Celsr1	T	A	15: 85,926,222	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,992,033	L261H	probably damaging	Het
Cep57	G	A	9: 13,818,868	H98Y	probably damaging	Het
Chrna7	A	T	7: 63,106,057	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,778,030	M374L	probably damaging	Het
Cyp4f13	T	C	17: 32,925,821	D372G	probably damaging	Het
Dazl	C	A	17: 50,281,283	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,328	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,334,208	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,242,687	H838Q	probably damaging	Het
Erich3	A	T	3: 154,763,580	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,986,508	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,869,968	M1T	probably null	Het
Glb1l2	C	T	9: 26,796,866		probably benign	Het
Gnl2	A	G	4: 125,052,840	K618R	probably benign	Het
Greb1	A	T	12: 16,716,759	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,873,792	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927	S23P	possibly damaging	Het
Htr6	G	T	4: 139,061,666	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,648,804	F447L	probably benign	Het
Kansl1	T	C	11: 104,424,858	Y118C	possibly damaging	Het
Khk	G	A	5: 30,927,029	V118M	probably benign	Het
Klra17	T	A	6: 129,868,708	K181M	probably damaging	Het
Lbh	T	C	17: 72,921,292		probably null	Het
Lmo2	T	C	2: 103,976,100	I108T	probably damaging	Het
Mgat5	T	A	1: 127,387,514		probably null	Het
Mink1	T	C	11: 70,607,343	V525A	probably benign	Het
Myo10	C	A	15: 25,778,078		probably null	Het
Nlrp2	T	C	7: 5,325,008	N682S	probably benign	Het
Nr2e3	G	A	9: 59,949,334		probably benign	Het
Olfr1415	T	C	1: 92,491,036	T240A	probably damaging	Het
Olfr467	T	C	7: 107,814,964	C129R	probably damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pfas	G	A	11: 68,988,021	S1319F	probably damaging	Het
Phf3	T	C	1: 30,803,806	K2024R	probably damaging	Het
Pld4	G	A	12: 112,768,612	C501Y	probably damaging	Het
Psg16	C	T	7: 17,090,635	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,942,373		probably null	Het
Rimkla	C	A	4: 119,477,852	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,327	E113G	probably damaging	Het
Rspry1	C	T	8: 94,623,185	T67I	probably benign	Het
Skint6	C	A	4: 113,184,768	E292*	probably null	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,374	M170T	probably benign	Het
Slc15a5	T	C	6: 138,073,036	N127S	probably benign	Het
Sugct	A	T	13: 17,252,560	C338*	probably null	Het
Tbk1	A	T	10: 121,556,051	M486K	probably benign	Het
Terf1	A	T	1: 15,805,685	E3V	probably damaging	Het
Thoc5	T	A	11: 4,910,648	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,562,099		probably benign	Het
Tmem57	T	C	4: 134,837,019		probably benign	Het
Tmtc1	T	A	6: 148,355,412		probably benign	Het
Zfp322a	A	T	13: 23,357,362	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,613,918	H111Q	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
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
R6562:Slc39a10	UTSW	1	46835564	missense	probably benign	0.02
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'- TCTCTCCAAGGCCCAAGTTTG -3'
(R):5'- AGTAGTCCTATGTCCTGAGAAGTTTG -3'

Sequencing Primer
(F):5'- CTCCAAGGCCCAAGTTTGTTAAAAG -3'
(R):5'- GGGGCTATTTTTCATAGAGGATATTG -3'

Posted On

2016-07-22