Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Slc39a10'

175389

Institutional Source

Beutler Lab

Gene Symbol

Slc39a10

Ensembl Gene

ENSMUSG00000025986

Gene Name

solute carrier family 39 (zinc transporter), member 10

Synonyms

2900042E17Rik, Zip10

MMRRC Submission

039607-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46846704-46932012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46865375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 487 (S487T)

Ref Sequence

ENSEMBL: ENSMUSP00000027131 (fasta)

Gene Model

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

AlphaFold

Q6P5F6

Predicted Effect

probably benign
Transcript: ENSMUST00000027131
AA Change: S487T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: S487T

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,137,799 (GRCm39)		probably null	Het
Adgb	A	T	10: 10,318,409 (GRCm39)	Y138*	probably null	Het
Adra1d	T	C	2: 131,388,092 (GRCm39)	R488G	possibly damaging	Het
Ahnak	G	A	19: 8,979,739 (GRCm39)	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,808,838 (GRCm39)	D690G	probably damaging	Het
Arhgef38	C	T	3: 132,838,225 (GRCm39)	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,857,155 (GRCm39)	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,167,314 (GRCm39)	H1062N	probably benign	Het
Bdnf	A	G	2: 109,554,139 (GRCm39)	H131R	probably damaging	Het
Cblb	C	T	16: 51,956,192 (GRCm39)	T265M	probably damaging	Het
Cenpe	T	A	3: 134,945,519 (GRCm39)	M1011K	probably benign	Het
Clca3a2	A	T	3: 144,781,410 (GRCm39)	Y711*	probably null	Het
Clca4a	A	G	3: 144,658,690 (GRCm39)	Y842H	probably benign	Het
Clspn	T	A	4: 126,475,310 (GRCm39)	M1021K	probably benign	Het
Cpne8	G	T	15: 90,503,845 (GRCm39)	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Dsp	T	C	13: 38,359,123 (GRCm39)	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553 (GRCm39)	K858R	probably null	Het
Fasn	A	T	11: 120,704,075 (GRCm39)	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,659,331 (GRCm39)	I322T	probably benign	Het
Gins2	T	C	8: 121,308,939 (GRCm39)	D105G	probably damaging	Het
Insr	A	T	8: 3,215,576 (GRCm39)	D975E	probably benign	Het
Klrc3	T	C	6: 129,616,510 (GRCm39)	D169G	probably benign	Het
Krt76	T	A	15: 101,793,443 (GRCm39)	S532C	unknown	Het
Lamp3	A	T	16: 19,492,275 (GRCm39)	M323K	probably damaging	Het
Lgmn	T	C	12: 102,360,868 (GRCm39)	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,508,538 (GRCm39)	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,063,373 (GRCm39)	I466N	probably damaging	Het
Magi3	A	C	3: 103,996,843 (GRCm39)	M234R	probably benign	Het
Myh14	G	A	7: 44,261,122 (GRCm39)	R1042*	probably null	Het
Nfia	T	G	4: 97,999,461 (GRCm39)	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,462,012 (GRCm39)	S383T	possibly damaging	Het
Or4f57	C	A	2: 111,790,585 (GRCm39)	V278F	probably benign	Het
Or52n4	T	A	7: 104,293,977 (GRCm39)	I199F	probably benign	Het
Or5b112	C	A	19: 13,319,539 (GRCm39)	P139Q	probably benign	Het
Or9s14	T	C	1: 92,535,676 (GRCm39)	L39P	probably damaging	Het
Osr1	G	A	12: 9,629,798 (GRCm39)		probably null	Het
Pde4b	A	C	4: 102,454,896 (GRCm39)	R375S	probably damaging	Het
Pde8a	A	G	7: 80,942,011 (GRCm39)	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,408,897 (GRCm39)		probably null	Het
Ppp3ca	A	G	3: 136,634,305 (GRCm39)	T422A	probably benign	Het
Proser1	T	C	3: 53,385,180 (GRCm39)	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,091,050 (GRCm39)	R127S	probably benign	Het
Sanbr	T	C	11: 23,539,971 (GRCm39)	K48E	probably damaging	Het
Sec22a	T	C	16: 35,167,998 (GRCm39)	D171G	probably benign	Het
Secisbp2	A	G	13: 51,827,143 (GRCm39)	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 33,158,895 (GRCm39)	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Spag6	A	G	2: 18,737,925 (GRCm39)	D265G	probably benign	Het
Spata31e2	T	C	1: 26,724,950 (GRCm39)	T77A	probably benign	Het
Sybu	G	T	15: 44,582,228 (GRCm39)	S132*	probably null	Het
Virma	T	C	4: 11,528,776 (GRCm39)	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 21,035,067 (GRCm39)	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358 (GRCm39)	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,289,010 (GRCm39)	V164I	probably benign	Het
Wfdc13	G	T	2: 164,528,854 (GRCm39)	A64S	probably damaging	Het
Zfp873	C	A	10: 81,896,113 (GRCm39)	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,040,843 (GRCm39)		probably null	Het

Other mutations in Slc39a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Slc39a10	APN	1	46,858,217 (GRCm39)	splice site	probably benign
IGL01628:Slc39a10	APN	1	46,874,683 (GRCm39)	missense	probably benign	0.23
IGL01939:Slc39a10	APN	1	46,871,895 (GRCm39)	missense	probably benign	0.07
IGL02068:Slc39a10	APN	1	46,858,599 (GRCm39)	splice site	probably benign
IGL02093:Slc39a10	APN	1	46,874,369 (GRCm39)	missense	probably damaging	1.00
IGL02101:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02122:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02125:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02171:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02175:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02186:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02699:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
IGL02700:Slc39a10	APN	1	46,857,288 (GRCm39)	missense	probably damaging	1.00
R0217:Slc39a10	UTSW	1	46,874,700 (GRCm39)	missense	probably benign
R0704:Slc39a10	UTSW	1	46,875,021 (GRCm39)	missense	possibly damaging	0.76
R0782:Slc39a10	UTSW	1	46,875,156 (GRCm39)	missense	probably damaging	0.97
R1527:Slc39a10	UTSW	1	46,858,422 (GRCm39)	missense	probably benign
R1566:Slc39a10	UTSW	1	46,875,245 (GRCm39)	missense	possibly damaging	0.90
R1664:Slc39a10	UTSW	1	46,865,269 (GRCm39)	missense	probably damaging	1.00
R1830:Slc39a10	UTSW	1	46,875,230 (GRCm39)	missense	probably damaging	1.00
R1954:Slc39a10	UTSW	1	46,874,334 (GRCm39)	missense	possibly damaging	0.50
R2327:Slc39a10	UTSW	1	46,875,156 (GRCm39)	missense	probably damaging	0.97
R3434:Slc39a10	UTSW	1	46,874,877 (GRCm39)	missense	probably benign
R3761:Slc39a10	UTSW	1	46,851,285 (GRCm39)	missense	possibly damaging	0.88
R4035:Slc39a10	UTSW	1	46,851,234 (GRCm39)	missense	probably damaging	1.00
R4419:Slc39a10	UTSW	1	46,849,226 (GRCm39)	missense	probably benign	0.42
R4675:Slc39a10	UTSW	1	46,857,144 (GRCm39)	intron	probably benign
R4689:Slc39a10	UTSW	1	46,875,173 (GRCm39)	missense	probably benign	0.00
R5310:Slc39a10	UTSW	1	46,875,285 (GRCm39)	missense	probably damaging	1.00
R6073:Slc39a10	UTSW	1	46,871,772 (GRCm39)	missense	possibly damaging	0.68
R6161:Slc39a10	UTSW	1	46,866,567 (GRCm39)	missense	probably damaging	1.00
R6199:Slc39a10	UTSW	1	46,874,993 (GRCm39)	missense	probably damaging	1.00
R6562:Slc39a10	UTSW	1	46,874,724 (GRCm39)	missense	probably benign	0.02
R7087:Slc39a10	UTSW	1	46,874,880 (GRCm39)	missense	probably damaging	1.00
R7222:Slc39a10	UTSW	1	46,858,452 (GRCm39)	missense	possibly damaging	0.82
R7286:Slc39a10	UTSW	1	46,849,230 (GRCm39)	missense	probably damaging	0.97
R7568:Slc39a10	UTSW	1	46,874,290 (GRCm39)	missense	probably benign	0.14
R7891:Slc39a10	UTSW	1	46,851,328 (GRCm39)	missense	probably damaging	1.00
R7918:Slc39a10	UTSW	1	46,874,912 (GRCm39)	missense	possibly damaging	0.88
R9725:Slc39a10	UTSW	1	46,849,223 (GRCm39)	missense	probably damaging	1.00
RF020:Slc39a10	UTSW	1	46,849,175 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAACAACCTTGTGAGCAGCACTTACT -3'
(R):5'- GCTCTGCATATAAGGGGACTGTAGGTA -3'

Sequencing Primer
(F):5'- GTGAGCAGCACTTACTCTTTG -3'
(R):5'- catgaaacccgataagtctgtataac -3'

Posted On

2014-04-24