Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Slc39a10'

207197

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

039857-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

R1830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46846704-46932012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46875230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 24 (H24R)

Ref Sequence

ENSEMBL: ENSMUSP00000027131 (fasta)

Gene Model

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

AlphaFold

Q6P5F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027131
AA Change: H24R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: H24R

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

possibly damaging
Transcript: ENSMUST00000185520
AA Change: H34R

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140570
Gene: ENSMUSG00000025986
AA Change: H34R

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: H24R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140176
Gene: ENSMUSG00000025986
AA Change: H24R

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,350 (GRCm39)	S738P	probably benign	Het
Abi3bp	C	A	16: 56,408,348 (GRCm39)	P261Q	probably damaging	Het
Adam19	A	G	11: 46,018,105 (GRCm39)	N389S	probably damaging	Het
Adgrv1	A	T	13: 81,637,196 (GRCm39)	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,017,432 (GRCm39)	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,619,383 (GRCm39)	V734M	probably damaging	Het
Arsg	T	C	11: 109,454,100 (GRCm39)		probably null	Het
Atp8b4	C	T	2: 126,245,301 (GRCm39)	G283R	probably benign	Het
B3galnt2	T	G	13: 14,166,119 (GRCm39)	L338*	probably null	Het
Cdc14a	A	T	3: 116,216,296 (GRCm39)	Y1*	probably null	Het
Ceacam16	T	C	7: 19,592,803 (GRCm39)	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,220,323 (GRCm39)	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,223,274 (GRCm39)	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,579,469 (GRCm39)	V1919F	probably damaging	Het
Colgalt1	T	C	8: 72,075,781 (GRCm39)	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,727 (GRCm39)	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,089,846 (GRCm39)	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 126,884,952 (GRCm39)	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,248,378 (GRCm39)	M94T	probably benign	Het
Dip2a	A	G	10: 76,153,797 (GRCm39)	S178P	probably damaging	Het
Dlec1	T	C	9: 118,967,858 (GRCm39)	V1220A	probably benign	Het
Dpysl2	T	C	14: 67,105,840 (GRCm39)		probably benign	Het
E2f6	T	C	12: 16,868,884 (GRCm39)	V69A	probably benign	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	T	C	1: 71,663,418 (GRCm39)	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481 (GRCm39)	V83M	probably damaging	Het
Gfral	T	C	9: 76,100,485 (GRCm39)	N318D	probably benign	Het
Gm5611	A	T	9: 16,942,073 (GRCm39)		noncoding transcript	Het
Gpat3	A	T	5: 101,041,046 (GRCm39)	M369L	probably benign	Het
Grik5	T	C	7: 24,745,726 (GRCm39)	D449G	possibly damaging	Het
Gucy2g	T	A	19: 55,211,362 (GRCm39)	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,352,434 (GRCm39)	T164A	probably benign	Het
Herc1	T	A	9: 66,404,881 (GRCm39)	C4484S	possibly damaging	Het
Hira	T	C	16: 18,766,164 (GRCm39)	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,194,307 (GRCm39)	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,593,866 (GRCm39)	S141P	probably damaging	Het
Kank1	C	A	19: 25,388,396 (GRCm39)	Q690K	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kifbp	T	C	10: 62,395,106 (GRCm39)	Y512C	probably damaging	Het
Lepr	A	C	4: 101,592,874 (GRCm39)	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,607,922 (GRCm39)	I29V	probably benign	Het
Lrriq1	T	G	10: 102,997,620 (GRCm39)	T1332P	probably benign	Het
Mrps15	A	G	4: 125,949,200 (GRCm39)	K223E	probably damaging	Het
Mrps7	T	A	11: 115,497,811 (GRCm39)	N225K	probably benign	Het
Nav3	T	A	10: 109,659,184 (GRCm39)	D811V	probably damaging	Het
Ndst3	T	A	3: 123,342,587 (GRCm39)	R741S	probably damaging	Het
Nos3	T	C	5: 24,575,131 (GRCm39)	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,686,444 (GRCm39)	V188A	probably damaging	Het
Or13n4	T	C	7: 106,423,317 (GRCm39)	R139G	probably benign	Het
Or5p50	T	A	7: 107,422,578 (GRCm39)	I33F	probably benign	Het
Or8j3b	T	C	2: 86,205,487 (GRCm39)	K90E	possibly damaging	Het
Pdia4	A	T	6: 47,773,695 (GRCm39)	C551*	probably null	Het
Pex13	A	G	11: 23,605,513 (GRCm39)	F239S	probably damaging	Het
Pigq	A	G	17: 26,153,980 (GRCm39)	M273T	probably benign	Het
Plppr2	C	T	9: 21,859,047 (GRCm39)	P388L	probably damaging	Het
Polr3b	C	T	10: 84,528,786 (GRCm39)	Q737*	probably null	Het
Ppfibp1	T	C	6: 146,923,757 (GRCm39)		probably null	Het
Ppfibp2	C	A	7: 107,236,504 (GRCm39)	D17E	probably damaging	Het
Pramel34	A	T	5: 93,785,545 (GRCm39)	I245K	probably benign	Het
Prr35	T	C	17: 26,165,691 (GRCm39)	D532G	possibly damaging	Het
Ptpn13	A	G	5: 103,691,325 (GRCm39)	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,692,018 (GRCm39)	S168T	probably damaging	Het
Rbp3	T	C	14: 33,676,601 (GRCm39)	V183A	probably benign	Het
Shprh	T	C	10: 11,062,655 (GRCm39)		probably null	Het
Slc7a13	A	T	4: 19,819,046 (GRCm39)	H82L	probably benign	Het
Sptbn2	A	G	19: 4,782,569 (GRCm39)	I502V	probably benign	Het
Syne2	C	T	12: 76,156,636 (GRCm39)	R6811C	probably damaging	Het
Syt12	A	G	19: 4,506,911 (GRCm39)	V78A	probably benign	Het
Tbck	T	A	3: 132,543,772 (GRCm39)	D874E	probably benign	Het
Tesc	A	T	5: 118,184,394 (GRCm39)	I25L	probably damaging	Het
Thoc5	T	G	11: 4,864,608 (GRCm39)	D351E	probably benign	Het
Tor1aip1	A	T	1: 155,883,308 (GRCm39)	M180K	probably damaging	Het
Trps1	T	C	15: 50,524,532 (GRCm39)	S842G	probably damaging	Het
Unc79	A	T	12: 103,100,737 (GRCm39)	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,403,561 (GRCm39)	T144A	probably benign	Het
Vwa8	T	C	14: 79,318,576 (GRCm39)	F1046S	probably benign	Het
Wdr26	A	T	1: 181,019,340 (GRCm39)	W346R	probably damaging	Het
Zfp740	T	A	15: 102,116,336 (GRCm39)	V22E	probably damaging	Het
Zw10	C	A	9: 48,981,041 (GRCm39)	S480R	probably damaging	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
R1568:Slc39a10	UTSW	1	46,865,375 (GRCm39)	missense	probably benign	0.00
R1664:Slc39a10	UTSW	1	46,865,269 (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'- GTCCTCGTGATTAATCTCAACGAC -3'
(R):5'- ACTTGGTTAATGGATTGGCAATTGC -3'

Sequencing Primer
(F):5'- AACGACTTTGATCTCTCCAAGG -3'
(R):5'- ATGGATTGGCAATTGCAAAATAAG -3'

Posted On

2014-06-23