Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Slc30a10'

699895

Institutional Source

Beutler Lab

Gene Symbol

Slc30a10

Ensembl Gene

ENSMUSG00000026614

Gene Name

solute carrier family 30, member 10

Synonyms

E130106K10Rik

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

185187045-185200959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 185187391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 44 (M44K)

Ref Sequence

ENSEMBL: ENSMUSP00000053181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061093]

AlphaFold

Q3UVU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061093
AA Change: M44K

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

SMART Domains

Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: M44K

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	11	299	2e-44	PFAM

Meta Mutation Damage Score

0.9601

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit post-weaning growth defects, increased manganese levels in the brain, blood, liver and thyroid gland, severe hypothyroidism and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,271,974 (GRCm39)	V1595I	probably benign	Het
Anxa6	A	G	11: 54,898,694 (GRCm39)	V160A	probably benign	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,499,750 (GRCm39)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm39)	M300L	probably benign	Het
C1ra	T	C	6: 124,493,739 (GRCm39)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm39)	S777L	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fam186a	T	C	15: 99,853,384 (GRCm39)	T119A	unknown	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,502,564 (GRCm39)	H449R	probably benign	Het
Fyco1	A	T	9: 123,648,211 (GRCm39)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,111,998 (GRCm39)	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,027,906 (GRCm39)	I4K	probably damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Golga4	T	A	9: 118,385,941 (GRCm39)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,288,616 (GRCm39)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,322,357 (GRCm39)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,570,107 (GRCm39)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Lrig1	C	A	6: 94,607,113 (GRCm39)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,137,354 (GRCm39)	L175P	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nim1k	C	A	13: 120,174,118 (GRCm39)	V259F	probably damaging	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pcdha9	A	G	18: 37,131,954 (GRCm39)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Poglut1	A	T	16: 38,355,168 (GRCm39)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,534,078 (GRCm39)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,066,110 (GRCm39)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,664,498 (GRCm39)	T844A	probably benign	Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Rnf169	T	C	7: 99,574,699 (GRCm39)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Setd5	T	C	6: 113,098,755 (GRCm39)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Thy1	C	T	9: 43,958,004 (GRCm39)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,061,271 (GRCm39)	S324Y	probably benign	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,874,719 (GRCm39)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Uba7	T	C	9: 107,853,001 (GRCm39)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,795,599 (GRCm39)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,489,469 (GRCm39)	V247I	probably benign	Het
Vpreb1b	A	G	16: 17,798,801 (GRCm39)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,230,928 (GRCm39)	M87K	probably damaging	Het

Other mutations in Slc30a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Slc30a10	APN	1	185,187,616 (GRCm39)	missense	probably damaging	1.00
IGL01779:Slc30a10	APN	1	185,196,376 (GRCm39)	missense	possibly damaging	0.94
IGL01906:Slc30a10	APN	1	185,188,593 (GRCm39)	nonsense	probably null
IGL02024:Slc30a10	APN	1	185,187,438 (GRCm39)	missense	possibly damaging	0.94
R0111:Slc30a10	UTSW	1	185,187,744 (GRCm39)	missense	probably benign
R0133:Slc30a10	UTSW	1	185,187,370 (GRCm39)	missense	probably damaging	1.00
R1886:Slc30a10	UTSW	1	185,195,061 (GRCm39)	missense	probably damaging	1.00
R3915:Slc30a10	UTSW	1	185,187,333 (GRCm39)	nonsense	probably null
R5597:Slc30a10	UTSW	1	185,194,897 (GRCm39)	missense	probably damaging	1.00
R6175:Slc30a10	UTSW	1	185,187,508 (GRCm39)	missense	probably damaging	1.00
R6669:Slc30a10	UTSW	1	185,196,625 (GRCm39)	missense	probably benign
R8108:Slc30a10	UTSW	1	185,196,351 (GRCm39)	missense	possibly damaging	0.90
R8345:Slc30a10	UTSW	1	185,187,664 (GRCm39)	missense	probably benign	0.19
R9193:Slc30a10	UTSW	1	185,195,034 (GRCm39)	missense	probably damaging	1.00
R9228:Slc30a10	UTSW	1	185,187,391 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGCCAAATCAAGCTTGG -3'
(R):5'- CTCCACGAAGATGGTGAAGC -3'

Sequencing Primer
(F):5'- CAAATCAAGCTTGGGCGGC -3'
(R):5'- ATGGTGAAGCAGAGCGC -3'

Posted On

2022-02-07