Mutagenetix > Incidental Mutation

Incidental Mutation 'R1744:Slc25a30'

200604

Institutional Source

Beutler Lab

Gene Symbol

Slc25a30

Ensembl Gene

ENSMUSG00000022003

Gene Name

solute carrier family 25, member 30

Synonyms

KMCP1, 4933433D23Rik

MMRRC Submission

039776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75997557-76024477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76000770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 278 (I278T)

Ref Sequence

ENSEMBL: ENSMUSP00000022580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022580]

AlphaFold

Q9CR58

Predicted Effect

probably damaging
Transcript: ENSMUST00000022580
AA Change: I278T

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

SMART Domains

Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: I278T

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	100	1.2e-22	PFAM
Pfam:Mito_carr	102	194	3.2e-22	PFAM
Pfam:Mito_carr	197	290	7.4e-25	PFAM

Meta Mutation Damage Score

0.1695

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,942,267 (GRCm39)	E1247G	probably damaging	Het
Bcl2l15	T	A	3: 103,745,856 (GRCm39)	L165Q	probably damaging	Het
Cd163	C	A	6: 124,283,987 (GRCm39)	A53E	possibly damaging	Het
Cemip2	C	A	19: 21,809,501 (GRCm39)	Y960*	probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clca3a1	G	T	3: 144,452,596 (GRCm39)	A629D	probably damaging	Het
Csde1	T	A	3: 102,957,631 (GRCm39)	S463R	probably benign	Het
Cth	C	G	3: 157,611,905 (GRCm39)	R304P	probably damaging	Het
D7Ertd443e	A	G	7: 133,951,142 (GRCm39)	V177A	probably benign	Het
Ddx56	G	A	11: 6,216,396 (GRCm39)	R189W	probably damaging	Het
Dennd2a	A	T	6: 39,457,185 (GRCm39)	F752L	probably benign	Het
Gabrp	A	T	11: 33,522,462 (GRCm39)	V28E	probably benign	Het
Gpam	T	C	19: 55,063,023 (GRCm39)	E763G	probably damaging	Het
Hars1	G	A	18: 36,903,885 (GRCm39)	R266C	probably benign	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2d	T	C	15: 98,762,928 (GRCm39)	K281E	probably damaging	Het
Lbx1	T	C	19: 45,222,652 (GRCm39)	K124E	probably damaging	Het
Lcp2	T	C	11: 34,019,911 (GRCm39)		probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	A	T	4: 123,369,646 (GRCm39)	I140K	probably damaging	Het
Mcemp1	G	A	8: 3,716,054 (GRCm39)	A20T	probably damaging	Het
Met	T	C	6: 17,540,645 (GRCm39)	V137A	possibly damaging	Het
Mgat5	T	C	1: 127,407,206 (GRCm39)	F624S	probably damaging	Het
Nutm2	T	C	13: 50,623,390 (GRCm39)	I29T	probably benign	Het
Ociad1	T	C	5: 73,458,062 (GRCm39)		probably null	Het
Ogfod2	G	A	5: 124,252,219 (GRCm39)		probably null	Het
Or6c69	A	C	10: 129,747,262 (GRCm39)	V295G	probably damaging	Het
Or8g4	A	C	9: 39,661,711 (GRCm39)	T10P	probably benign	Het
Otoa	G	A	7: 120,726,999 (GRCm39)		probably benign	Het
Otud3	A	C	4: 138,623,059 (GRCm39)	L394R	probably damaging	Het
Pde5a	T	C	3: 122,541,546 (GRCm39)	V12A	probably damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prr27	A	G	5: 87,990,906 (GRCm39)	I173V	possibly damaging	Het
Psg29	T	C	7: 16,944,278 (GRCm39)	C263R	probably damaging	Het
Ptprm	T	C	17: 66,996,361 (GRCm39)	Y1242C	probably damaging	Het
Retsat	C	T	6: 72,583,558 (GRCm39)	R84*	probably null	Het
Rif1	G	A	2: 52,002,404 (GRCm39)	V1953I	possibly damaging	Het
Ros1	A	T	10: 51,999,475 (GRCm39)	N1137K	probably damaging	Het
Scn1a	T	C	2: 66,152,620 (GRCm39)	H787R	probably benign	Het
Sec16a	T	C	2: 26,329,198 (GRCm39)	E939G	probably damaging	Het
Sh2d4a	G	A	8: 68,783,807 (GRCm39)	G247D	possibly damaging	Het
Siglec1	A	G	2: 130,923,219 (GRCm39)	S509P	probably damaging	Het
Slc6a20a	C	T	9: 123,492,058 (GRCm39)	V104I	probably benign	Het
Sp110	G	C	1: 85,522,093 (GRCm39)	T70S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stxbp1	A	G	2: 32,696,731 (GRCm39)		probably null	Het
Tmem132b	T	C	5: 125,855,908 (GRCm39)		probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc6a	A	G	7: 19,248,154 (GRCm39)	E38G	probably damaging	Het
Trps1	T	C	15: 50,524,609 (GRCm39)	D857G	probably damaging	Het
Tspear	T	A	10: 77,700,718 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,902,910 (GRCm39)	N289K	possibly damaging	Het
Zcchc8	G	A	5: 123,838,436 (GRCm39)	Q701*	probably null	Het
Zfp618	A	T	4: 63,004,871 (GRCm39)		probably benign	Het

Other mutations in Slc25a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Slc25a30	APN	14	76,004,365 (GRCm39)	missense	possibly damaging	0.90
IGL00922:Slc25a30	APN	14	76,007,038 (GRCm39)	missense	probably damaging	1.00
IGL01310:Slc25a30	APN	14	76,007,037 (GRCm39)	missense	probably damaging	1.00
IGL02135:Slc25a30	APN	14	76,004,435 (GRCm39)	missense	probably benign	0.00
IGL02573:Slc25a30	APN	14	76,007,108 (GRCm39)	splice site	probably benign
R0044:Slc25a30	UTSW	14	76,007,089 (GRCm39)	missense	probably benign	0.37
R0330:Slc25a30	UTSW	14	76,000,112 (GRCm39)	nonsense	probably null
R1743:Slc25a30	UTSW	14	76,012,523 (GRCm39)	missense	probably benign	0.01
R1950:Slc25a30	UTSW	14	76,007,007 (GRCm39)	missense	possibly damaging	0.55
R2122:Slc25a30	UTSW	14	76,007,658 (GRCm39)	missense	possibly damaging	0.90
R2880:Slc25a30	UTSW	14	76,007,651 (GRCm39)	missense	probably benign	0.05
R4791:Slc25a30	UTSW	14	76,000,806 (GRCm39)	missense	probably benign	0.00
R5158:Slc25a30	UTSW	14	76,008,956 (GRCm39)	missense	probably damaging	1.00
R5198:Slc25a30	UTSW	14	76,007,056 (GRCm39)	missense	probably benign	0.03
R5505:Slc25a30	UTSW	14	76,000,789 (GRCm39)	missense	probably damaging	1.00
R6485:Slc25a30	UTSW	14	76,012,447 (GRCm39)	missense	probably damaging	1.00
R8393:Slc25a30	UTSW	14	76,012,451 (GRCm39)	missense	probably benign	0.04
R8859:Slc25a30	UTSW	14	76,008,917 (GRCm39)	missense	probably benign	0.42
X0027:Slc25a30	UTSW	14	76,004,413 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TTGAATGAGGAGACCTCACAGGGC -3'
(R):5'- GCATTTGACATAACTGGAAAATGGGGC -3'

Sequencing Primer
(F):5'- ACCTCACAGGGCCTAGAGATG -3'
(R):5'- ataaaacccaggaccaccag -3'

Posted On

2014-05-23