Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Slc25a45'

57894

Institutional Source

Beutler Lab

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

MMRRC Submission

038819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0630 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

5927828-5935796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5930556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 81 (L81P)

Ref Sequence

ENSEMBL: ENSMUSP00000121596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155697]

AlphaFold

Q8CFJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025732
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	1.2e-20	PFAM
Pfam:Mito_carr	95	195	6.9e-22	PFAM
Pfam:Mito_carr	197	288	7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125114
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	4.7e-22	PFAM
Pfam:Mito_carr	95	195	3.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136833
AA Change: L95P

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

SMART Domains

Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: L95P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	102	2.5e-20	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000141362

SMART Domains

Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	70	3.1e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145200
AA Change: L23P

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

SMART Domains

Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: L23P

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Mito_carr	37	137	5.1e-23	PFAM
Pfam:Mito_carr	139	195	4.1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155697
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	8.9e-22	PFAM
Pfam:Mito_carr	95	195	6.8e-23	PFAM
Pfam:Mito_carr	197	288	2.4e-23	PFAM

Meta Mutation Damage Score

0.5556

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	Het

Other mutations in Slc25a45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Slc25a45	APN	19	5,934,637 (GRCm39)	splice site	probably null
IGL02620:Slc25a45	APN	19	5,934,554 (GRCm39)	missense	probably damaging	1.00
IGL02622:Slc25a45	APN	19	5,928,725 (GRCm39)	splice site	probably benign
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R1464:Slc25a45	UTSW	19	5,929,928 (GRCm39)	splice site	probably benign
R1764:Slc25a45	UTSW	19	5,934,958 (GRCm39)	missense	probably damaging	1.00
R1902:Slc25a45	UTSW	19	5,934,550 (GRCm39)	missense	probably damaging	1.00
R2372:Slc25a45	UTSW	19	5,934,580 (GRCm39)	missense	probably benign	0.00
R3547:Slc25a45	UTSW	19	5,934,574 (GRCm39)	missense	probably damaging	1.00
R3889:Slc25a45	UTSW	19	5,930,661 (GRCm39)	splice site	probably benign
R4173:Slc25a45	UTSW	19	5,930,611 (GRCm39)	nonsense	probably null
R4222:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4223:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4225:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4598:Slc25a45	UTSW	19	5,934,464 (GRCm39)	missense	probably damaging	1.00
R4998:Slc25a45	UTSW	19	5,934,945 (GRCm39)	missense	probably damaging	1.00
R5063:Slc25a45	UTSW	19	5,934,490 (GRCm39)	missense	possibly damaging	0.89
R5711:Slc25a45	UTSW	19	5,934,451 (GRCm39)	missense	probably benign
R6693:Slc25a45	UTSW	19	5,930,162 (GRCm39)	missense	possibly damaging	0.63
R7486:Slc25a45	UTSW	19	5,934,997 (GRCm39)	missense	probably damaging	0.96
R8437:Slc25a45	UTSW	19	5,930,135 (GRCm39)	missense	probably benign	0.06
R9415:Slc25a45	UTSW	19	5,934,967 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc25a45	UTSW	19	5,934,460 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc25a45	UTSW	19	5,930,207 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCACATGCTGTCTGCCTGACAC -3'
(R):5'- TGGGAGCAACGTCTACAAGCAC -3'

Sequencing Primer
(F):5'- GAGGAAGTGCTCTACAGCTC -3'
(R):5'- GAAGACCTTCTTATGCACGGC -3'

Posted On

2013-07-11