Mutagenetix > Incidental Mutation

Incidental Mutation 'R4223:Slc25a45'

319491

Institutional Source

Beutler Lab

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

MMRRC Submission

041043-MU

Accession Numbers

Essential gene?

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

Stock #

R4223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5927828-5935796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5930146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 39 (I39F)

Ref Sequence

ENSEMBL: ENSMUSP00000121596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025728] [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155227] [ENSMUST00000155697]

AlphaFold

Q8CFJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000025728

SMART Domains

Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816

Domain	Start	End	E-Value	Type
B41	26	273	9.58e-4	SMART
low complexity region	383	398	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000025732
AA Change: I39F

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

SMART Domains

Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: I39F

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: I39F

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

SMART Domains

Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: I39F

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: I39F

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

SMART Domains

Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: I39F

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

Predicted Effect

unknown
Transcript: ENSMUST00000141362
AA Change: I38F

SMART Domains

Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
AA Change: I38F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145200

SMART Domains

Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818

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 benign
Transcript: ENSMUST00000155227

SMART Domains

Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
Pfam:FERM_M	136	202	9.6e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155697
AA Change: I39F

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

SMART Domains

Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: I39F

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

0.2545

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 78,930,286 (GRCm39)	Y43H	probably damaging	Het
Aamp	A	T	1: 74,320,285 (GRCm39)	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,863,722 (GRCm39)	L226M	probably damaging	Het
Acap1	A	G	11: 69,774,511 (GRCm39)	S396P	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atp1a3	T	C	7: 24,700,355 (GRCm39)	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Ccdc116	A	G	16: 16,964,809 (GRCm39)		probably benign	Het
Cmtm5	T	A	14: 55,175,376 (GRCm39)	C51S	probably damaging	Het
Cyb5rl	T	C	4: 106,938,185 (GRCm39)	V214A	probably damaging	Het
Cyp4x1	A	T	4: 114,970,077 (GRCm39)	I350N	probably damaging	Het
Efcab6	C	A	15: 83,751,309 (GRCm39)	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Epha3	G	A	16: 63,403,902 (GRCm39)	S733L	probably damaging	Het
Esyt1	T	C	10: 128,356,517 (GRCm39)	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,371,413 (GRCm39)	F4L	probably benign	Het
Glis1	T	C	4: 107,425,042 (GRCm39)	S218P	probably benign	Het
Gm15854	A	T	6: 129,949,426 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,361,236 (GRCm39)		noncoding transcript	Het
Inpp5a	T	C	7: 139,138,821 (GRCm39)	V263A	possibly damaging	Het
Itgb1	T	G	8: 129,440,624 (GRCm39)	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,257 (GRCm39)	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,836,610 (GRCm39)	L72F	probably damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,026,460 (GRCm39)	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,854,884 (GRCm39)	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,214,422 (GRCm39)		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Or4g7	A	T	2: 111,309,489 (GRCm39)	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,260,025 (GRCm39)	K61E	probably damaging	Het
Pak2	G	T	16: 31,871,028 (GRCm39)	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Pcolce	T	A	5: 137,603,389 (GRCm39)		probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Phf1	C	T	17: 27,156,474 (GRCm39)	R539*	probably null	Het
Plch1	G	A	3: 63,609,321 (GRCm39)	T48I	probably damaging	Het
Plekha2	A	G	8: 25,533,036 (GRCm39)	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,872,126 (GRCm39)	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rfc3	C	A	5: 151,574,637 (GRCm39)		probably benign	Het
Rpa2	T	G	4: 132,504,055 (GRCm39)	I69S	probably damaging	Het
Rtn4	G	A	11: 29,656,856 (GRCm39)	V337I	probably benign	Het
Rttn	T	C	18: 89,113,708 (GRCm39)	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,247,907 (GRCm39)	P548L	possibly damaging	Het
Slc12a2	T	A	18: 58,043,328 (GRCm39)	S591T	probably damaging	Het
Slc38a9	G	A	13: 112,850,782 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,286 (GRCm39)	V603A	probably damaging	Het
Snx19	T	G	9: 30,339,744 (GRCm39)	V294G	possibly damaging	Het
Sp140l2	T	C	1: 85,090,278 (GRCm39)	D83G	probably damaging	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Strn3	C	T	12: 51,674,638 (GRCm39)	R382Q	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Trps1	A	G	15: 50,710,044 (GRCm39)	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,368,148 (GRCm39)	M183L	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Xirp2	A	T	2: 67,346,837 (GRCm39)	E3026V	possibly damaging	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
R0630:Slc25a45	UTSW	19	5,930,556 (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
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'- GTGAGTGTAGCAAAGGCACC -3'
(R):5'- GTCACCACTTTTGAGGCACTAG -3'

Sequencing Primer
(F):5'- ATAGATGGTCTGGCTGGAACC -3'
(R):5'- CACTTTTGAGGCACTAGAGGACTC -3'

Posted On

2015-06-10