Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:Slc25a45'

654072

Institutional Source

Beutler Lab

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5877808-5885766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5880107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 35 (T35M)

Ref Sequence

ENSEMBL: ENSMUSP00000025732 (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 benign
Transcript: ENSMUST00000025732
AA Change: T35M

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: T35M

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 benign
Transcript: ENSMUST00000125114
AA Change: T35M

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: T35M

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 benign
Transcript: ENSMUST00000136833
AA Change: T35M

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: T35M

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
AA Change: T34M

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 benign
Transcript: ENSMUST00000155697
AA Change: T35M

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: T35M

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

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	probably damaging	Het

Other mutations in Slc25a45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Slc25a45	APN	19	5884609	splice site	probably null
IGL02620:Slc25a45	APN	19	5884526	missense	probably damaging	1.00
IGL02622:Slc25a45	APN	19	5878697	splice site	probably benign
R0055:Slc25a45	UTSW	19	5880467	missense	probably damaging	1.00
R0055:Slc25a45	UTSW	19	5880467	missense	probably damaging	1.00
R0630:Slc25a45	UTSW	19	5880528	missense	probably damaging	1.00
R1464:Slc25a45	UTSW	19	5879900	splice site	probably benign
R1764:Slc25a45	UTSW	19	5884930	missense	probably damaging	1.00
R1902:Slc25a45	UTSW	19	5884522	missense	probably damaging	1.00
R2372:Slc25a45	UTSW	19	5884552	missense	probably benign	0.00
R3547:Slc25a45	UTSW	19	5884546	missense	probably damaging	1.00
R3889:Slc25a45	UTSW	19	5880633	splice site	probably benign
R4173:Slc25a45	UTSW	19	5880583	nonsense	probably null
R4222:Slc25a45	UTSW	19	5880118	missense	probably damaging	1.00
R4223:Slc25a45	UTSW	19	5880118	missense	probably damaging	1.00
R4225:Slc25a45	UTSW	19	5880118	missense	probably damaging	1.00
R4598:Slc25a45	UTSW	19	5884436	missense	probably damaging	1.00
R4998:Slc25a45	UTSW	19	5884917	missense	probably damaging	1.00
R5063:Slc25a45	UTSW	19	5884462	missense	possibly damaging	0.89
R5711:Slc25a45	UTSW	19	5884423	missense	probably benign
R6693:Slc25a45	UTSW	19	5880134	missense	possibly damaging	0.63
R7486:Slc25a45	UTSW	19	5884969	missense	probably damaging	0.96
R9415:Slc25a45	UTSW	19	5884939	missense	probably damaging	1.00
Z1177:Slc25a45	UTSW	19	5880179	missense	unknown
Z1177:Slc25a45	UTSW	19	5884432	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGAGTGTAGCAAAGGCACC -3'
(R):5'- GTCACCACTTTTGAGGCACTAG -3'

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

Posted On

2020-10-20