Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Slc25a40'

278432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a40

Ensembl Gene

ENSMUSG00000054099

Gene Name

solute carrier family 25, member 40

Synonyms

B230315F11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

8472850-8504797 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to C at 8503298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tyrosine at position 338 (*338Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727]

AlphaFold

Q8BGP6

Predicted Effect

probably null
Transcript: ENSMUST00000066921
AA Change: *338Y

SMART Domains

Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: *338Y

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	13	137	1.5e-24	PFAM
Pfam:Mito_carr	139	229	4.6e-20	PFAM
Pfam:Mito_carr	232	333	3.1e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170496
AA Change: *338Y

SMART Domains

Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: *338Y

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	13	137	5.8e-24	PFAM
Pfam:Mito_carr	141	229	1.4e-17	PFAM
Pfam:Mito_carr	232	333	2.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196727

SMART Domains

Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	13	80	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198119

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and overtly normal in a battery of physiological, metabolic, and behavioral assays. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het

Other mutations in Slc25a40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01418:Slc25a40	APN	5	8,503,298 (GRCm39)	makesense	probably null
IGL02604:Slc25a40	APN	5	8,503,219 (GRCm39)	missense	probably benign
IGL03371:Slc25a40	APN	5	8,477,442 (GRCm39)	missense	probably benign	0.01
PIT4494001:Slc25a40	UTSW	5	8,490,737 (GRCm39)	missense	probably damaging	1.00
R0443:Slc25a40	UTSW	5	8,497,348 (GRCm39)	missense	probably benign	0.05
R1051:Slc25a40	UTSW	5	8,480,450 (GRCm39)	missense	probably benign
R1707:Slc25a40	UTSW	5	8,490,793 (GRCm39)	splice site	probably null
R1861:Slc25a40	UTSW	5	8,492,431 (GRCm39)	splice site	probably null
R2117:Slc25a40	UTSW	5	8,480,417 (GRCm39)	missense	probably damaging	1.00
R2135:Slc25a40	UTSW	5	8,477,489 (GRCm39)	missense	possibly damaging	0.78
R2567:Slc25a40	UTSW	5	8,480,459 (GRCm39)	missense	probably damaging	1.00
R2908:Slc25a40	UTSW	5	8,477,505 (GRCm39)	missense	probably damaging	1.00
R5140:Slc25a40	UTSW	5	8,480,486 (GRCm39)	missense	probably damaging	0.96
R5269:Slc25a40	UTSW	5	8,497,409 (GRCm39)	critical splice donor site	probably null
R6665:Slc25a40	UTSW	5	8,502,788 (GRCm39)	missense	probably benign	0.01
R7884:Slc25a40	UTSW	5	8,492,509 (GRCm39)	missense	probably damaging	1.00
R7996:Slc25a40	UTSW	5	8,493,653 (GRCm39)	missense	probably damaging	1.00
R9100:Slc25a40	UTSW	5	8,499,613 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16