Mutagenetix > Incidental Mutation

Incidental Mutation 'R0443:Slc25a40'

39266

Institutional Source

Beutler Lab

Gene Symbol

Slc25a40

Ensembl Gene

ENSMUSG00000054099

Gene Name

solute carrier family 25, member 40

Synonyms

B230315F11Rik

MMRRC Submission

038644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0443 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

8472850-8504797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8497348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 229 (S229T)

Ref Sequence

ENSEMBL: ENSMUSP00000130630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727] [ENSMUST00000198792]

AlphaFold

Q8BGP6

Predicted Effect

probably benign
Transcript: ENSMUST00000066921
AA Change: S229T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: S229T

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 benign
Transcript: ENSMUST00000170496
AA Change: S229T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: S229T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198792

SMART Domains

Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	13	129	2e-22	PFAM

Meta Mutation Damage Score

0.1081

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 95.6%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	G	T	5: 26,053,409 (GRCm39)	R246L	probably damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Caskin1	C	T	17: 24,724,374 (GRCm39)	A1054V	probably damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Ccn2	T	C	10: 24,471,701 (GRCm39)		probably benign	Het
Cnot6l	T	G	5: 96,239,604 (GRCm39)		probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cux2	C	T	5: 122,025,500 (GRCm39)	R56H	possibly damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Epg5	T	C	18: 77,999,118 (GRCm39)		probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Gapvd1	A	G	2: 34,594,633 (GRCm39)		probably benign	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gsdma2	C	T	11: 98,548,514 (GRCm39)	T255I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Ms4a6b	A	G	19: 11,499,044 (GRCm39)	I53V	possibly damaging	Het
Mtf1	C	T	4: 124,718,075 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nop9	A	G	14: 55,991,205 (GRCm39)	S621G	probably benign	Het
Or1e19	A	G	11: 73,316,581 (GRCm39)	V76A	probably damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Or9a2	T	A	6: 41,748,829 (GRCm39)	I135F	possibly damaging	Het
Pacs1	A	T	19: 5,322,611 (GRCm39)	Y102*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Pih1d2	A	G	9: 50,532,403 (GRCm39)	R170G	possibly damaging	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Pknox1	A	G	17: 31,811,193 (GRCm39)	S156G	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Ro60	A	G	1: 143,641,661 (GRCm39)		probably benign	Het
Slc43a2	T	C	11: 75,435,493 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tonsl	T	C	15: 76,523,884 (GRCm39)	S39G	probably benign	Het
Trpc2	A	G	7: 101,742,727 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Uvssa	A	G	5: 33,546,168 (GRCm39)	R180G	possibly damaging	Het
Vmn1r197	T	A	13: 22,512,241 (GRCm39)	I54K	possibly damaging	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Zbtb49	T	C	5: 38,358,174 (GRCm39)	E693G	probably benign	Het

Other mutations in Slc25a40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Slc25a40	APN	5	8,503,298 (GRCm39)	makesense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTCGAATCAAGACTAGAGTTCCTG -3'
(R):5'- TGCCAAAGCAGTAGTGAGATGAATCTG -3'

Sequencing Primer
(F):5'- ATCAAGACTAGAGTTCCTGATTCCC -3'
(R):5'- TTTTTCAAGAGCCACAGGAACAG -3'

Posted On

2013-05-23