Mutagenetix > Incidental Mutation

Incidental Mutation 'R2908:Slc25a40'

261102

Institutional Source

Beutler Lab

Gene Symbol

Slc25a40

Ensembl Gene

ENSMUSG00000054099

Gene Name

solute carrier family 25, member 40

Synonyms

B230315F11Rik

MMRRC Submission

040495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8472850-8504797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8477505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 30 (T30I)

Ref Sequence

ENSEMBL: ENSMUSP00000143045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002368] [ENSMUST00000066921] [ENSMUST00000168500] [ENSMUST00000170496] [ENSMUST00000171808] [ENSMUST00000198792] [ENSMUST00000196727]

AlphaFold

Q8BGP6

Predicted Effect

probably benign
Transcript: ENSMUST00000002368

SMART Domains

Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Blast:BRCT	44	181	9e-85	BLAST
low complexity region	182	204	N/A	INTRINSIC
ZnF_DBF	287	334	7.09e-28	SMART
low complexity region	643	657	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066921
AA Change: T30I

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

SMART Domains

Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: T30I

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

noncoding transcript
Transcript: ENSMUST00000166364

Predicted Effect

probably benign
Transcript: ENSMUST00000168500

SMART Domains

Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Pfam:BRCT	41	179	2e-7	PFAM
low complexity region	182	204	N/A	INTRINSIC
PDB:4F9C\|B	210	308	2e-42	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000170496
AA Change: T30I

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

SMART Domains

Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: T30I

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

noncoding transcript
Transcript: ENSMUST00000170927

Predicted Effect

probably benign
Transcript: ENSMUST00000171808

SMART Domains

Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297

Domain	Start	End	E-Value	Type
Blast:BRCT	44	181	9e-85	BLAST
low complexity region	182	204	N/A	INTRINSIC
ZnF_DBF	288	335	7.09e-28	SMART
low complexity region	644	658	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000198792
AA Change: T30I

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

SMART Domains

Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099
AA Change: T30I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196727
AA Change: T30I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099
AA Change: T30I

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: ENSMUST00000199817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198785

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,149,237 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,981,641 (GRCm39)	N516K	probably damaging	Het
Atp1a4	A	G	1: 172,062,044 (GRCm39)	Y694H	probably benign	Het
Bhlha9	T	C	11: 76,563,433 (GRCm39)	V20A	probably benign	Het
Ccl28	C	A	13: 120,112,398 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,051 (GRCm39)	I55V	probably benign	Het
Cit	C	A	5: 116,119,735 (GRCm39)	D1246E	probably benign	Het
Clp1	A	G	2: 84,554,488 (GRCm39)	V227A	possibly damaging	Het
Dhx29	T	C	13: 113,064,385 (GRCm39)	V20A	possibly damaging	Het
Lima1	C	T	15: 99,699,991 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,844,458 (GRCm39)	I1883V	probably benign	Het
Myh1	C	T	11: 67,111,522 (GRCm39)	Q1654*	probably null	Het
Or5d46	T	C	2: 88,170,827 (GRCm39)	I306T	probably benign	Het
Pbx3	G	T	2: 34,062,933 (GRCm39)	T422K	probably damaging	Het
Plekhg4	T	C	8: 106,107,493 (GRCm39)	L1008P	probably damaging	Het
Rbm26	T	A	14: 105,380,270 (GRCm39)	T516S	probably benign	Het
Spata31d1c	A	T	13: 65,181,005 (GRCm39)	I35F	possibly damaging	Het
Tmem18	A	T	12: 30,637,252 (GRCm39)	R78*	probably null	Het
Uggt2	C	T	14: 119,256,919 (GRCm39)	S1105N	probably benign	Het
Zfp53	C	A	17: 21,728,736 (GRCm39)	C256*	probably null	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
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
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'- TTGCACACTGGCTTCCATTTATAAC -3'
(R):5'- GTTTTCCTCATGCACACGTG -3'

Sequencing Primer
(F):5'- ATGTTAGGCAAGCACTCCTG -3'
(R):5'- GTGCACAAATAACAAACATGCATATG -3'

Posted On

2015-01-23