Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Slc25a35'

410908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a35

Ensembl Gene

ENSMUSG00000018740

Gene Name

solute carrier family 25, member 35

Synonyms

1810012H11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

68858954-68863342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68859678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 64 (K64E)

Ref Sequence

ENSEMBL: ENSMUSP00000099666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000102606]

AlphaFold

Q5SWT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018884
AA Change: K64E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740
AA Change: K64E

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	90	4.5e-20	PFAM
Pfam:Mito_carr	98	193	2.2e-16	PFAM
Pfam:Mito_carr	197	295	6.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038644

SMART Domains

Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

Domain	Start	End	E-Value	Type
Pfam:Mog1	7	145	1.3e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102606
AA Change: K64E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099666
Gene: ENSMUSG00000018740
AA Change: K64E

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	92	7.9e-17	PFAM
Pfam:Mito_carr	98	197	1.2e-16	PFAM
Pfam:Mito_carr	202	299	8.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156178

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A35 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,294,519 (GRCm39)	D360G	probably damaging	Het
Adam6a	A	T	12: 113,509,144 (GRCm39)	T506S	probably damaging	Het
Adamts15	A	G	9: 30,832,863 (GRCm39)	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,885,866 (GRCm39)	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ccdc85c	G	A	12: 108,173,395 (GRCm39)	R387*	probably null	Het
Cfap57	T	A	4: 118,456,216 (GRCm39)	I493F	probably damaging	Het
Chst9	A	G	18: 15,586,035 (GRCm39)	I176T	probably damaging	Het
Clpx	G	T	9: 65,234,112 (GRCm39)	V572L	probably benign	Het
Csmd3	T	A	15: 47,744,873 (GRCm39)	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,350,134 (GRCm39)	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,770,061 (GRCm39)	E414G	probably benign	Het
Ehd1	T	C	19: 6,327,368 (GRCm39)	F122L	probably damaging	Het
Fcho1	A	G	8: 72,170,074 (GRCm39)		probably benign	Het
Fermt3	T	C	19: 6,980,631 (GRCm39)	E312G	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,214,399 (GRCm39)	R132C	probably damaging	Het
Inpp4b	A	T	8: 82,470,410 (GRCm39)	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,033,276 (GRCm39)	I107L	probably damaging	Het
Lama3	C	A	18: 12,660,681 (GRCm39)	Q484K	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,828,955 (GRCm39)		probably benign	Het
Mast4	T	C	13: 102,874,163 (GRCm39)	N1735S	probably benign	Het
Or14a257	T	C	7: 86,138,402 (GRCm39)	D119G	probably damaging	Het
Or4c100	T	A	2: 88,356,488 (GRCm39)	M187K	possibly damaging	Het
Oxct1	T	C	15: 4,130,630 (GRCm39)	L374P	probably damaging	Het
Parp14	G	A	16: 35,678,823 (GRCm39)	Q382*	probably null	Het
Pax2	A	G	19: 44,821,714 (GRCm39)		probably benign	Het
Prkaa1	T	C	15: 5,198,122 (GRCm39)	V146A	probably damaging	Het
Ptprb	C	T	10: 116,164,032 (GRCm39)	A900V	probably benign	Het
Rgs6	A	T	12: 83,099,312 (GRCm39)	D130V	probably damaging	Het
Ryr1	C	A	7: 28,793,457 (GRCm39)	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,033,969 (GRCm39)	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,311,585 (GRCm39)	E633D	probably benign	Het
Slc1a7	T	A	4: 107,850,189 (GRCm39)	I100N	probably damaging	Het
Spmip4	A	T	6: 50,550,853 (GRCm39)	V532E	probably damaging	Het
Stil	C	A	4: 114,881,612 (GRCm39)	Q719K	probably damaging	Het
Stim1	T	A	7: 102,070,562 (GRCm39)	L265Q	probably damaging	Het
Tmem191	A	G	16: 17,095,246 (GRCm39)	E169G	probably damaging	Het
Tmem255b	T	C	8: 13,504,174 (GRCm39)	L101P	probably damaging	Het
Trgv3	C	A	13: 19,427,337 (GRCm39)	Y73*	probably null	Het
Zfyve26	G	A	12: 79,330,846 (GRCm39)	Q458*	probably null	Het

Other mutations in Slc25a35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03105:Slc25a35	APN	11	68,859,496 (GRCm39)	missense	probably damaging	1.00
R0131:Slc25a35	UTSW	11	68,862,786 (GRCm39)	missense	probably damaging	1.00
R0131:Slc25a35	UTSW	11	68,862,786 (GRCm39)	missense	probably damaging	1.00
R0132:Slc25a35	UTSW	11	68,862,786 (GRCm39)	missense	probably damaging	1.00
R2130:Slc25a35	UTSW	11	68,859,791 (GRCm39)	missense	possibly damaging	0.88
R6425:Slc25a35	UTSW	11	68,859,591 (GRCm39)	missense	possibly damaging	0.88
R8119:Slc25a35	UTSW	11	68,862,798 (GRCm39)	missense	probably benign	0.01
R9347:Slc25a35	UTSW	11	68,862,076 (GRCm39)	missense	probably benign

Posted On

2016-08-02