Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Slc25a36'

90591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a36

Ensembl Gene

ENSMUSG00000032449

Gene Name

solute carrier family 25, member 36

Synonyms

C330005L02Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

97074961-97111157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97079233 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000035024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035024] [ENSMUST00000085206] [ENSMUST00000153070]

Predicted Effect

probably benign
Transcript: ENSMUST00000035024
AA Change: V111A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035024
Gene: ENSMUSG00000032449
AA Change: V111A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	69	1.1e-12	PFAM
Pfam:Mito_carr	83	172	2.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085206
AA Change: V250A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449
AA Change: V250A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	113	9.5e-27	PFAM
Pfam:Mito_carr	114	207	2.5e-23	PFAM
Pfam:Mito_carr	222	311	6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148995

Predicted Effect

probably benign
Transcript: ENSMUST00000153070

SMART Domains

Protein: ENSMUSP00000116813
Gene: ENSMUSG00000032449

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	113	5.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155291

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Slc25a36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Slc25a36	APN	9	97080481	missense	probably benign	0.00
IGL02149:Slc25a36	APN	9	97093069	splice site	probably benign
R0394:Slc25a36	UTSW	9	97080204	missense	probably benign	0.36
R0518:Slc25a36	UTSW	9	97097175	missense	probably damaging	1.00
R1024:Slc25a36	UTSW	9	97079201	missense	probably damaging	1.00
R1208:Slc25a36	UTSW	9	97085135	splice site	probably benign
R1439:Slc25a36	UTSW	9	97093073	splice site	probably benign
R1466:Slc25a36	UTSW	9	97080355	missense	probably damaging	1.00
R1466:Slc25a36	UTSW	9	97080355	missense	probably damaging	1.00
R1920:Slc25a36	UTSW	9	97093082	missense	probably benign	0.00
R2247:Slc25a36	UTSW	9	97100138	missense	probably damaging	1.00
R2317:Slc25a36	UTSW	9	97079182	missense	probably damaging	1.00
R2518:Slc25a36	UTSW	9	97079071	missense	possibly damaging	0.95
R3756:Slc25a36	UTSW	9	97100155	nonsense	probably null
R4405:Slc25a36	UTSW	9	97085118	missense	probably benign	0.00
R4624:Slc25a36	UTSW	9	97079125	missense	probably damaging	0.99
R4719:Slc25a36	UTSW	9	97090119	utr 3 prime	probably benign
R5492:Slc25a36	UTSW	9	97100206	missense	probably damaging	1.00
R6152:Slc25a36	UTSW	9	97100157	missense	probably damaging	1.00
R7823:Slc25a36	UTSW	9	97084391	critical splice donor site	probably null
R8139:Slc25a36	UTSW	9	97080452	missense	probably benign

Posted On

2013-12-09