Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01601:Slc25a39'

91775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a39

Ensembl Gene

ENSMUSG00000018677

Gene Name

solute carrier family 25, member 39

Synonyms

D11Ertd333e, 3010027G13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

IGL01601

Quality Score

Status

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102296544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000116336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000134669] [ENSMUST00000124755] [ENSMUST00000130436] [ENSMUST00000149777] [ENSMUST00000142097] [ENSMUST00000154001] [ENSMUST00000155104]

AlphaFold

Q9D8K8

Predicted Effect

probably benign
Transcript: ENSMUST00000006750

SMART Domains

Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000018821
AA Change: D100G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	156	6.9e-23	PFAM
Pfam:Mito_carr	158	247	6.1e-19	PFAM
Pfam:Mito_carr	251	352	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107098
AA Change: D92G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: D92G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	148	1.4e-21	PFAM
Pfam:Mito_carr	150	240	3.7e-19	PFAM
Pfam:Mito_carr	243	344	4.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107102

SMART Domains

Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107103

SMART Domains

Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575

Domain	Start	End	E-Value	Type
RUN	120	182	2.34e-19	SMART
coiled coil region	262	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107105

SMART Domains

Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123688

Predicted Effect

probably benign
Transcript: ENSMUST00000134669
AA Change: D100G

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

SMART Domains

Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	69	1.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124755
AA Change: D100G

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

SMART Domains

Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	71	1.3e-9	PFAM
Pfam:Mito_carr	92	152	9.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130436
AA Change: D100G

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

SMART Domains

Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	1.8e-9	PFAM
Pfam:Mito_carr	92	156	5.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149777
AA Change: D100G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	2.7e-9	PFAM
Pfam:Mito_carr	92	156	8.7e-15	PFAM
Pfam:Mito_carr	158	220	6.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142097
AA Change: D92G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
AA Change: D92G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	63	2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

probably benign
Transcript: ENSMUST00000128825

SMART Domains

Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	35	77	6.5e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154001
AA Change: D100G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	3.1e-10	PFAM
Pfam:Mito_carr	92	156	9.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155104
AA Change: D100G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	69	3.7e-9	PFAM
Pfam:Mito_carr	92	156	1.2e-14	PFAM
Pfam:Mito_carr	158	248	5.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183859

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,020,940 (GRCm39)	D628G	probably benign	Het
Aldh1l1	T	A	6: 90,568,823 (GRCm39)	I708N	probably damaging	Het
Ank3	T	A	10: 69,840,555 (GRCm39)	F985I	possibly damaging	Het
Arap2	A	G	5: 62,798,685 (GRCm39)	W1315R	probably damaging	Het
Arhgef33	C	A	17: 80,655,112 (GRCm39)	Q106K	probably damaging	Het
Atad5	G	A	11: 79,986,343 (GRCm39)	G477S	probably benign	Het
Chgb	T	A	2: 132,635,411 (GRCm39)	I451K	probably benign	Het
Cln6	T	A	9: 62,754,252 (GRCm39)	I98N	probably damaging	Het
Commd1	T	C	11: 22,849,981 (GRCm39)	E234G	probably damaging	Het
Dock2	C	A	11: 34,189,528 (GRCm39)		probably null	Het
Flrt2	T	C	12: 95,746,369 (GRCm39)	S236P	probably damaging	Het
Garnl3	G	A	2: 32,887,701 (GRCm39)	Q770*	probably null	Het
Gpr22	C	T	12: 31,760,044 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,503,164 (GRCm39)	D3880E	probably benign	Het
Lgals8	T	C	13: 12,471,219 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,101 (GRCm39)	V214A	probably benign	Het
Nat8l	T	C	5: 34,155,809 (GRCm39)	L155P	probably damaging	Het
Nckipsd	A	G	9: 108,691,154 (GRCm39)	S359G	probably benign	Het
Pex6	A	C	17: 47,034,650 (GRCm39)	N785T	probably damaging	Het
Potefam1	A	T	2: 111,023,823 (GRCm39)	C104S	unknown	Het
Ptprz1	T	A	6: 23,000,437 (GRCm39)	H842Q	probably damaging	Het
Rhno1	A	T	6: 128,335,021 (GRCm39)	S101T	probably damaging	Het
Rnf103	T	G	6: 71,486,167 (GRCm39)	V266G	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Svep1	C	T	4: 58,084,872 (GRCm39)	G1822E	probably damaging	Het
Tbl3	T	A	17: 24,921,291 (GRCm39)	D500V	probably damaging	Het
Tmc5	T	C	7: 118,223,047 (GRCm39)		probably benign	Het
Usp20	C	T	2: 30,901,806 (GRCm39)	R524W	probably benign	Het
Wnk2	G	T	13: 49,230,038 (GRCm39)	P829T	probably damaging	Het
Zmiz1	A	G	14: 25,582,068 (GRCm39)	N84S	possibly damaging	Het

Other mutations in Slc25a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Slc25a39	APN	11	102,295,726 (GRCm39)	missense	probably damaging	1.00
IGL02734:Slc25a39	APN	11	102,295,349 (GRCm39)	missense	probably benign	0.03
IGL03382:Slc25a39	APN	11	102,297,030 (GRCm39)	critical splice donor site	probably null
R0218:Slc25a39	UTSW	11	102,297,056 (GRCm39)	missense	probably benign	0.00
R0359:Slc25a39	UTSW	11	102,297,395 (GRCm39)	missense	possibly damaging	0.88
R0939:Slc25a39	UTSW	11	102,295,877 (GRCm39)	missense	probably damaging	1.00
R1702:Slc25a39	UTSW	11	102,297,452 (GRCm39)	missense	possibly damaging	0.68
R2047:Slc25a39	UTSW	11	102,296,657 (GRCm39)	splice site	probably benign
R2367:Slc25a39	UTSW	11	102,294,477 (GRCm39)	missense	possibly damaging	0.52
R4018:Slc25a39	UTSW	11	102,295,850 (GRCm39)	missense	probably damaging	1.00
R4755:Slc25a39	UTSW	11	102,297,492 (GRCm39)	start gained	probably benign
R4878:Slc25a39	UTSW	11	102,294,501 (GRCm39)	missense	probably benign	0.06
R5629:Slc25a39	UTSW	11	102,295,719 (GRCm39)	nonsense	probably null
R5704:Slc25a39	UTSW	11	102,294,220 (GRCm39)	unclassified	probably benign
R6092:Slc25a39	UTSW	11	102,295,719 (GRCm39)	nonsense	probably null
R6502:Slc25a39	UTSW	11	102,295,286 (GRCm39)	missense	probably damaging	0.99
R6955:Slc25a39	UTSW	11	102,294,344 (GRCm39)	missense	probably benign	0.00
R6980:Slc25a39	UTSW	11	102,296,601 (GRCm39)	missense	probably damaging	0.99
R8717:Slc25a39	UTSW	11	102,294,620 (GRCm39)	missense	probably benign	0.00
R8990:Slc25a39	UTSW	11	102,295,895 (GRCm39)	missense	possibly damaging	0.92
R9574:Slc25a39	UTSW	11	102,295,390 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09