Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01451:Slc25a39'

84645

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: 0.903) question?

Stock #

IGL01451

Quality Score

Status

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102295726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 138 (T138A)

Ref Sequence

ENSEMBL: ENSMUSP00000115087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000134669] [ENSMUST00000149777] [ENSMUST00000124755] [ENSMUST00000130436] [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 damaging
Transcript: ENSMUST00000018821
AA Change: T138A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: T138A

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 damaging
Transcript: ENSMUST00000107098
AA Change: T130A

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

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: T130A

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

possibly damaging
Transcript: ENSMUST00000134669
AA Change: Y115C

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
AA Change: Y115C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149777
AA Change: T138A

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

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
AA Change: T138A

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 damaging
Transcript: ENSMUST00000124755
AA Change: T138A

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

SMART Domains

Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
AA Change: T138A

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 damaging
Transcript: ENSMUST00000130436
AA Change: T138A

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

SMART Domains

Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
AA Change: T138A

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: ENSMUST00000142097
AA Change: Y107C

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
AA Change: Y107C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132876

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: T138A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
AA Change: T138A

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 damaging
Transcript: ENSMUST00000155104
AA Change: T138A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: T138A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,373,527 (GRCm39)	S23P	possibly damaging	Het
Adam1a	T	C	5: 121,657,439 (GRCm39)	Y618C	probably benign	Het
Amigo2	A	C	15: 97,143,107 (GRCm39)	S438R	probably benign	Het
Atp5me	T	C	5: 108,581,922 (GRCm39)	I21V	probably benign	Het
Dnah2	T	C	11: 69,365,017 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,260,390 (GRCm39)	Y984H	probably damaging	Het
Dpysl2	T	A	14: 67,045,367 (GRCm39)	I469F	possibly damaging	Het
Edem3	C	T	1: 151,694,379 (GRCm39)	T886I	probably benign	Het
Gart	T	C	16: 91,422,400 (GRCm39)	T706A	probably benign	Het
Gfpt2	A	T	11: 49,698,517 (GRCm39)		probably benign	Het
Gm11541	T	G	11: 94,586,495 (GRCm39)	D84A	unknown	Het
Gne	T	C	4: 44,041,860 (GRCm39)		probably null	Het
Gria4	A	T	9: 4,503,652 (GRCm39)	D321E	probably benign	Het
Ift122	T	G	6: 115,889,565 (GRCm39)		probably null	Het
Lcp2	A	T	11: 33,997,345 (GRCm39)		probably benign	Het
Mcm2	C	T	6: 88,868,948 (GRCm39)		probably benign	Het
Or8b54	A	G	9: 38,687,225 (GRCm39)	I225V	probably benign	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Rpap2	T	C	5: 107,751,492 (GRCm39)		probably null	Het
St6galnac1	A	C	11: 116,660,165 (GRCm39)	S49R	probably benign	Het
Stat1	T	C	1: 52,178,502 (GRCm39)	L312P	probably damaging	Het
Tmem198	T	C	1: 75,461,014 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Treml4	T	C	17: 48,572,023 (GRCm39)		probably benign	Het
Trpm6	A	G	19: 18,786,933 (GRCm39)	D503G	probably damaging	Het
Ttn	C	A	2: 76,775,617 (GRCm39)	E1854D	unknown	Het
Ubqln3	A	T	7: 103,791,403 (GRCm39)	M229K	possibly damaging	Het
Zfyve9	T	C	4: 108,539,457 (GRCm39)	T939A	probably damaging	Het

Other mutations in Slc25a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01601:Slc25a39	APN	11	102,296,544 (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

2013-11-11