Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03382:Slc25a39'

420753

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 #

IGL03382

Quality Score

Status

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 102297030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115445 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677

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 null
Transcript: ENSMUST00000107098

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677

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

noncoding transcript
Transcript: ENSMUST00000153395

Predicted Effect

probably null
Transcript: ENSMUST00000130436

SMART Domains

Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677

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: ENSMUST00000134669

SMART Domains

Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677

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

Predicted Effect

probably null
Transcript: ENSMUST00000149777

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677

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

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

probably null
Transcript: ENSMUST00000124755

SMART Domains

Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677

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: ENSMUST00000142097

SMART Domains

Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

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 null
Transcript: ENSMUST00000154001

SMART Domains

Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677

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 null
Transcript: ENSMUST00000155104

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677

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: 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	A	G	5: 103,988,926 (GRCm39)	D831G	possibly damaging	Het
Amer2	A	G	14: 60,617,331 (GRCm39)	K509E	possibly damaging	Het
Ankrd6	T	C	4: 32,808,771 (GRCm39)	K449E	probably damaging	Het
Atp8b2	G	A	3: 89,855,828 (GRCm39)	P459L	probably benign	Het
Atr	C	T	9: 95,802,875 (GRCm39)	R1846*	probably null	Het
Brd10	C	T	19: 29,694,676 (GRCm39)	G1606R	probably damaging	Het
Ccdc159	C	A	9: 21,842,992 (GRCm39)		probably null	Het
Ccna1	A	C	3: 54,954,698 (GRCm39)	Y338D	probably damaging	Het
Cpq	A	T	15: 33,213,089 (GRCm39)	E36V	probably damaging	Het
Cyp2c23	A	G	19: 44,003,371 (GRCm39)	I268T	probably damaging	Het
Dctn2	G	T	10: 127,114,057 (GRCm39)	Q332H	probably damaging	Het
Dnah17	T	A	11: 117,972,769 (GRCm39)	I2055F	probably damaging	Het
Dnmt3b	A	G	2: 153,528,279 (GRCm39)	H764R	probably damaging	Het
Gphn	T	A	12: 78,528,087 (GRCm39)	I135K	probably damaging	Het
Hnrnpul1	A	G	7: 25,450,409 (GRCm39)	M1T	probably null	Het
Htra4	T	C	8: 25,519,714 (GRCm39)	D406G	probably benign	Het
Klk10	G	T	7: 43,433,883 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,367,616 (GRCm39)	W53R	probably benign	Het
Magel2	T	C	7: 62,028,461 (GRCm39)	V455A	probably benign	Het
Mrgprb5	T	C	7: 47,818,442 (GRCm39)	T98A	probably benign	Het
Mrps35	T	A	6: 146,951,373 (GRCm39)	C76*	probably null	Het
Myh7b	C	T	2: 155,465,399 (GRCm39)	R701C	probably damaging	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Neb	T	A	2: 52,215,720 (GRCm39)	M196L	probably benign	Het
Nmd3	A	G	3: 69,642,421 (GRCm39)	K207R	probably damaging	Het
Plxna4	C	T	6: 32,179,129 (GRCm39)	R962Q	probably benign	Het
Pom121	T	C	5: 135,421,261 (GRCm39)	K230E	unknown	Het
Psme4	A	G	11: 30,757,788 (GRCm39)	D307G	possibly damaging	Het
Rnf41	T	G	10: 128,274,149 (GRCm39)	M267R	possibly damaging	Het
Sis	T	C	3: 72,836,052 (GRCm39)	N846D	probably benign	Het
Slc22a19	T	A	19: 7,659,227 (GRCm39)	I463L	probably benign	Het
Slc35b2	C	T	17: 45,877,571 (GRCm39)	R233C	probably damaging	Het
Slc4a4	T	C	5: 89,376,695 (GRCm39)	L983P	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Tbc1d10a	A	G	11: 4,159,984 (GRCm39)	Y123C	probably damaging	Het
Thbs4	A	C	13: 92,906,056 (GRCm39)	I395S	probably benign	Het
Triml2	A	G	8: 43,646,776 (GRCm39)	T422A	probably benign	Het
Ubn2	T	C	6: 38,417,382 (GRCm39)		probably benign	Het
Vmn1r15	T	A	6: 57,235,555 (GRCm39)	M141K	probably benign	Het
Vmn2r80	A	G	10: 79,005,362 (GRCm39)	E333G	probably damaging	Het
Zfp169	T	C	13: 48,644,639 (GRCm39)		probably benign	Het
Zfp942	G	A	17: 22,148,083 (GRCm39)	P182L	probably benign	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
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
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

2016-08-02