Mutagenetix > Incidental Mutation

Incidental Mutation 'R0939:Slc25a39'

81321

Institutional Source

Beutler Lab

Gene Symbol

Slc25a39

Ensembl Gene

ENSMUSG00000018677

Gene Name

solute carrier family 25, member 39

Synonyms

D11Ertd333e, 3010027G13Rik

MMRRC Submission

039078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R0939 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102295877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 118 (E118G)

Ref Sequence

ENSEMBL: ENSMUSP00000115445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000124755] [ENSMUST00000149777] [ENSMUST00000130436] [ENSMUST00000134669] [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: E118G

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

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: E118G

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: E110G

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

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: E110G

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 damaging
Transcript: ENSMUST00000124755
AA Change: E118G

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

SMART Domains

Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
AA Change: E118G

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: ENSMUST00000149777
AA Change: E118G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
AA Change: E118G

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: ENSMUST00000130436
AA Change: E118G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
AA Change: E118G

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

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: ENSMUST00000132876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

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 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

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: E118G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
AA Change: E118G

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: E118G

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

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: E118G

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

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.7%

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
Aatk	C	T	11: 119,902,969 (GRCm39)	V419M	probably damaging	Het
Cdcp1	A	G	9: 123,012,755 (GRCm39)	V264A	probably damaging	Het
Cfap53	A	G	18: 74,438,801 (GRCm39)	D326G	probably null	Het
Dach1	A	G	14: 98,153,360 (GRCm39)	V436A	probably damaging	Het
Dnah11	C	T	12: 118,024,142 (GRCm39)	G1870S	probably damaging	Het
Dst	C	A	1: 34,283,464 (GRCm39)	H5324N	probably damaging	Het
Eapp	TTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTT	12: 54,732,734 (GRCm39)		probably benign	Het
Esd	C	A	14: 74,973,467 (GRCm39)	H21N	probably damaging	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Igdcc4	T	A	9: 65,038,755 (GRCm39)		probably null	Het
Mug1	A	T	6: 121,861,308 (GRCm39)	I1310F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Or10a3b	T	A	7: 108,444,440 (GRCm39)	Y259F	probably damaging	Het
Or10h5	T	C	17: 33,434,635 (GRCm39)	K231E	possibly damaging	Het
Or9g19	T	A	2: 85,600,997 (GRCm39)	L284*	probably null	Het
Pcdh17	A	G	14: 84,685,195 (GRCm39)	D554G	probably damaging	Het
Plcxd3	T	A	15: 4,546,344 (GRCm39)	L116*	probably null	Het
Prss1	A	C	6: 41,440,522 (GRCm39)	D199A	probably damaging	Het
Rbms3	C	T	9: 116,939,028 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,116,207 (GRCm39)	M1189V	probably benign	Het
Slfn5	G	T	11: 82,852,164 (GRCm39)	M763I	probably benign	Het
Speer4f2	A	G	5: 17,579,402 (GRCm39)	E67G	probably damaging	Het
Spef2	A	T	15: 9,704,636 (GRCm39)		probably null	Het
Spocd1	A	T	4: 129,842,663 (GRCm39)	D26V	possibly damaging	Het
Ssh1	A	G	5: 114,108,497 (GRCm39)	L50P	probably damaging	Het
Tle1	A	G	4: 72,036,771 (GRCm39)	L728P	probably damaging	Het
Trio	A	G	15: 27,741,336 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,297,549 (GRCm39)	E53K	probably damaging	Het
Vmn2r71	A	T	7: 85,272,889 (GRCm39)	T568S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAGGTCAAGGACTGACCACAC -3'
(R):5'- AGTCCACCTAGAACCAAGTTGGGG -3'

Sequencing Primer
(F):5'- CCTTGAGTTGGTCGTAAGCAG -3'
(R):5'- CCAAGTTGGGGGGCGTG -3'

Posted On

2013-11-07