Mutagenetix > Incidental Mutation

Incidental Mutation 'R2367:Slc25a39'

246383

Institutional Source

Beutler Lab

Gene Symbol

Slc25a39

Ensembl Gene

ENSMUSG00000018677

Gene Name

solute carrier family 25, member 39

Synonyms

D11Ertd333e, 3010027G13Rik

MMRRC Submission

040348-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R2367 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102294477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 316 (T316S)

Ref Sequence

ENSEMBL: ENSMUSP00000018821 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000018821
AA Change: T316S

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: T316S

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: T308S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: T308S

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: ENSMUST00000132876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141535

Predicted Effect

probably benign
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: 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: 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

probably benign
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: 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: ENSMUST00000128825

SMART Domains

Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150982

Predicted Effect

probably benign
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 benign
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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	C	16: 22,974,069 (GRCm39)	V32A	probably benign	Het
Ceacam3	T	C	7: 16,885,813 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cfap46	C	A	7: 139,233,414 (GRCm39)	V296F	probably damaging	Het
Ctdspl2	T	C	2: 121,817,499 (GRCm39)	V182A	probably benign	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Daxx	C	T	17: 34,130,821 (GRCm39)	R279W	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Galnt13	A	T	2: 55,002,956 (GRCm39)	M552L	probably benign	Het
Gstt2	C	T	10: 75,668,524 (GRCm39)	G108S	probably benign	Het
Heatr1	T	A	13: 12,448,605 (GRCm39)	L422Q	probably damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Krtap26-1	C	A	16: 88,444,213 (GRCm39)	R136L	probably benign	Het
Mrgprb5	C	T	7: 47,818,347 (GRCm39)	W129*	probably null	Het
Ms4a3	G	A	19: 11,607,108 (GRCm39)	P186S	probably benign	Het
Myo15a	T	A	11: 60,408,064 (GRCm39)	M3184K	probably damaging	Het
Olig2	G	A	16: 91,023,454 (GRCm39)	R56Q	possibly damaging	Het
Or8u9	T	C	2: 86,001,981 (GRCm39)	Y60C	probably damaging	Het
Pgap3	C	T	11: 98,281,985 (GRCm39)		probably null	Het
Phgdh	C	G	3: 98,221,612 (GRCm39)	G440A	probably benign	Het
Scn1a	T	C	2: 66,158,023 (GRCm39)	Q450R	probably damaging	Het
Sema4d	CGGGG	CGGGGGGG	13: 51,857,176 (GRCm39)		probably benign	Het
Sik1	C	T	17: 32,065,271 (GRCm39)	V776I	possibly damaging	Het
Slc38a10	C	T	11: 120,001,087 (GRCm39)	E578K	probably benign	Het
Slc44a5	T	A	3: 153,953,446 (GRCm39)	I276K	possibly damaging	Het
Smarcc2	A	G	10: 128,318,036 (GRCm39)	T610A	possibly damaging	Het
Spag9	G	A	11: 94,007,583 (GRCm39)	S1090N	probably damaging	Het
Tpr	T	C	1: 150,309,479 (GRCm39)	V277A	probably damaging	Het
Traf3ip1	T	G	1: 91,435,242 (GRCm39)	S314A	possibly damaging	Het
Tril	T	A	6: 53,796,151 (GRCm39)	D357V	probably damaging	Het
Tube1	T	C	10: 39,020,915 (GRCm39)	L267P	probably damaging	Het
Vmn1r11	A	G	6: 57,114,416 (GRCm39)	I27V	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
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
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'- GTTGAGCCTCTGGAAGAAGC -3'
(R):5'- CCTTCGATGTGGTGAAGACAC -3'

Sequencing Primer
(F):5'- TGCCAAACTCGTAAGTGCTG -3'
(R):5'- CAGCGACAGATGTCACTGG -3'

Posted On

2014-10-30