Mutagenetix > Incidental Mutation

Incidental Mutation 'R9574:Slc25a39'

722216

Institutional Source

Beutler Lab

Gene Symbol

Slc25a39

Ensembl Gene

ENSMUSG00000018677

Gene Name

solute carrier family 25, member 39

Synonyms

D11Ertd333e, 3010027G13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R9574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102295390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 193 (H193Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000124755] [ENSMUST00000130436] [ENSMUST00000134669] [ENSMUST00000142097] [ENSMUST00000149777] [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: H193Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: H193Q

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: H185Q

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

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: H185Q

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

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: 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 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: 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: ENSMUST00000149777
AA Change: H193Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
AA Change: H193Q

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: 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
AA Change: H193Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: H193Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,496 (GRCm39)	E697V	probably damaging	Het
Actn4	T	C	7: 28,594,864 (GRCm39)	D805G	probably benign	Het
Adam2	C	T	14: 66,275,071 (GRCm39)	S554N	probably benign	Het
Adra2b	A	G	2: 127,206,283 (GRCm39)	T267A	probably benign	Het
Apobec4	A	T	1: 152,632,415 (GRCm39)	T148S	probably damaging	Het
B4galt1	T	A	4: 40,853,766 (GRCm39)	M14L	probably benign	Het
Bok	C	A	1: 93,616,947 (GRCm39)	Q98K	probably benign	Het
Cacnb4	A	T	2: 52,327,016 (GRCm39)	L394Q	probably damaging	Het
Ccar2	T	C	14: 70,381,105 (GRCm39)	K287E	probably benign	Het
Cdyl2	T	A	8: 117,350,669 (GRCm39)	E154V	probably benign	Het
Cenpn	T	G	8: 117,660,149 (GRCm39)	Y160D	probably damaging	Het
Cfap20	T	C	8: 96,149,514 (GRCm39)	Y58C	probably benign	Het
Creb5	T	A	6: 53,658,039 (GRCm39)	L123Q	unknown	Het
Cspg4	G	A	9: 56,797,342 (GRCm39)	V1269M	probably damaging	Het
Cyp2b19	G	T	7: 26,466,353 (GRCm39)	K385N	probably null	Het
Cyp2b19	A	T	7: 26,466,352 (GRCm39)	K385M	probably damaging	Het
Ercc2	C	A	7: 19,124,060 (GRCm39)	D422E	probably benign	Het
Fbxl12	A	G	9: 20,550,109 (GRCm39)	V129A	possibly damaging	Het
Fbxo11	T	C	17: 88,321,951 (GRCm39)	E84G		Het
Fmn1	T	C	2: 113,425,402 (GRCm39)	L1192S	probably damaging	Het
Galk2	T	C	2: 125,824,979 (GRCm39)	F392L	probably benign	Het
Gas2l3	G	A	10: 89,258,135 (GRCm39)	H153Y	probably damaging	Het
Gcn1	A	T	5: 115,713,341 (GRCm39)	K101N	possibly damaging	Het
Gmfg	C	T	7: 28,145,359 (GRCm39)	Q101*	probably null	Het
Gpr108	C	T	17: 57,545,039 (GRCm39)	C309Y	probably damaging	Het
H3c8	T	C	13: 23,719,761 (GRCm39)	L49P	probably damaging	Het
Hscb	A	T	5: 110,982,595 (GRCm39)	I164N	probably damaging	Het
Kifc2	T	C	15: 76,546,397 (GRCm39)	W260R	probably damaging	Het
Lrp6	T	A	6: 134,447,662 (GRCm39)	D995V	possibly damaging	Het
Lrrc1	T	A	9: 77,358,708 (GRCm39)	I308F	probably damaging	Het
Map7	C	T	10: 20,153,966 (GRCm39)	A694V	unknown	Het
Mapre2	A	G	18: 23,965,993 (GRCm39)	D68G	probably benign	Het
Mertk	A	T	2: 128,593,880 (GRCm39)	I295F	probably benign	Het
Mst1	T	A	9: 107,962,053 (GRCm39)	C690*	probably null	Het
Nde1	A	G	16: 13,988,345 (GRCm39)	E76G	probably damaging	Het
Nek5	T	C	8: 22,564,040 (GRCm39)	T597A	probably benign	Het
Nup210l	T	C	3: 90,117,693 (GRCm39)	F1800L	probably benign	Het
Or5c1	A	G	2: 37,222,148 (GRCm39)	I130V	possibly damaging	Het
Pdpn	T	A	4: 142,997,101 (GRCm39)	D131V	probably benign	Het
Pgap6	T	C	17: 26,337,861 (GRCm39)	V415A	probably damaging	Het
Pot1a	T	C	6: 25,775,718 (GRCm39)	T118A	possibly damaging	Het
Prom1	A	G	5: 44,158,179 (GRCm39)	I843T	probably benign	Het
Prrt3	T	C	6: 113,474,587 (GRCm39)	T212A	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Rarb	A	T	14: 16,574,858 (GRCm38)	S53T	probably damaging	Het
Rnft2	A	G	5: 118,375,330 (GRCm39)	S140P	probably benign	Het
Rxfp1	T	C	3: 79,563,581 (GRCm39)	M362V	probably benign	Het
Sall2	G	A	14: 52,551,617 (GRCm39)	T526M	probably damaging	Het
Scube1	T	C	15: 83,501,000 (GRCm39)	D598G		Het
Sema3f	T	A	9: 107,566,972 (GRCm39)	I186F	possibly damaging	Het
Shank2	A	G	7: 143,622,462 (GRCm39)	T199A	possibly damaging	Het
Sipa1l2	T	A	8: 126,169,453 (GRCm39)	M1427L	probably benign	Het
Sis	C	T	3: 72,828,490 (GRCm39)	G1195D	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Srgn	A	C	10: 62,343,444 (GRCm39)	L17R	probably damaging	Het
Stard5	A	G	7: 83,281,944 (GRCm39)	N34D	probably benign	Het
Syt8	A	T	7: 141,993,203 (GRCm39)	D220V	probably damaging	Het
Tex15	A	G	8: 34,064,509 (GRCm39)	E1313G	probably benign	Het
Tmem131l	T	C	3: 83,868,911 (GRCm39)	R155G	probably damaging	Het
Tmem220	T	C	11: 66,916,093 (GRCm39)	V30A	probably damaging	Het
Tollip	A	G	7: 141,445,731 (GRCm39)	I119T	probably damaging	Het
Treml4	G	A	17: 48,571,672 (GRCm39)	G25D	probably damaging	Het
Trim7	T	C	11: 48,728,460 (GRCm39)	F36S	probably damaging	Het
Txnrd3	T	A	6: 89,640,166 (GRCm39)	C293*	probably null	Het
Utp14b	A	G	1: 78,643,482 (GRCm39)	D460G	probably benign	Het
Vmn2r41	T	A	7: 8,153,329 (GRCm39)	N397Y	probably benign	Het
Vmn2r67	T	C	7: 84,786,017 (GRCm39)	I663V	probably benign	Het
Zfp292	T	A	4: 34,839,460 (GRCm39)	H135L	probably damaging	Het
Zfp420	C	T	7: 29,575,480 (GRCm39)	R567*	probably null	Het
Zfp518b	C	T	5: 38,830,773 (GRCm39)	V411M	probably benign	Het
Zfp638	T	A	6: 83,956,680 (GRCm39)	D1762E	probably damaging	Het
Zfp691	T	A	4: 119,028,230 (GRCm39)	M1L	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
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

Predicted Primers

PCR Primer
(F):5'- CGGCCATTTTAGTAACGAAGGAG -3'
(R):5'- AACTAACCATTGACCTTCTGGG -3'

Sequencing Primer
(F):5'- GAGGGACTTGGTTAAACATTACC -3'
(R):5'- GCCTCTTGCTAGCCTGGG -3'

Posted On

2022-08-09