Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Slc25a39'

519813

Institutional Source

Beutler Lab

Gene Symbol

Slc25a39

Ensembl Gene

ENSMUSG00000018677

Gene Name

solute carrier family 25, member 39

Synonyms

D11Ertd333e, 3010027G13Rik

MMRRC Submission

044634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R6502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102293811-102298772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102295286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 228 (P228L)

Ref Sequence

ENSEMBL: ENSMUSP00000018821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000134669] [ENSMUST00000130436] [ENSMUST00000149777] [ENSMUST00000124755] [ENSMUST00000142097] [ENSMUST00000155104] [ENSMUST00000154001]

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: P228L

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

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: P228L

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: P220L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: P220L

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

unknown
Transcript: ENSMUST00000128825
AA Change: P11L

SMART Domains

Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677
AA Change: P11L

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

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

noncoding transcript
Transcript: ENSMUST00000147860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131219

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: ENSMUST00000142097

SMART Domains

Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155104
AA Change: P228L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: P228L

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: ENSMUST00000150982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183859

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

noncoding transcript
Transcript: ENSMUST00000153395

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,333,908 (GRCm39)	I24K	probably benign	Het
Adamts9	A	T	6: 92,849,316 (GRCm39)	C467S	probably damaging	Het
Adcy7	G	A	8: 89,052,107 (GRCm39)	R925Q	probably damaging	Het
Akap6	G	A	12: 53,186,998 (GRCm39)	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,233,505 (GRCm39)	V506A	probably damaging	Het
Apob	A	G	12: 8,051,814 (GRCm39)	I1113M	probably damaging	Het
Arsg	A	T	11: 109,408,162 (GRCm39)	N105Y	probably damaging	Het
Blm	T	A	7: 80,131,223 (GRCm39)	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,961,017 (GRCm39)	N797Y	probably benign	Het
Camsap1	T	C	2: 25,846,320 (GRCm39)	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,279,509 (GRCm39)		probably null	Homo
Ccdc141	A	G	2: 77,000,745 (GRCm39)	V29A	probably damaging	Het
Cd244a	T	A	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Cfap157	T	C	2: 32,670,690 (GRCm39)	Y186C	probably damaging	Het
Ciita	C	T	16: 10,329,774 (GRCm39)	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,765,884 (GRCm39)		probably null	Het
Col16a1	C	T	4: 129,949,787 (GRCm39)	P50L	probably damaging	Het
Crisp3	A	T	17: 40,546,804 (GRCm39)	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,112,173 (GRCm39)	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,346,133 (GRCm39)	E488K	probably damaging	Het
Eed	C	A	7: 89,626,237 (GRCm39)	E45D	probably benign	Het
Eln	A	G	5: 134,754,628 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,244,043 (GRCm39)	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,392,448 (GRCm39)	Y77N	possibly damaging	Het
Garnl3	T	C	2: 32,896,833 (GRCm39)	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,365,786 (GRCm39)	M11K	probably benign	Het
Glt1d1	A	G	5: 127,784,045 (GRCm39)	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,809,090 (GRCm39)	Y86*	probably null	Het
Gm14496	A	G	2: 181,642,386 (GRCm39)	M686V	probably benign	Het
Gse1	T	A	8: 121,280,428 (GRCm39)		probably null	Het
Herc4	C	A	10: 63,153,197 (GRCm39)	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,272,490 (GRCm39)	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 100,114,025 (GRCm39)	E3D	probably damaging	Het
Htr7	T	A	19: 35,947,010 (GRCm39)	I335F	probably damaging	Het
Ift70b	T	A	2: 75,767,448 (GRCm39)	N435I	possibly damaging	Het
Itgae	A	T	11: 73,036,418 (GRCm39)	I1119F	probably benign	Het
Lcn11	T	C	2: 25,669,103 (GRCm39)	F137S	probably benign	Het
Lrp3	T	G	7: 34,903,413 (GRCm39)	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,349,473 (GRCm39)	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,383,005 (GRCm39)	E2456V	unknown	Het
Lrriq1	T	C	10: 103,063,045 (GRCm39)	Y87C	probably damaging	Het
Mcc	A	T	18: 44,601,457 (GRCm39)	L449*	probably null	Het
Mcc	A	T	18: 44,601,458 (GRCm39)	L624M	probably damaging	Het
Mcm9	T	C	10: 53,488,935 (GRCm39)	T496A	probably damaging	Het
Myef2	T	A	2: 124,958,602 (GRCm39)	D109V	probably damaging	Het
Myom3	C	T	4: 135,489,824 (GRCm39)		probably benign	Het
Nanos1	G	T	19: 60,744,977 (GRCm39)	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,272,240 (GRCm39)	K84*	probably null	Het
Neb	T	A	2: 52,181,094 (GRCm39)	D1171V	probably benign	Het
Notch3	A	G	17: 32,377,191 (GRCm39)	W267R	probably damaging	Het
Or5d39	A	T	2: 87,980,360 (GRCm39)	M1K	probably null	Het
Or8d1	A	C	9: 38,766,933 (GRCm39)	T192P	probably damaging	Het
Per2	A	G	1: 91,355,485 (GRCm39)	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,079,371 (GRCm39)	Q144R	probably benign	Het
Pirb	A	T	7: 3,720,392 (GRCm39)	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,748,367 (GRCm39)	W272*	probably null	Het
Plekha4	T	A	7: 45,180,000 (GRCm39)	M1K	probably null	Het
Ppt2	A	G	17: 34,844,894 (GRCm39)	C117R	probably damaging	Het
Prph	A	T	15: 98,954,267 (GRCm39)	I222F	probably damaging	Het
Rbm43	T	C	2: 51,815,588 (GRCm39)	D211G	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Rnf123	G	T	9: 107,945,531 (GRCm39)	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,415,932 (GRCm39)	F49S	probably damaging	Het
Sall4	A	G	2: 168,597,628 (GRCm39)	I404T	probably damaging	Het
Tbc1d14	T	C	5: 36,677,825 (GRCm39)	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,491,049 (GRCm39)	I555T	probably benign	Het
Tmem131l	A	T	3: 83,829,715 (GRCm39)	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,299,662 (GRCm39)	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,703,461 (GRCm39)	V26A	probably benign	Het
Tmppe	G	T	9: 114,234,720 (GRCm39)	G340W	probably damaging	Het
Tsc1	T	C	2: 28,555,613 (GRCm39)	S237P	probably damaging	Het
Ubr4	C	T	4: 139,171,982 (GRCm39)	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,608,318 (GRCm39)	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,293,067 (GRCm39)	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,373,342 (GRCm39)	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,653,252 (GRCm39)	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,465,308 (GRCm39)	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,185,599 (GRCm39)	S521P	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
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'- TAGGCAAAACCCTAGGTCCCTG -3'
(R):5'- GGGTTTGAATGCATGACCTC -3'

Sequencing Primer
(F):5'- GCTAGACCTGTCCTTATATAATGAGG -3'
(R):5'- GAATGCATGACCTCTTTGGC -3'

Posted On

2018-06-06