Mutagenetix > Incidental Mutation

Incidental Mutation 'R8007:Slc25a38'

616693

Institutional Source

Beutler Lab

Gene Symbol

Slc25a38

Ensembl Gene

ENSMUSG00000032519

Gene Name

solute carrier family 25, member 38

Synonyms

appoptosin

MMRRC Submission

046047-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R8007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119939440-119953570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119951208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 247 (I247K)

Ref Sequence

ENSEMBL: ENSMUSP00000035106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035106] [ENSMUST00000135514] [ENSMUST00000144768] [ENSMUST00000150093]

AlphaFold

Q91XD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035106
AA Change: I247K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: I247K

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	139	4.1e-23	PFAM
Pfam:Mito_carr	139	229	2.5e-19	PFAM
Pfam:Mito_carr	237	326	4.8e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135514
AA Change: I226K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: I226K

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	22	118	2.8e-23	PFAM
Pfam:Mito_carr	118	208	1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144768

SMART Domains

Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	114	1.2e-16	PFAM
low complexity region	163	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150093

SMART Domains

Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	44	114	5.5e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,845 (GRCm39)		probably benign	Het
A430033K04Rik	T	C	5: 138,644,901 (GRCm39)	I262T	probably benign	Het
Acacb	A	G	5: 114,356,935 (GRCm39)	R1289G	probably damaging	Het
Adgre4	A	T	17: 56,121,233 (GRCm39)	H433L	probably damaging	Het
Adgrv1	A	G	13: 81,431,585 (GRCm39)	F5948L	probably benign	Het
Adtrp	A	T	13: 41,969,707 (GRCm39)	D97E	probably damaging	Het
Anapc5	T	C	5: 122,929,963 (GRCm39)	T543A	probably benign	Het
Ank2	G	C	3: 126,730,096 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,289,405 (GRCm39)	A813V	probably benign	Het
Cc2d2a	T	A	5: 43,863,442 (GRCm39)	Y684N	possibly damaging	Het
Cenpf	G	A	1: 189,379,144 (GRCm39)	P35L		Het
Chtf18	A	G	17: 25,944,508 (GRCm39)	F281L	probably damaging	Het
Clstn1	T	C	4: 149,716,305 (GRCm39)	V257A	probably damaging	Het
Cnmd	A	T	14: 79,875,406 (GRCm39)	V338E	probably damaging	Het
Col6a3	A	C	1: 90,705,179 (GRCm39)	F2848V	unknown	Het
Corin	T	C	5: 72,473,446 (GRCm39)	S888G	probably damaging	Het
Ctss	A	T	3: 95,457,465 (GRCm39)	S309C	probably null	Het
Dmxl2	G	A	9: 54,290,975 (GRCm39)	Q2492*	probably null	Het
Exoc7	C	T	11: 116,197,465 (GRCm39)	R12Q	possibly damaging	Het
F12	A	G	13: 55,566,265 (GRCm39)	I509T	probably damaging	Het
F13b	A	G	1: 139,434,680 (GRCm39)	K149E	probably benign	Het
Fasn	A	G	11: 120,700,353 (GRCm39)	I2159T	probably benign	Het
Fgfr2	A	T	7: 129,765,719 (GRCm39)	Y831*	probably null	Het
Foxp1	A	T	6: 98,918,595 (GRCm39)	S514R	unknown	Het
Gm11569	A	G	11: 99,689,688 (GRCm39)	S4P	unknown	Het
Gria4	T	C	9: 4,503,740 (GRCm39)		probably benign	Het
Hnrnpul2	T	A	19: 8,798,179 (GRCm39)		probably null	Het
Ibtk	A	T	9: 85,572,770 (GRCm39)	D1257E	probably benign	Het
Ip6k2	T	C	9: 108,682,955 (GRCm39)	V355A	probably benign	Het
Kcnd2	G	A	6: 21,217,073 (GRCm39)	R259H	probably damaging	Het
Kcnj2	A	C	11: 110,963,884 (GRCm39)	E425D	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgi2	C	A	5: 52,723,375 (GRCm39)	A25S	probably benign	Het
Lrp2	T	C	2: 69,336,849 (GRCm39)	T1308A	probably benign	Het
Ly6g2	A	G	15: 75,088,552 (GRCm39)	T7A	probably benign	Het
Matn2	A	T	15: 34,426,315 (GRCm39)	N609I	probably benign	Het
Mocs2	T	A	13: 114,957,409 (GRCm39)	S9T	possibly damaging	Het
Nebl	T	A	2: 17,375,300 (GRCm39)	I102F		Het
Nudt19	A	G	7: 35,255,045 (GRCm39)	V62A	probably benign	Het
Or10u4	T	A	10: 129,801,744 (GRCm39)	D269V	possibly damaging	Het
Or12k8	T	A	2: 36,974,855 (GRCm39)	R302W	probably damaging	Het
Or4a68	C	T	2: 89,270,684 (GRCm39)			Het
Or4k42	A	T	2: 111,320,068 (GRCm39)	V145E	probably damaging	Het
Pacrg	A	G	17: 11,058,919 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,609,874 (GRCm39)	I1529T	probably damaging	Het
Pcdhga7	A	T	18: 37,849,946 (GRCm39)	H651L	probably benign	Het
Plch2	A	G	4: 155,087,288 (GRCm39)	L321P	probably damaging	Het
Ppargc1b	A	T	18: 61,443,565 (GRCm39)	S549T	possibly damaging	Het
Rtel1	T	A	2: 180,976,767 (GRCm39)	N254K	probably damaging	Het
Rtl1	T	C	12: 109,558,060 (GRCm39)	N1260D	possibly damaging	Het
Samd7	T	A	3: 30,812,531 (GRCm39)	W324R	probably damaging	Het
Serpinb9e	A	G	13: 33,435,605 (GRCm39)	I13V	probably benign	Het
Skint10	A	G	4: 112,568,865 (GRCm39)	L284S	possibly damaging	Het
Smarce1	G	C	11: 99,115,876 (GRCm39)	N48K	possibly damaging	Het
Stmn4	T	G	14: 66,593,032 (GRCm39)		probably benign	Het
Stt3a	G	C	9: 36,653,065 (GRCm39)	T539R	probably damaging	Het
Tab1	G	A	15: 80,042,969 (GRCm39)	V388I	possibly damaging	Het
Tcf12	G	C	9: 71,841,905 (GRCm39)		probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trp53inp1	T	C	4: 11,164,525 (GRCm39)	F23S	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Yae1d1	G	A	13: 18,164,329 (GRCm39)	S96L	probably damaging	Het
Zfp142	T	C	1: 74,610,655 (GRCm39)	I1047V	probably benign	Het

Other mutations in Slc25a38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Slc25a38	APN	9	119,949,373 (GRCm39)	nonsense	probably null
IGL01012:Slc25a38	APN	9	119,945,560 (GRCm39)	splice site	probably benign
IGL02084:Slc25a38	APN	9	119,949,512 (GRCm39)	splice site	probably benign
IGL02203:Slc25a38	APN	9	119,949,878 (GRCm39)	missense	probably damaging	1.00
IGL02281:Slc25a38	APN	9	119,946,598 (GRCm39)	missense	probably damaging	1.00
R0482:Slc25a38	UTSW	9	119,949,899 (GRCm39)	missense	probably benign	0.01
R0532:Slc25a38	UTSW	9	119,949,772 (GRCm39)	missense	probably damaging	1.00
R0550:Slc25a38	UTSW	9	119,952,709 (GRCm39)	missense	probably benign	0.00
R1523:Slc25a38	UTSW	9	119,952,769 (GRCm39)	missense	possibly damaging	0.94
R4908:Slc25a38	UTSW	9	119,949,354 (GRCm39)	missense	probably damaging	1.00
R5171:Slc25a38	UTSW	9	119,951,181 (GRCm39)	missense	probably benign	0.01
R5976:Slc25a38	UTSW	9	119,945,613 (GRCm39)	missense	probably damaging	0.98
R6092:Slc25a38	UTSW	9	119,945,658 (GRCm39)	missense	probably damaging	1.00
R7379:Slc25a38	UTSW	9	119,949,902 (GRCm39)	missense	probably benign	0.01
R8841:Slc25a38	UTSW	9	119,949,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCTGCATTGTTCCAGTCG -3'
(R):5'- AGTTCTACCGTTCCCCAGTG -3'

Sequencing Primer
(F):5'- TGTCAGCGACAGACACTGTTATC -3'
(R):5'- TACCGTTCCCCAGTGTGCAG -3'

Posted On

2020-01-23