Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Slc25a38'

485992

Institutional Source

Beutler Lab

Gene Symbol

Slc25a38

Ensembl Gene

ENSMUSG00000032519

Gene Name

solute carrier family 25, member 38

Synonyms

appoptosin

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119939440-119953570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119945658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 74 (R74C)

Ref Sequence

ENSEMBL: ENSMUSP00000123357 (fasta)

Gene Model

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

AlphaFold

Q91XD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035106
AA Change: R74C

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

SMART Domains

Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: R74C

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

probably damaging
Transcript: ENSMUST00000135514
AA Change: R53C

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

SMART Domains

Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: R53C

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

noncoding transcript
Transcript: ENSMUST00000137522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139079

Predicted Effect

probably damaging
Transcript: ENSMUST00000144768
AA Change: R74C

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

SMART Domains

Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519
AA Change: R74C

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 damaging
Transcript: ENSMUST00000150093
AA Change: R74C

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

SMART Domains

Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519
AA Change: R74C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154969

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	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
R7379:Slc25a38	UTSW	9	119,949,902 (GRCm39)	missense	probably benign	0.01
R8007:Slc25a38	UTSW	9	119,951,208 (GRCm39)	missense	possibly damaging	0.88
R8841:Slc25a38	UTSW	9	119,949,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGAAGGATCTCAGAGG -3'
(R):5'- AAAGGAGCCCATGTAGTCAGC -3'

Sequencing Primer
(F):5'- TCTCAGAGGAGAAACCACAGATGC -3'
(R):5'- CATGGCCCAGTACTCAGGAAG -3'

Posted On

2017-08-16