Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Slc25a38'

42054

Institutional Source

Beutler Lab

Gene Symbol

Slc25a38

Ensembl Gene

ENSMUSG00000032519

Gene Name

solute carrier family 25, member 38

Synonyms

appoptosin

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119939440-119953570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119949899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

Ref Sequence

ENSEMBL: ENSMUSP00000121747 (fasta)

Gene Model

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

AlphaFold

Q91XD8

Predicted Effect

probably benign
Transcript: ENSMUST00000035106
AA Change: V226A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: V226A

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 benign
Transcript: ENSMUST00000135514
AA Change: V205A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: V205A

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154969

Meta Mutation Damage Score

0.0636

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	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
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
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'- GCTATGAGAGCATCTATGCAGCCC -3'
(R):5'- TCAGTGTTCCCAAGCTAGTCTGAGG -3'

Sequencing Primer
(F):5'- ATCTATGCAGCCCTGAGGAG -3'
(R):5'- CTGTTGCATAACCTTGGCAAAAC -3'

Posted On

2013-05-23