Mutagenetix > Incidental Mutation

Incidental Mutation 'R3775:Slc25a19'

273561

Institutional Source

Beutler Lab

Gene Symbol

Slc25a19

Ensembl Gene

ENSMUSG00000020744

Gene Name

solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

Synonyms

2900089E13Rik, DNC, MUP1, TPC

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115505004-115519121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115506285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 303 (Y303H)

Ref Sequence

ENSEMBL: ENSMUSP00000137534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021087] [ENSMUST00000021089] [ENSMUST00000106503] [ENSMUST00000106506] [ENSMUST00000106507] [ENSMUST00000135552] [ENSMUST00000178003] [ENSMUST00000148574]

AlphaFold

Q9DAM5

Predicted Effect

probably benign
Transcript: ENSMUST00000021087

SMART Domains

Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	205	1.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021089
AA Change: Y303H

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

SMART Domains

Protein: ENSMUSP00000021089
Gene: ENSMUSG00000020744
AA Change: Y303H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	12	111	5.7e-20	PFAM
Pfam:Mito_carr	114	205	5.3e-24	PFAM
Pfam:Mito_carr	212	313	5.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106503

SMART Domains

Protein: ENSMUSP00000102112
Gene: ENSMUSG00000020744

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	11	111	1.7e-22	PFAM
Pfam:Mito_carr	114	172	9.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106506

SMART Domains

Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	186	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106507

SMART Domains

Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	204	3.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127132

Predicted Effect

probably damaging
Transcript: ENSMUST00000135552
AA Change: Y220H

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

SMART Domains

Protein: ENSMUSP00000114566
Gene: ENSMUSG00000020744
AA Change: Y220H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	31	122	1.1e-25	PFAM
Pfam:Mito_carr	129	226	4.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178003
AA Change: Y303H

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

SMART Domains

Protein: ENSMUSP00000137534
Gene: ENSMUSG00000020744
AA Change: Y303H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	11	111	1.1e-21	PFAM
Pfam:Mito_carr	114	205	7e-25	PFAM
Pfam:Mito_carr	212	313	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146244

Predicted Effect

probably benign
Transcript: ENSMUST00000148574

SMART Domains

Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	162	1.3e-7	PFAM

Meta Mutation Damage Score

0.7410

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,986,387 (GRCm39)	E2557G	possibly damaging	Het
Arid1a	A	G	4: 133,414,075 (GRCm39)	S1248P	unknown	Het
C2cd3	T	C	7: 100,081,205 (GRCm39)	L1327S	probably damaging	Het
Ccnh	T	C	13: 85,354,243 (GRCm39)		probably benign	Het
Dcdc5	C	A	2: 106,202,738 (GRCm39)		noncoding transcript	Het
Eprs1	T	C	1: 185,105,205 (GRCm39)	F160S	probably damaging	Het
F9	A	G	X: 59,064,345 (GRCm39)	I190V	probably benign	Het
Fam185a	C	A	5: 21,660,804 (GRCm39)	A273D	probably damaging	Het
Fhod1	G	A	8: 106,058,270 (GRCm39)		probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Hipk2	T	C	6: 38,720,029 (GRCm39)	D534G	probably damaging	Het
Ints6l	T	C	X: 55,526,731 (GRCm39)	L220S	probably damaging	Het
Kat7	T	C	11: 95,182,357 (GRCm39)	T250A	probably benign	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mpp3	G	T	11: 101,914,193 (GRCm39)	S134*	probably null	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Nlrp1b	T	C	11: 71,047,126 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,157,502 (GRCm39)	F271L	possibly damaging	Het
Nup160	G	T	2: 90,552,420 (GRCm39)	C1132F	probably benign	Het
Or13p3	C	T	4: 118,567,351 (GRCm39)	T249I	probably damaging	Het
Or1o2	T	A	17: 37,543,121 (GRCm39)	I47F	probably damaging	Het
Pcdhga5	A	G	18: 37,828,167 (GRCm39)	E205G	possibly damaging	Het
Pdgfc	A	G	3: 81,048,858 (GRCm39)	T89A	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Pgr15l	G	T	X: 96,120,747 (GRCm39)	R181M	probably damaging	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rnf112	A	T	11: 61,341,011 (GRCm39)		probably benign	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Sympk	T	C	7: 18,769,880 (GRCm39)	F186L	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn2r29	C	G	7: 7,243,011 (GRCm39)	D500H	probably damaging	Het

Other mutations in Slc25a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Baggins	UTSW	11	115,508,386 (GRCm39)	missense	possibly damaging	0.91
rings	UTSW	11	115,506,377 (GRCm39)	missense	probably benign	0.14
BB001:Slc25a19	UTSW	11	115,506,376 (GRCm39)	missense	unknown
BB011:Slc25a19	UTSW	11	115,506,376 (GRCm39)	missense	unknown
PIT4498001:Slc25a19	UTSW	11	115,514,781 (GRCm39)	missense	possibly damaging	0.80
R0335:Slc25a19	UTSW	11	115,515,032 (GRCm39)	missense	probably damaging	1.00
R0398:Slc25a19	UTSW	11	115,508,401 (GRCm39)	missense	probably damaging	1.00
R0454:Slc25a19	UTSW	11	115,508,423 (GRCm39)	nonsense	probably null
R1614:Slc25a19	UTSW	11	115,507,449 (GRCm39)	nonsense	probably null
R3776:Slc25a19	UTSW	11	115,506,285 (GRCm39)	missense	probably damaging	1.00
R5000:Slc25a19	UTSW	11	115,507,497 (GRCm39)	splice site	probably null
R5593:Slc25a19	UTSW	11	115,507,418 (GRCm39)	missense	probably damaging	1.00
R5738:Slc25a19	UTSW	11	115,515,060 (GRCm39)	missense	probably benign	0.24
R6167:Slc25a19	UTSW	11	115,506,377 (GRCm39)	missense	probably benign	0.14
R6306:Slc25a19	UTSW	11	115,508,386 (GRCm39)	missense	possibly damaging	0.91
R7014:Slc25a19	UTSW	11	115,511,792 (GRCm39)	missense	probably damaging	1.00
R7161:Slc25a19	UTSW	11	115,507,373 (GRCm39)	missense	possibly damaging	0.66
R7924:Slc25a19	UTSW	11	115,506,376 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCAGCTCCGGATGACTTCATG -3'
(R):5'- TTAGAAAGAGTGAGGAGCTCCC -3'

Sequencing Primer
(F):5'- GATGACTTCATGCTCCCGG -3'
(R):5'- CAGGCAGTTACAGGAGCTGC -3'

Posted On

2015-03-25