Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Slc25a19'

557597

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

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115505004-115519121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115507373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 250 (E250K)

Ref Sequence

ENSEMBL: ENSMUSP00000021089 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000021089
AA Change: E250K

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021089
Gene: ENSMUSG00000020744
AA Change: E250K

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

silent
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

SMART Domains

Protein: ENSMUSP00000114566
Gene: ENSMUSG00000020744
AA Change: E167K

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 benign
Transcript: ENSMUST00000148574

SMART Domains

Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178003
AA Change: E250K

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137534
Gene: ENSMUSG00000020744
AA Change: E250K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	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
R3775:Slc25a19	UTSW	11	115,506,285 (GRCm39)	missense	probably damaging	1.00
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
R7924:Slc25a19	UTSW	11	115,506,376 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AACCTAGCATTGTGTAACCTTATTTT -3'
(R):5'- ATTCAGGTGTCTATATGTGTATTGC -3'

Sequencing Primer
(F):5'- AGCACTGGTTGTCCTAGAAC -3'
(R):5'- CAAGCAATTGTGAGCTGTCTGAC -3'

Posted On

2019-06-26