Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Slc25a54'

57042

Institutional Source

Beutler Lab

Gene Symbol

Slc25a54

Ensembl Gene

ENSMUSG00000027880

Gene Name

solute carrier family 25, member 54

Synonyms

4930443G12Rik, SCaMC-1like

MMRRC Submission

038830-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0645 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108987815-109023898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 109019481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 362 (L362V)

Ref Sequence

ENSEMBL: ENSMUSP00000029478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]

AlphaFold

B1AUS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029478
AA Change: L362V

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: L362V

Domain	Start	End	E-Value	Type
EFh	23	51	4.28e0	SMART
EFh	59	87	3.82e0	SMART
EFh	90	118	4.12e-3	SMART
EFh	126	154	3.44e1	SMART
Pfam:Mito_carr	191	283	3.7e-25	PFAM
Pfam:Mito_carr	284	376	7.2e-24	PFAM
Pfam:Mito_carr	383	472	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159926

SMART Domains

Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880

Domain	Start	End	E-Value	Type
Blast:EFh	1	21	6e-9	BLAST
Pfam:Mito_carr	57	150	3.2e-26	PFAM
Pfam:Mito_carr	151	243	3.6e-25	PFAM
Pfam:Mito_carr	249	339	1.5e-16	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	G	T	8: 25,162,136 (GRCm39)	Y46*	probably null	Het
Adam26b	A	C	8: 43,973,524 (GRCm39)	C493G	probably damaging	Het
Ak5	A	T	3: 152,359,252 (GRCm39)	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,498,645 (GRCm39)		probably benign	Het
Amhr2	G	T	15: 102,354,863 (GRCm39)	G133C	probably damaging	Het
Btbd9	A	T	17: 30,743,941 (GRCm39)	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,484,385 (GRCm39)		probably benign	Het
Ccdc138	A	T	10: 58,411,542 (GRCm39)	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,462,407 (GRCm39)		probably benign	Het
Cdc25b	C	A	2: 131,033,533 (GRCm39)	H157Q	probably benign	Het
Cdon	A	G	9: 35,388,379 (GRCm39)		probably null	Het
Cdt1	G	A	8: 123,298,884 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,816,458 (GRCm39)		probably null	Het
Cfb	T	C	17: 35,078,992 (GRCm39)	K831R	probably benign	Het
Cldn4	C	A	5: 134,975,645 (GRCm39)		probably benign	Het
Cntnap5b	T	C	1: 99,999,767 (GRCm39)		probably benign	Het
Cyp27b1	T	G	10: 126,884,967 (GRCm39)	S77A	probably benign	Het
Dlc1	T	C	8: 37,041,203 (GRCm39)	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,603,799 (GRCm39)	H887R	probably damaging	Het
Duox2	A	G	2: 122,123,139 (GRCm39)	I503T	probably damaging	Het
Eml4	T	C	17: 83,770,922 (GRCm39)		probably benign	Het
Ermap	A	G	4: 119,042,888 (GRCm39)	S212P	probably benign	Het
Esrrg	T	A	1: 187,775,538 (GRCm39)	C22S	probably benign	Het
Evx2	T	A	2: 74,488,238 (GRCm39)	Y194F	possibly damaging	Het
Fbn2	T	G	18: 58,191,461 (GRCm39)	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,074,508 (GRCm39)		probably benign	Het
Fndc5	A	G	4: 129,033,630 (GRCm39)		probably benign	Het
Frem1	A	T	4: 82,907,403 (GRCm39)	I837N	probably damaging	Het
Fzd10	G	T	5: 128,679,662 (GRCm39)	A461S	possibly damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,243,926 (GRCm39)		probably null	Het
Gm5919	T	A	9: 83,765,436 (GRCm39)	C91S	unknown	Het
Gpr31b	A	T	17: 13,271,093 (GRCm39)	C25*	probably null	Het
Grb10	A	G	11: 11,886,755 (GRCm39)	S505P	probably damaging	Het
Grm4	A	T	17: 27,654,183 (GRCm39)	V542E	probably damaging	Het
Gsta5	T	C	9: 78,206,303 (GRCm39)	I75T	possibly damaging	Het
Hivep3	G	A	4: 119,954,531 (GRCm39)	R949H	possibly damaging	Het
Hycc1	C	T	5: 24,184,506 (GRCm39)	G242D	probably damaging	Het
Invs	A	T	4: 48,407,653 (GRCm39)	M543L	probably benign	Het
Kcnk2	T	C	1: 188,988,927 (GRCm39)		probably null	Het
Kdm6b	A	T	11: 69,295,844 (GRCm39)	S808T	unknown	Het
Klhl30	C	T	1: 91,283,228 (GRCm39)	R277W	probably damaging	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,671,169 (GRCm39)	H254N	probably benign	Het
Lzts1	A	T	8: 69,588,392 (GRCm39)	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,749,919 (GRCm39)	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,165,184 (GRCm39)	S1411P	probably damaging	Het
Mast2	T	C	4: 116,170,043 (GRCm39)		probably benign	Het
Mesp1	G	T	7: 79,442,328 (GRCm39)	S225R	possibly damaging	Het
Micu1	A	G	10: 59,675,503 (GRCm39)	T366A	possibly damaging	Het
Mideas	G	T	12: 84,205,077 (GRCm39)	N834K	possibly damaging	Het
Mknk2	T	C	10: 80,507,742 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,258,199 (GRCm39)	L309P	probably damaging	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,527,693 (GRCm39)		probably null	Het
Neu4	T	C	1: 93,950,191 (GRCm39)	L50S	probably damaging	Het
Noa1	T	C	5: 77,457,722 (GRCm39)	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,342,390 (GRCm39)	M30K	probably benign	Het
Nsd3	A	G	8: 26,199,096 (GRCm39)	I1219V	probably benign	Het
Nup188	T	A	2: 30,233,478 (GRCm39)		probably null	Het
Or10ag2	T	A	2: 87,248,612 (GRCm39)	Y71*	probably null	Het
Or5al5	A	G	2: 85,961,378 (GRCm39)	S210P	probably damaging	Het
Or6c208	T	A	10: 129,224,162 (GRCm39)	I220N	possibly damaging	Het
Or6k2	A	T	1: 173,986,920 (GRCm39)	T194S	probably benign	Het
Pbk	G	A	14: 66,051,245 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,487,459 (GRCm39)	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,033,914 (GRCm39)	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,546,386 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,766,433 (GRCm39)	S2153G	probably damaging	Het
Potefam1	C	T	2: 111,044,928 (GRCm39)		probably null	Het
Pphln1	G	A	15: 93,318,192 (GRCm39)	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,375,308 (GRCm39)	D1114G	probably damaging	Het
Prss16	T	C	13: 22,193,546 (GRCm39)		probably benign	Het
Rtp3	T	C	9: 110,816,168 (GRCm39)	K128E	probably damaging	Het
Scn3a	T	A	2: 65,355,194 (GRCm39)	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,386,382 (GRCm39)	V336I	probably damaging	Het
Sfpq	A	G	4: 126,916,762 (GRCm39)	I320V	possibly damaging	Het
Skint5	A	T	4: 113,620,679 (GRCm39)	D678E	unknown	Het
Slc12a9	G	A	5: 137,313,638 (GRCm39)	P774S	probably benign	Het
Smarcd1	A	G	15: 99,605,267 (GRCm39)		probably null	Het
Spata31e5	T	A	1: 28,816,011 (GRCm39)	N674Y	probably damaging	Het
Suco	A	T	1: 161,661,683 (GRCm39)	M916K	probably damaging	Het
Tiam2	T	C	17: 3,564,973 (GRCm39)	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333 (GRCm39)	T984A	unknown	Het
Trabd2b	A	T	4: 114,443,767 (GRCm39)	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083 (GRCm39)		probably benign	Het
Trpc3	A	T	3: 36,725,654 (GRCm39)	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uggt2	A	C	14: 119,295,010 (GRCm39)	Y539D	probably benign	Het
Wwc2	T	G	8: 48,353,674 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,344,109 (GRCm39)	D829E	possibly damaging	Het

Other mutations in Slc25a54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slc25a54	APN	3	109,020,176 (GRCm39)	missense	possibly damaging	0.76
IGL02635:Slc25a54	APN	3	109,020,133 (GRCm39)	missense	possibly damaging	0.71
IGL02944:Slc25a54	APN	3	108,987,931 (GRCm39)	missense	probably benign	0.14
IGL02987:Slc25a54	APN	3	109,023,653 (GRCm39)	missense	probably benign
IGL03346:Slc25a54	APN	3	108,993,046 (GRCm39)	intron	probably benign
R0491:Slc25a54	UTSW	3	109,010,112 (GRCm39)	missense	probably damaging	1.00
R0520:Slc25a54	UTSW	3	109,014,546 (GRCm39)	splice site	probably benign
R1803:Slc25a54	UTSW	3	109,010,013 (GRCm39)	missense	probably benign
R1869:Slc25a54	UTSW	3	108,987,932 (GRCm39)	nonsense	probably null
R1870:Slc25a54	UTSW	3	108,987,932 (GRCm39)	nonsense	probably null
R3024:Slc25a54	UTSW	3	108,987,982 (GRCm39)	missense	probably damaging	1.00
R3763:Slc25a54	UTSW	3	109,019,370 (GRCm39)	missense	probably damaging	1.00
R3930:Slc25a54	UTSW	3	109,023,820 (GRCm39)	missense	probably benign	0.03
R3941:Slc25a54	UTSW	3	109,019,479 (GRCm39)	missense	probably damaging	1.00
R4346:Slc25a54	UTSW	3	109,010,055 (GRCm39)	missense	possibly damaging	0.52
R4347:Slc25a54	UTSW	3	109,010,055 (GRCm39)	missense	possibly damaging	0.52
R4445:Slc25a54	UTSW	3	109,005,984 (GRCm39)	missense	probably benign	0.00
R4735:Slc25a54	UTSW	3	109,005,923 (GRCm39)	missense	probably damaging	0.96
R4914:Slc25a54	UTSW	3	109,018,395 (GRCm39)	missense	probably benign	0.34
R4960:Slc25a54	UTSW	3	109,020,132 (GRCm39)	missense	possibly damaging	0.95
R5052:Slc25a54	UTSW	3	109,010,016 (GRCm39)	missense	probably benign	0.03
R5106:Slc25a54	UTSW	3	109,020,180 (GRCm39)	missense	probably benign	0.02
R5806:Slc25a54	UTSW	3	108,987,894 (GRCm39)	missense	probably benign
R5936:Slc25a54	UTSW	3	109,005,954 (GRCm39)	missense	possibly damaging	0.88
R6511:Slc25a54	UTSW	3	109,001,572 (GRCm39)	missense	possibly damaging	0.92
R6532:Slc25a54	UTSW	3	109,019,368 (GRCm39)	missense	probably damaging	1.00
R6879:Slc25a54	UTSW	3	109,020,150 (GRCm39)	missense	possibly damaging	0.94
R7139:Slc25a54	UTSW	3	109,005,905 (GRCm39)	missense	probably damaging	1.00
R7179:Slc25a54	UTSW	3	109,014,573 (GRCm39)	missense	probably benign	0.00
R7282:Slc25a54	UTSW	3	109,023,817 (GRCm39)	nonsense	probably null
R7336:Slc25a54	UTSW	3	109,023,751 (GRCm39)	missense	probably benign	0.00
R7355:Slc25a54	UTSW	3	109,010,085 (GRCm39)	missense	probably damaging	1.00
R7713:Slc25a54	UTSW	3	109,010,133 (GRCm39)	missense	probably damaging	0.99
R8061:Slc25a54	UTSW	3	109,018,361 (GRCm39)	missense	probably damaging	1.00
R8282:Slc25a54	UTSW	3	109,006,005 (GRCm39)	critical splice donor site	probably null
R9095:Slc25a54	UTSW	3	109,019,404 (GRCm39)	missense	probably benign	0.09
R9156:Slc25a54	UTSW	3	109,001,548 (GRCm39)	missense	probably benign	0.03
R9568:Slc25a54	UTSW	3	109,005,932 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc25a54	UTSW	3	109,019,434 (GRCm39)	frame shift	probably null
Z1177:Slc25a54	UTSW	3	109,010,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACATAGGTGATAAAGACCAGGCTG -3'
(R):5'- TGGAGAAGAAAGGACCTTTGATCTTGC -3'

Sequencing Primer
(F):5'- GACCAGGCTGAATTTAAGTAAAACTG -3'
(R):5'- CTGATGCATATCTGGGGCTTAAAAC -3'

Posted On

2013-07-11