Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Slc25a54'

210620

Institutional Source

Beutler Lab

Gene Symbol

Slc25a54

Ensembl Gene

ENSMUSG00000027880

Gene Name

solute carrier family 25, member 54

Synonyms

4930443G12Rik, SCaMC-1like

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

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

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108987815-109023898 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108987932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 24 (Y24*)

Ref Sequence

ENSEMBL: ENSMUSP00000124484 (fasta)

Gene Model

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

AlphaFold

B1AUS6

Predicted Effect

probably null
Transcript: ENSMUST00000029478
AA Change: Y24*

SMART Domains

Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: Y24*

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 null
Transcript: ENSMUST00000159926
AA Change: Y24*

SMART Domains

Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880
AA Change: Y24*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195936

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bcan	T	C	3: 87,902,908 (GRCm39)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Dnase2a	T	C	8: 85,635,392 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mertk	T	G	2: 128,643,116 (GRCm39)	D838E	probably benign	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,483,021 (GRCm39)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	probably benign	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
R0645:Slc25a54	UTSW	3	109,019,481 (GRCm39)	missense	possibly damaging	0.70
R1803:Slc25a54	UTSW	3	109,010,013 (GRCm39)	missense	probably benign
R1869: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'- CAGTTCTCAAGGTTCCGCAG -3'
(R):5'- ATTTCTGGAAGTGACAGGTCGG -3'

Sequencing Primer
(F):5'- AAGGGGCTCGTGTCTCAG -3'
(R):5'- GCAAGTTGGCTCTGAGCTC -3'

Posted On

2014-06-30