Mutagenetix > Incidental Mutation

Incidental Mutation 'R8408:Slc25a1'

652548

Institutional Source

Beutler Lab

Gene Symbol

Slc25a1

Ensembl Gene

ENSMUSG00000003528

Gene Name

solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1

Synonyms

Slc20a3, Dgsj, 1300019P08Rik, 2610100G11Rik

MMRRC Submission

067815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17743087-17746083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17743720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 298 (D298G)

Ref Sequence

ENSEMBL: ENSMUSP00000003622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003622]

AlphaFold

Q8JZU2

Predicted Effect

probably benign
Transcript: ENSMUST00000003622
AA Change: D298G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: D298G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	21	116	2.1e-22	PFAM
Pfam:Mito_carr	118	213	9.7e-19	PFAM
Pfam:Mito_carr	216	308	5.5e-21	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: D183G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	14	99	1.2e-12	PFAM
Pfam:Mito_carr	102	194	5.7e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,236,356 (GRCm39)	T1236A	possibly damaging	Het
9930111J21Rik1	A	T	11: 48,838,829 (GRCm39)	M586K	probably damaging	Het
Adamts4	T	C	1: 171,080,314 (GRCm39)	V289A	possibly damaging	Het
Ankrd44	A	T	1: 54,762,257 (GRCm39)	D522E	probably benign	Het
Asb14	A	G	14: 26,637,067 (GRCm39)	Y603C	probably damaging	Het
Bcl7b	A	G	5: 135,197,308 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,700,469 (GRCm39)	K345R	possibly damaging	Het
Celsr3	T	C	9: 108,708,988 (GRCm39)	F1278S	probably damaging	Het
Cndp1	T	A	18: 84,650,049 (GRCm39)	T215S	possibly damaging	Het
Crygb	T	G	1: 65,119,709 (GRCm39)	R90S	probably damaging	Het
Dlg4	T	A	11: 69,933,078 (GRCm39)	F555I	possibly damaging	Het
Dnah3	C	T	7: 119,551,728 (GRCm39)	V2864M	probably damaging	Het
Dnttip2	A	G	3: 122,070,351 (GRCm39)	E522G	probably damaging	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Foxp1	G	A	6: 98,922,543 (GRCm39)	P430S	unknown	Het
Galnt1	A	G	18: 24,400,628 (GRCm39)	T245A	probably benign	Het
Gnl2	T	A	4: 124,938,082 (GRCm39)	N287K	probably damaging	Het
Jcad	C	A	18: 4,649,402 (GRCm39)	A91E	possibly damaging	Het
Kat6a	G	A	8: 23,352,275 (GRCm39)	V20I	probably damaging	Het
Kcnb2	A	G	1: 15,781,777 (GRCm39)	N883S	probably damaging	Het
Lrch3	A	T	16: 32,775,750 (GRCm39)	R205S	probably damaging	Het
Lrr1	A	G	12: 69,215,825 (GRCm39)	T66A	probably benign	Het
Lrrc37a	T	A	11: 103,351,635 (GRCm39)	I2569F	unknown	Het
Maip1	A	T	1: 57,449,102 (GRCm39)	Q161L	probably damaging	Het
Neb	T	C	2: 52,047,923 (GRCm39)	E6699G	probably benign	Het
Nup205	A	G	6: 35,202,182 (GRCm39)	R1305G	probably damaging	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Or5ac21	A	T	16: 59,124,418 (GRCm39)	R301*	probably null	Het
Pate1	G	A	9: 35,596,418 (GRCm39)	R116W	probably damaging	Het
Pcsk5	T	G	19: 17,410,809 (GRCm39)	E1861A	probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Per1	A	T	11: 68,999,953 (GRCm39)	D1215V	possibly damaging	Het
Phactr2	A	G	10: 13,129,570 (GRCm39)	S233P	probably damaging	Het
Pramel28	A	G	4: 143,692,212 (GRCm39)	V263A	probably benign	Het
Rgsl1	T	A	1: 153,701,435 (GRCm39)	N340Y	possibly damaging	Het
Rhot1	C	T	11: 80,114,786 (GRCm39)	P65S	probably damaging	Het
Scrn2	T	C	11: 96,921,869 (GRCm39)	L113P	probably damaging	Het
Sema6a	T	C	18: 47,381,958 (GRCm39)	K863R	probably benign	Het
Slc15a1	A	G	14: 121,715,528 (GRCm39)	V337A	possibly damaging	Het
Slc25a22	G	A	7: 141,011,737 (GRCm39)	P168S	probably benign	Het
Slc29a4	A	T	5: 142,691,109 (GRCm39)		probably null	Het
Slc35d1	T	C	4: 103,047,007 (GRCm39)	T264A		Het
Spice1	T	C	16: 44,205,060 (GRCm39)	S789P	probably damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tectb	T	C	19: 55,178,099 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,544,810 (GRCm39)	Y32764F	probably damaging	Het
Utrn	T	G	10: 12,545,887 (GRCm39)	S1684R	possibly damaging	Het
Zic1	G	T	9: 91,246,847 (GRCm39)	A75E	probably damaging	Het
Zswim4	A	G	8: 84,939,014 (GRCm39)	V956A	possibly damaging	Het

Other mutations in Slc25a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Slc25a1	APN	16	17,743,930 (GRCm39)	missense	probably damaging	1.00
IGL01940:Slc25a1	APN	16	17,744,304 (GRCm39)	missense	probably benign	0.00
IGL02076:Slc25a1	APN	16	17,745,490 (GRCm39)	missense	possibly damaging	0.94
IGL02137:Slc25a1	APN	16	17,745,234 (GRCm39)	missense	probably benign	0.14
IGL03399:Slc25a1	APN	16	17,743,684 (GRCm39)	missense	probably damaging	0.97
powerpack	UTSW	16	17,744,138 (GRCm39)	missense	probably benign	0.00
R0744:Slc25a1	UTSW	16	17,745,300 (GRCm39)	missense	probably benign	0.04
R0747:Slc25a1	UTSW	16	17,744,084 (GRCm39)	missense	probably damaging	0.99
R0836:Slc25a1	UTSW	16	17,745,300 (GRCm39)	missense	probably benign	0.04
R0850:Slc25a1	UTSW	16	17,745,145 (GRCm39)	missense	probably benign	0.01
R2290:Slc25a1	UTSW	16	17,743,712 (GRCm39)	missense	possibly damaging	0.92
R2890:Slc25a1	UTSW	16	17,743,963 (GRCm39)	missense	probably damaging	1.00
R6885:Slc25a1	UTSW	16	17,745,294 (GRCm39)	missense	probably benign	0.00
R7503:Slc25a1	UTSW	16	17,744,303 (GRCm39)	nonsense	probably null
R7840:Slc25a1	UTSW	16	17,744,138 (GRCm39)	missense	probably benign	0.00
R8104:Slc25a1	UTSW	16	17,744,297 (GRCm39)	critical splice donor site	probably null
R8987:Slc25a1	UTSW	16	17,743,744 (GRCm39)	missense	probably damaging	1.00
R9022:Slc25a1	UTSW	16	17,745,294 (GRCm39)	missense	probably benign	0.00
R9145:Slc25a1	UTSW	16	17,745,108 (GRCm39)	critical splice donor site	probably null
Z1088:Slc25a1	UTSW	16	17,745,070 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ACCAGGCCACAGAACTTGAG -3'
(R):5'- CTGGAGGCACACAAATACCG -3'

Sequencing Primer
(F):5'- CCACAGAACTTGAGGGACAAAG -3'
(R):5'- CTGCGGCTTGAAGATCCTAAAG -3'

Posted On

2020-10-20