Mutagenetix > Incidental Mutation

Incidental Mutation 'R1397:Slc25a48'

160197

Institutional Source

Beutler Lab

Gene Symbol

Slc25a48

Ensembl Gene

ENSMUSG00000021509

Gene Name

solute carrier family 25, member 48

Synonyms

MMRRC Submission

039459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1397 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 56612864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 254 (D254A)

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021971]

AlphaFold

Q8BW66

Predicted Effect

probably damaging
Transcript: ENSMUST00000021971
AA Change: D254A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509
AA Change: D254A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	3	91	5.3e-20	PFAM
Pfam:Mito_carr	101	204	3.3e-17	PFAM
Pfam:Mito_carr	208	301	1.3e-23	PFAM

Meta Mutation Damage Score

0.2734

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,504,733 (GRCm39)	E1222G	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ankmy2	T	C	12: 36,220,440 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,271,754 (GRCm39)	G827D	probably damaging	Het
Chrac1	A	G	15: 72,962,293 (GRCm39)	D3G	possibly damaging	Het
Dmrtb1	G	C	4: 107,534,236 (GRCm39)	P349R	probably damaging	Het
Drd1	A	G	13: 54,207,573 (GRCm39)	Y207H	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l3	T	A	17: 69,569,343 (GRCm39)		probably null	Het
Fam13b	C	T	18: 34,578,636 (GRCm39)	M705I	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Iqgap2	A	G	13: 95,768,673 (GRCm39)	I1409T	probably benign	Het
Itih1	C	T	14: 30,651,862 (GRCm39)		probably benign	Het
Itih5	A	T	2: 10,245,618 (GRCm39)	D569V	probably benign	Het
Krt9	A	T	11: 100,083,464 (GRCm39)	L189Q	probably damaging	Het
Mfsd11	T	C	11: 116,764,123 (GRCm39)	F368S	probably damaging	Het
Neb	C	A	2: 52,133,955 (GRCm39)	V3343F	probably damaging	Het
Nfe2l3	T	C	6: 51,410,274 (GRCm39)	S130P	probably benign	Het
Nid1	G	A	13: 13,683,380 (GRCm39)	A1153T	possibly damaging	Het
Nr2c2	T	C	6: 92,126,745 (GRCm39)	I78T	probably benign	Het
Nrp1	T	G	8: 129,145,197 (GRCm39)	Y84*	probably null	Het
Pate2	T	A	9: 35,580,991 (GRCm39)	F2I	probably damaging	Het
Pign	A	G	1: 105,585,496 (GRCm39)	S18P	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Rabl3	C	T	16: 37,360,336 (GRCm39)		probably benign	Het
Rhbg	C	T	3: 88,155,753 (GRCm39)	V66I	probably benign	Het
Rimkla	C	T	4: 119,325,308 (GRCm39)	G367E	probably benign	Het
Rnpepl1	C	A	1: 92,844,881 (GRCm39)	T391N	probably damaging	Het
Rnps1	C	T	17: 24,631,031 (GRCm39)		probably benign	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Slc28a2	T	A	2: 122,291,012 (GRCm39)	C659*	probably null	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31d1a	C	T	13: 59,852,853 (GRCm39)		probably benign	Het
Srrm1	A	C	4: 135,048,742 (GRCm39)		probably benign	Het
Srrt	A	G	5: 137,298,523 (GRCm39)	V247A	possibly damaging	Het
Tnks2	T	C	19: 36,857,901 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,217,750 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,247,674 (GRCm39)	I341F	probably damaging	Het
Trim55	T	C	3: 19,698,801 (GRCm39)	F10S	probably benign	Het
Trpm1	T	C	7: 63,867,406 (GRCm39)	W369R	probably damaging	Het
Vps13d	C	T	4: 144,867,904 (GRCm39)	R1976H	probably damaging	Het

Other mutations in Slc25a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Slc25a48	APN	13	56,612,758 (GRCm39)	splice site	probably benign
IGL01746:Slc25a48	APN	13	56,618,166 (GRCm39)	missense	probably damaging	0.99
IGL03209:Slc25a48	APN	13	56,618,272 (GRCm39)	missense	probably benign	0.00
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0550:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably benign	0.03
R1426:Slc25a48	UTSW	13	56,596,804 (GRCm39)	splice site	probably benign
R1621:Slc25a48	UTSW	13	56,618,283 (GRCm39)	makesense	probably null
R1937:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably damaging	0.99
R4710:Slc25a48	UTSW	13	56,611,379 (GRCm39)	missense	probably damaging	0.97
R4735:Slc25a48	UTSW	13	56,596,887 (GRCm39)	splice site	probably null
R6107:Slc25a48	UTSW	13	56,612,891 (GRCm39)	missense	probably damaging	1.00
R7960:Slc25a48	UTSW	13	56,611,411 (GRCm39)	missense	probably damaging	0.99
R8695:Slc25a48	UTSW	13	56,612,825 (GRCm39)	missense	probably damaging	1.00
R8939:Slc25a48	UTSW	13	56,611,519 (GRCm39)	missense	probably damaging	0.98
R9278:Slc25a48	UTSW	13	56,611,552 (GRCm39)	missense	probably benign
Z1176:Slc25a48	UTSW	13	56,598,987 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTGGGAGACTACAGAAGCAGTCGC -3'
(R):5'- AGGGGAGAGGTCCCATCTACAAAC -3'

Sequencing Primer
(F):5'- GAGGATCAGAAGTCATGTTCCCC -3'
(R):5'- GGAGAGGTCCCATCTACAAACTTAAC -3'

Posted On

2014-03-14