Mutagenetix > Incidental Mutation

Incidental Mutation 'R1307:Slc25a28'

157844

Institutional Source

Beutler Lab

Gene Symbol

Slc25a28

Ensembl Gene

ENSMUSG00000040414

Gene Name

solute carrier family 25, member 28

Synonyms

Mrs3/4, Mfrn2, 2210403D18Rik

MMRRC Submission

039373-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R1307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43652240-43663320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43655470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 135 (N135S)

Ref Sequence

ENSEMBL: ENSMUSP00000036913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046038]

AlphaFold

Q8R0Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000046038
AA Change: N135S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036913
Gene: ENSMUSG00000040414
AA Change: N135S

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
low complexity region	36	48	N/A	INTRINSIC
Pfam:Mito_carr	69	162	6.2e-22	PFAM
Pfam:Mito_carr	167	257	1e-19	PFAM
Pfam:Mito_carr	257	357	2.5e-22	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc1	A	T	10: 59,848,321 (GRCm39)	I83L	probably benign	Het
Bcl2a1b	T	C	9: 89,081,543 (GRCm39)	V44A	probably damaging	Het
Bdp1	T	C	13: 100,186,271 (GRCm39)	D1727G	possibly damaging	Het
Cabp1	A	G	5: 115,310,965 (GRCm39)	F294L	probably damaging	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Gk2	A	T	5: 97,603,268 (GRCm39)	D523E	probably benign	Het
Havcr1	C	T	11: 46,647,097 (GRCm39)	T177I	probably damaging	Het
Kdm4a	T	C	4: 118,032,839 (GRCm39)	T76A	probably benign	Het
Lama4	A	T	10: 38,946,028 (GRCm39)	I804F	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pcdh10	A	G	3: 45,336,314 (GRCm39)	N876S	probably benign	Het
Polr3f	T	C	2: 144,375,113 (GRCm39)	V95A	probably damaging	Het
Ptk2	A	G	15: 73,163,895 (GRCm39)	V389A	probably benign	Het
Rhof	T	C	5: 123,258,378 (GRCm39)	E151G	probably damaging	Het
Sphk1	G	A	11: 116,426,928 (GRCm39)	V295I	probably benign	Het
Sv2b	G	T	7: 74,856,182 (GRCm39)	T36K	probably damaging	Het
Sybu	T	C	15: 44,538,786 (GRCm39)	E291G	probably damaging	Het
Tnc	T	C	4: 63,927,096 (GRCm39)	E810G	probably damaging	Het
Uba52	T	C	8: 70,961,166 (GRCm39)	H68R	probably damaging	Het
Unc79	A	G	12: 103,036,335 (GRCm39)	N552S	probably damaging	Het
Ush2a	T	C	1: 188,090,164 (GRCm39)	C416R	probably damaging	Het
Ush2a	T	C	1: 188,184,037 (GRCm39)	V1447A	probably damaging	Het
Zfp985	C	T	4: 147,667,704 (GRCm39)	L191F	probably benign	Het

Other mutations in Slc25a28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Slc25a28	APN	19	43,652,947 (GRCm39)	missense	probably damaging	1.00
IGL02572:Slc25a28	APN	19	43,652,885 (GRCm39)	missense	probably damaging	1.00
IGL02678:Slc25a28	APN	19	43,655,586 (GRCm39)	splice site	probably benign
R0732:Slc25a28	UTSW	19	43,655,392 (GRCm39)	missense	probably benign	0.00
R3950:Slc25a28	UTSW	19	43,652,708 (GRCm39)	missense	probably benign	0.01
R6057:Slc25a28	UTSW	19	43,655,364 (GRCm39)	missense	possibly damaging	0.69
R6292:Slc25a28	UTSW	19	43,653,031 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GAGGACACTGTGACCTTTGCTGAG -3'
(R):5'- AGATGAGAAGTTACAATCGCCGCC -3'

Sequencing Primer
(F):5'- TCCAAACCATGCGAGGCTG -3'
(R):5'- ACAATCGCCGCCTTTGC -3'

Posted On

2014-02-18