Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01942:Slc25a28'

180882

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a28

Ensembl Gene

ENSMUSG00000040414

Gene Name

solute carrier family 25, member 28

Synonyms

Mrs3/4, Mfrn2, 2210403D18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01942

Quality Score

Status

Chromosome

Chromosomal Location

43652240-43663320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43652947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 238 (F238S)

Ref Sequence

ENSEMBL: ENSMUSP00000036913 (fasta)

Gene Model

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

AlphaFold

Q8R0Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046038
AA Change: F238S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036913
Gene: ENSMUSG00000040414
AA Change: F238S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,635,997 (GRCm39)	R1017W	possibly damaging	Het
Arhgef26	A	G	3: 62,247,515 (GRCm39)	R200G	probably benign	Het
Arid4b	A	T	13: 14,310,749 (GRCm39)		probably benign	Het
Atp1a2	A	C	1: 172,113,876 (GRCm39)	S369A	probably benign	Het
Bag3	T	A	7: 128,148,024 (GRCm39)	D546E	probably benign	Het
Bcl6b	T	A	11: 70,117,569 (GRCm39)	Y379F	probably damaging	Het
Cbln2	T	C	18: 86,734,450 (GRCm39)	V136A	probably benign	Het
Ccnf	A	T	17: 24,461,294 (GRCm39)	D120E	probably benign	Het
Cd14	T	A	18: 36,858,693 (GRCm39)	H254L	possibly damaging	Het
Chd3	A	G	11: 69,240,931 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,692 (GRCm39)	R150H	probably benign	Het
Dhx35	T	C	2: 158,673,784 (GRCm39)	L405P	probably damaging	Het
Dpf1	G	A	7: 29,015,927 (GRCm39)	C383Y	probably damaging	Het
Dse	T	A	10: 34,031,989 (GRCm39)	Q345L	probably benign	Het
Gnaz	A	G	10: 74,850,706 (GRCm39)	M244V	probably damaging	Het
Gpr65	A	T	12: 98,241,974 (GRCm39)	Y209F	possibly damaging	Het
Inpp5f	T	C	7: 128,269,493 (GRCm39)	I281T	probably damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Mapk8ip2	G	A	15: 89,341,220 (GRCm39)		probably null	Het
Med24	G	A	11: 98,600,508 (GRCm39)	R646W	probably damaging	Het
Nup98	A	T	7: 101,843,918 (GRCm39)	F102Y	probably damaging	Het
Or1n2	A	G	2: 36,797,869 (GRCm39)	M304V	probably benign	Het
Or4c35	G	T	2: 89,808,322 (GRCm39)	V67L	probably benign	Het
Or8g50	A	T	9: 39,648,962 (GRCm39)	M284L	possibly damaging	Het
Pgap3	T	C	11: 98,288,780 (GRCm39)	Y125C	probably damaging	Het
Rasl12	T	C	9: 65,315,644 (GRCm39)	V96A	probably damaging	Het
Rbm20	G	A	19: 53,801,874 (GRCm39)	M127I	probably damaging	Het
Rnf114	T	A	2: 167,354,546 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,269,294 (GRCm39)	T9I	possibly damaging	Het
Setd1b	T	A	5: 123,301,489 (GRCm39)	F16I	possibly damaging	Het
Slc2a2	T	C	3: 28,759,952 (GRCm39)	V30A	probably damaging	Het
Slc35f4	T	C	14: 49,762,962 (GRCm39)		probably benign	Het
Socs4	T	A	14: 47,528,107 (GRCm39)	C347*	probably null	Het
Spock1	C	T	13: 57,578,141 (GRCm39)	E367K	probably damaging	Het
Ubap2	C	T	4: 41,251,608 (GRCm39)	R8H	probably benign	Het
Vmn1r44	T	A	6: 89,870,806 (GRCm39)	M41K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp575	T	C	7: 24,285,240 (GRCm39)	T134A	possibly damaging	Het

Other mutations in Slc25a28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1307:Slc25a28	UTSW	19	43,655,470 (GRCm39)	missense	probably benign	0.28
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

Posted On

2014-05-07