Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01838:Slc28a2b'

155016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc28a2b

Ensembl Gene

ENSMUSG00000079071

Gene Name

solute carrier family 28 member 2b

Synonyms

Gm14085

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01838

Quality Score

Status

Chromosome

Chromosomal Location

122315422-122358521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122348464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 270 (F270L)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110521]

AlphaFold

A2AWR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110521
AA Change: F270L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: F270L

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	149	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	253	2.3e-28	PFAM
Pfam:Gate	260	360	1.7e-10	PFAM
Pfam:Nucleos_tra2_C	363	587	4.6e-70	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	C	13: 4,499,035 (GRCm39)	S208P	probably benign	Het
Cpe	G	T	8: 65,047,998 (GRCm39)	T422K	possibly damaging	Het
Dis3l	C	A	9: 64,215,581 (GRCm39)	V888L	probably benign	Het
Dnah7b	T	A	1: 46,397,297 (GRCm39)	Y3909*	probably null	Het
Dnajb8	G	A	6: 88,200,033 (GRCm39)	V190M	possibly damaging	Het
Grip2	A	G	6: 91,741,744 (GRCm39)	V927A	possibly damaging	Het
Hyal3	C	T	9: 107,463,786 (GRCm39)	R304C	possibly damaging	Het
Igkv8-21	A	G	6: 70,292,009 (GRCm39)	S78P	probably damaging	Het
Lrrc7	A	G	3: 157,891,100 (GRCm39)	S356P	probably damaging	Het
Meiob	T	C	17: 25,042,643 (GRCm39)	V157A	possibly damaging	Het
Mrpl48	C	T	7: 100,201,860 (GRCm39)	V35M	probably damaging	Het
Myo9b	T	C	8: 71,787,034 (GRCm39)	Y739H	probably damaging	Het
Nfyb	A	G	10: 82,586,642 (GRCm39)	L174S	probably benign	Het
Prm2	T	C	16: 10,609,672 (GRCm39)		probably benign	Het
Prss50	T	C	9: 110,693,560 (GRCm39)	L432P	probably benign	Het
Raly	T	A	2: 154,701,590 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,587,649 (GRCm39)	M1365K	probably damaging	Het
Spred1	T	G	2: 117,008,062 (GRCm39)	S323A	probably benign	Het
Svep1	T	C	4: 58,121,910 (GRCm39)	E761G	possibly damaging	Het
Thbs3	A	T	3: 89,126,365 (GRCm39)	K229*	probably null	Het
Thoc1	G	A	18: 9,993,386 (GRCm39)	G582S	possibly damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Vmn2r114	T	C	17: 23,515,956 (GRCm39)	T512A	probably benign	Het
Wee1	T	C	7: 109,723,744 (GRCm39)	S220P	probably benign	Het

Other mutations in Slc28a2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Slc28a2b	APN	2	122,347,527 (GRCm39)	missense	probably damaging	0.98
IGL01160:Slc28a2b	APN	2	122,355,277 (GRCm39)	critical splice acceptor site	probably null
IGL01895:Slc28a2b	APN	2	122,355,572 (GRCm39)	missense	possibly damaging	0.75
IGL02999:Slc28a2b	APN	2	122,344,995 (GRCm39)	splice site	probably benign
Wilted	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
K2124:Slc28a2b	UTSW	2	122,355,634 (GRCm39)	missense	probably benign	0.00
R0084:Slc28a2b	UTSW	2	122,353,314 (GRCm39)	missense	possibly damaging	0.95
R0092:Slc28a2b	UTSW	2	122,348,078 (GRCm39)	splice site	probably benign
R0127:Slc28a2b	UTSW	2	122,347,550 (GRCm39)	critical splice donor site	probably null
R0200:Slc28a2b	UTSW	2	122,357,928 (GRCm39)	makesense	probably null
R0276:Slc28a2b	UTSW	2	122,352,409 (GRCm39)	missense	probably damaging	1.00
R0309:Slc28a2b	UTSW	2	122,348,034 (GRCm39)	missense	probably benign	0.04
R0403:Slc28a2b	UTSW	2	122,352,335 (GRCm39)	missense	probably damaging	1.00
R0600:Slc28a2b	UTSW	2	122,344,879 (GRCm39)	missense	probably damaging	0.97
R0612:Slc28a2b	UTSW	2	122,352,179 (GRCm39)	missense	probably damaging	1.00
R1676:Slc28a2b	UTSW	2	122,352,340 (GRCm39)	missense	probably damaging	0.99
R1801:Slc28a2b	UTSW	2	122,352,133 (GRCm39)	missense	possibly damaging	0.57
R1986:Slc28a2b	UTSW	2	122,357,910 (GRCm39)	missense	probably benign	0.00
R2050:Slc28a2b	UTSW	2	122,353,349 (GRCm39)	missense	probably benign	0.21
R3078:Slc28a2b	UTSW	2	122,344,895 (GRCm39)	missense	possibly damaging	0.63
R4075:Slc28a2b	UTSW	2	122,344,892 (GRCm39)	missense	probably benign	0.00
R4096:Slc28a2b	UTSW	2	122,353,209 (GRCm39)	missense	probably damaging	1.00
R4744:Slc28a2b	UTSW	2	122,353,286 (GRCm39)	nonsense	probably null
R4796:Slc28a2b	UTSW	2	122,344,940 (GRCm39)	missense	probably damaging	0.99
R5033:Slc28a2b	UTSW	2	122,353,395 (GRCm39)	critical splice donor site	probably null
R5069:Slc28a2b	UTSW	2	122,324,854 (GRCm39)	missense	possibly damaging	0.93
R5288:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5385:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5386:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5442:Slc28a2b	UTSW	2	122,317,350 (GRCm39)	missense	probably benign
R5795:Slc28a2b	UTSW	2	122,348,475 (GRCm39)	missense	possibly damaging	0.79
R6258:Slc28a2b	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
R6260:Slc28a2b	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
R6383:Slc28a2b	UTSW	2	122,355,288 (GRCm39)	missense	probably benign	0.00
R7226:Slc28a2b	UTSW	2	122,353,013 (GRCm39)	missense	probably benign	0.00
R7574:Slc28a2b	UTSW	2	122,353,325 (GRCm39)	missense	not run
R7633:Slc28a2b	UTSW	2	122,317,161 (GRCm39)	missense	probably null	0.05
R7705:Slc28a2b	UTSW	2	122,352,110 (GRCm39)	critical splice acceptor site	probably null
R7726:Slc28a2b	UTSW	2	122,317,214 (GRCm39)	missense	probably damaging	0.99
R7998:Slc28a2b	UTSW	2	122,324,839 (GRCm39)	missense	probably damaging	0.97
R8269:Slc28a2b	UTSW	2	122,352,169 (GRCm39)	missense	probably damaging	1.00
R8337:Slc28a2b	UTSW	2	122,355,617 (GRCm39)	missense	probably benign	0.06
R8546:Slc28a2b	UTSW	2	122,353,235 (GRCm39)	missense	probably benign	0.14
R8817:Slc28a2b	UTSW	2	122,348,988 (GRCm39)	missense	possibly damaging	0.95
R8931:Slc28a2b	UTSW	2	122,348,983 (GRCm39)	missense
R9070:Slc28a2b	UTSW	2	122,352,154 (GRCm39)	missense	probably damaging	1.00
R9542:Slc28a2b	UTSW	2	122,324,822 (GRCm39)	missense	probably benign	0.26
R9702:Slc28a2b	UTSW	2	122,354,012 (GRCm39)	missense	probably damaging	1.00
R9782:Slc28a2b	UTSW	2	122,352,338 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04