Mutagenetix > Incidental Mutation

Incidental Mutation 'R0084:Slc28a2b'

163254

Institutional Source

Beutler Lab

Gene Symbol

Slc28a2b

Ensembl Gene

ENSMUSG00000079071

Gene Name

solute carrier family 28 member 2b

Synonyms

Gm14085

MMRRC Submission

038371-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122315422-122358521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122353314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 498 (Y498C)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110521
AA Change: Y498C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: Y498C

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

Meta Mutation Damage Score

0.7823

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.5%
20x: 86.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,927,423 (GRCm39)		probably benign	Het
Abcc9	A	G	6: 142,604,277 (GRCm39)	Y653H	probably damaging	Het
Acp3	A	T	9: 104,191,564 (GRCm39)	S241T	probably benign	Het
Acvr1	A	G	2: 58,348,895 (GRCm39)		probably null	Het
Adgb	T	C	10: 10,272,088 (GRCm39)	N832S	possibly damaging	Het
AI182371	A	G	2: 34,975,714 (GRCm39)		probably null	Het
Anapc1	G	A	2: 128,465,886 (GRCm39)		probably benign	Het
Apba1	T	C	19: 23,889,861 (GRCm39)	S420P	possibly damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bpifb2	A	T	2: 153,733,011 (GRCm39)	M365L	probably benign	Het
Btnl9	A	T	11: 49,069,606 (GRCm39)	N224K	possibly damaging	Het
Cntn1	A	T	15: 92,215,798 (GRCm39)	I944L	probably benign	Het
Cpa3	T	C	3: 20,296,265 (GRCm39)		probably benign	Het
Dcaf11	C	T	14: 55,806,700 (GRCm39)	R468C	probably benign	Het
E4f1	T	C	17: 24,663,056 (GRCm39)	T750A	possibly damaging	Het
Ercc5	A	G	1: 44,215,136 (GRCm39)	K890E	possibly damaging	Het
Fbrsl1	A	G	5: 110,527,381 (GRCm39)	L262P	probably damaging	Het
Flnb	A	G	14: 7,935,979 (GRCm38)	D2273G	probably benign	Het
Gm9848	A	T	13: 113,244,776 (GRCm39)		noncoding transcript	Het
Hcrtr1	T	A	4: 130,031,059 (GRCm39)	H75L	possibly damaging	Het
Heatr9	A	T	11: 83,403,721 (GRCm39)		probably benign	Het
Htatip2	G	A	7: 49,409,420 (GRCm39)	G58D	probably damaging	Het
Jkampl	A	T	6: 73,445,918 (GRCm39)	Y210*	probably null	Het
Lmntd1	G	A	6: 145,350,254 (GRCm39)	H234Y	unknown	Het
Ly6g2	T	A	15: 75,089,624 (GRCm39)	M44K	probably benign	Het
Map4k3	T	C	17: 80,963,343 (GRCm39)	K85E	possibly damaging	Het
Moxd2	T	C	6: 40,856,342 (GRCm39)	D510G	probably null	Het
Mpv17l2	A	T	8: 71,217,190 (GRCm39)		probably benign	Het
Nbeal2	A	G	9: 110,472,778 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 26,967,407 (GRCm39)	D581G	probably damaging	Het
Ndufb5	T	C	3: 32,791,352 (GRCm39)	V33A	probably benign	Het
Or10a49	A	T	7: 108,468,007 (GRCm39)	M118K	probably damaging	Het
Osbpl1a	T	C	18: 12,890,669 (GRCm39)	T524A	probably benign	Het
Otogl	A	C	10: 107,737,202 (GRCm39)	S71A	probably damaging	Het
Ovol2	G	T	2: 144,147,808 (GRCm39)	N180K	probably damaging	Het
Pam	A	G	1: 97,823,774 (GRCm39)	V219A	probably benign	Het
Paox	C	T	7: 139,712,359 (GRCm39)	R197*	probably null	Het
Pax2	T	A	19: 44,806,874 (GRCm39)	Y290N	probably damaging	Het
Pik3ca	T	C	3: 32,516,937 (GRCm39)	M933T	possibly damaging	Het
Ppfia4	G	T	1: 134,227,164 (GRCm39)	R1124S	possibly damaging	Het
Prkch	T	C	12: 73,744,761 (GRCm39)	F258S	possibly damaging	Het
Rhob	G	A	12: 8,549,107 (GRCm39)	R176C	probably benign	Het
Sbf2	A	T	7: 110,041,573 (GRCm39)	I326N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,041 (GRCm39)	E45D	probably benign	Het
Scube3	T	A	17: 28,381,935 (GRCm39)	D320E	probably benign	Het
Serpina1f	A	G	12: 103,659,847 (GRCm39)	V145A	possibly damaging	Het
Slc6a5	A	C	7: 49,579,761 (GRCm39)	I380L	probably benign	Het
Spag16	A	G	1: 70,035,998 (GRCm39)	N342S	probably benign	Het
Spata16	A	G	3: 26,721,559 (GRCm39)	T27A	possibly damaging	Het
Spock3	A	C	8: 63,596,963 (GRCm39)	K89T	probably damaging	Het
Tbc1d1	T	C	5: 64,481,797 (GRCm39)	V795A	probably damaging	Het
Tirap	G	T	9: 35,100,458 (GRCm39)	H75Q	probably benign	Het
Tpk1	C	A	6: 43,323,763 (GRCm39)	V229L	possibly damaging	Het
Tshz2	A	G	2: 169,726,286 (GRCm39)	H294R	probably damaging	Het
Ttn	A	T	2: 76,703,043 (GRCm39)		probably benign	Het
Unc13d	C	T	11: 115,954,657 (GRCm39)	V984M	probably damaging	Het
Zbtb43	A	T	2: 33,343,996 (GRCm39)	Y373N	probably damaging	Het
Zfp646	T	A	7: 127,480,476 (GRCm39)	H884Q	possibly damaging	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
IGL01838:Slc28a2b	APN	2	122,348,464 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- CTGACCCTCAGTAAGCTGAAAGCC -3'
(R):5'- GCTTGGGTCCTGCCAAATATGCTTC -3'

Sequencing Primer
(F):5'- TGTCTGGAGCAGCTCCTG -3'
(R):5'- TCTCATGCATAGGCTGGGAC -3'

Posted On

2014-03-19