Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Slc28a2b'

506453

Institutional Source

Beutler Lab

Gene Symbol

Slc28a2b

Ensembl Gene

ENSMUSG00000079071

Gene Name

solute carrier family 28 member 2b

Synonyms

Gm14085

MMRRC Submission

044375-MU

Accession Numbers

Essential gene?

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

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122315422-122358521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122353963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 530 (I530F)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110521
AA Change: I530F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: I530F

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

0.8953

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Casr	A	G	16: 36,337,971 (GRCm39)	C60R	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Egflam	T	A	15: 7,263,773 (GRCm39)	T726S	probably damaging	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,409,572 (GRCm39)	R84W	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	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
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
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
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'- GGATAAGGAGTCTGGTGGTATTACC -3'
(R):5'- TGACTGCATTAGCTCTGAGC -3'

Sequencing Primer
(F):5'- CCATATCATGACAATGGTTGTAAGAC -3'
(R):5'- TCTGAGCTACAGGTGGCC -3'

Posted On

2018-03-15