Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Slc28a2b'

21427

Institutional Source

Beutler Lab

Gene Symbol

Slc28a2b

Ensembl Gene

ENSMUSG00000079071

Gene Name

solute carrier family 28 member 2b

Synonyms

Gm14085

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

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

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

122315422-122358521 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 122347550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

probably null
Transcript: ENSMUST00000110521

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071

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

0.9492

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,554,190 (GRCm39)		probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,168,242 (GRCm39)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,831,864 (GRCm39)	R101H	probably benign	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,656,421 (GRCm39)	T885A	possibly damaging	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,560,694 (GRCm39)	D428V	unknown	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	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
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
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'- GCTGAGCAAGGTTTGTAACTCATGC -3'
(R):5'- TGAGCCATGTCCCAAAAGTTGGTC -3'

Sequencing Primer
(F):5'- CTGGGCCTTCAGTTCATCTTTG -3'
(R):5'- GTTGGTCATGAAATGACAGACTC -3'

Posted On

2013-04-11