Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Tsta3'

23143

Institutional Source

Beutler Lab

Gene Symbol

Tsta3

Ensembl Gene

ENSMUSG00000022570

Gene Name

tissue specific transplantation antigen P35B

Synonyms

Tstap35b, FX, GDP-fucose synthase

MMRRC Submission

038450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0189 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75924676-75929832 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75926978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 127 (D127Y)

Ref Sequence

ENSEMBL: ENSMUSP00000155711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023231] [ENSMUST00000229085] [ENSMUST00000229289] [ENSMUST00000229641] [ENSMUST00000229951] [ENSMUST00000230303] [ENSMUST00000230364] [ENSMUST00000230736] [ENSMUST00000230610]

AlphaFold

P23591

Predicted Effect

probably damaging
Transcript: ENSMUST00000023231
AA Change: D127Y

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

SMART Domains

Protein: ENSMUSP00000023231
Gene: ENSMUSG00000022570
AA Change: D127Y

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	8	74	1.2e-9	PFAM
Pfam:Epimerase	10	245	1.7e-59	PFAM
Pfam:GDP_Man_Dehyd	37	311	3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229085

Predicted Effect

probably damaging
Transcript: ENSMUST00000229289
AA Change: D98Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229641
AA Change: D127Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229786

Predicted Effect

probably damaging
Transcript: ENSMUST00000229951
AA Change: D127Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229997

Predicted Effect

probably benign
Transcript: ENSMUST00000230303

Predicted Effect

probably benign
Transcript: ENSMUST00000230364

Predicted Effect

probably damaging
Transcript: ENSMUST00000230736
AA Change: D127Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230884

Predicted Effect

probably benign
Transcript: ENSMUST00000230610

Meta Mutation Damage Score

0.7093

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation frequently die in utero, while survivors are smaller than normal, show colon abnormalities, have reduced fertility, and frequently die before weaning. Heterozygotes also show some embryonic loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,096,947	V207A	possibly damaging	Het
Abca9	A	T	11: 110,108,653	W1459R	probably damaging	Het
Abca9	A	T	11: 110,141,662		probably benign	Het
Adam25	T	A	8: 40,755,430	C578S	probably damaging	Het
Adam32	T	A	8: 24,922,337		probably null	Het
Add1	T	C	5: 34,616,648	V67A	probably benign	Het
Aggf1	A	T	13: 95,356,480		probably benign	Het
Ahcyl2	A	T	6: 29,891,243	I449F	probably benign	Het
Ak6	A	G	13: 100,655,142	Y31C	probably damaging	Het
Akap6	T	C	12: 53,141,254	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,928,850	P964T	probably damaging	Het
Atxn7l3b	A	T	10: 112,928,580	L48Q	possibly damaging	Het
Bbs10	T	G	10: 111,301,065	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,705,764	T164I	probably damaging	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Ccdc110	T	A	8: 45,935,082	D25E	probably damaging	Het
Ccdc83	T	A	7: 90,226,683	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,153,251	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,652,446	D313G	probably damaging	Het
Dlgap5	T	A	14: 47,412,975		probably null	Het
Dusp3	A	T	11: 101,981,721	I83N	probably damaging	Het
Eea1	A	T	10: 95,995,582	K178N	possibly damaging	Het
Efr3b	T	A	12: 3,982,925	D144V	probably damaging	Het
Gm1110	T	A	9: 26,883,218	E504V	probably null	Het
Got2	T	C	8: 95,888,253	H18R	probably benign	Het
Gprc5b	T	C	7: 118,983,633	M338V	probably benign	Het
Has2	A	T	15: 56,668,435	F295I	probably damaging	Het
Hcn3	T	C	3: 89,148,800	D519G	probably damaging	Het
Ino80	T	A	2: 119,379,679	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,413,562		probably benign	Het
Kif3c	T	A	12: 3,365,989	S3R	probably benign	Het
Krt17	A	G	11: 100,260,619	I116T	possibly damaging	Het
Lrba	T	C	3: 86,368,509	V1728A	probably damaging	Het
Map3k6	G	T	4: 133,246,941	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,788,471	V803A	probably damaging	Het
Med13	A	G	11: 86,319,876	V480A	probably benign	Het
Msh5	T	C	17: 35,029,654	E772G	probably null	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,304,740	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,724,235	T34A	probably benign	Het
Nipal3	A	T	4: 135,468,518	I258N	possibly damaging	Het
Nup54	A	G	5: 92,422,564	V328A	probably damaging	Het
Olfr1410	T	C	1: 92,607,893	F19L	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr615	G	T	7: 103,561,082	V202F	probably benign	Het
Olfr763	T	A	10: 129,011,322	F12L	possibly damaging	Het
Olfr923	T	A	9: 38,827,815	Y41*	probably null	Het
Oprm1	T	C	10: 6,789,071	V66A	possibly damaging	Het
Peg12	G	A	7: 62,463,548	T267I	unknown	Het
Phf20	A	G	2: 156,303,141	S890G	probably benign	Het
Plk2	C	T	13: 110,399,463	T567M	probably damaging	Het
Pola2	A	T	19: 5,942,342		probably benign	Het
Ppp1r12b	A	G	1: 134,865,776		probably null	Het
Prickle1	A	T	15: 93,503,019	L528*	probably null	Het
Prpf6	T	A	2: 181,655,457	N903K	probably benign	Het
Ptprc	G	A	1: 138,082,715	A601V	probably benign	Het
Ranbp1	A	T	16: 18,241,743		probably null	Het
Rapgef6	C	T	11: 54,691,249	S1334L	probably benign	Het
Rgs2	T	C	1: 144,002,284		probably null	Het
Ripk2	A	T	4: 16,129,125		probably null	Het
Rnf17	A	G	14: 56,482,193	S967G	probably null	Het
Rock2	T	A	12: 16,959,516		probably benign	Het
Rpusd3	C	T	6: 113,415,553		probably null	Het
Scgb1b20	G	T	7: 33,373,510	V48L	probably benign	Het
Sec16a	T	A	2: 26,424,414		probably null	Het
Serpina5	T	A	12: 104,103,330	L267H	probably damaging	Het
Slc12a3	C	T	8: 94,356,358	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,581,914	S745P	probably benign	Het
Sucla2	T	C	14: 73,592,648	V375A	probably damaging	Het
Sun2	C	A	15: 79,737,076	V213F	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424	R129C	probably damaging	Het
Taf6	T	C	5: 138,182,713	E202G	probably benign	Het
Tex21	T	A	12: 76,239,533	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620	S503G	probably benign	Het
Tmem184c	C	T	8: 77,597,812	V350I	possibly damaging	Het
Tnks1bp1	A	G	2: 85,070,929	S960G	possibly damaging	Het
Trbc2	T	C	6: 41,548,149		probably benign	Het
Tubgcp2	A	T	7: 140,001,605		probably benign	Het
Vmn1r39	T	A	6: 66,805,197	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,610,700	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,725,264	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,382,239	H181L	possibly damaging	Het

Other mutations in Tsta3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Tsta3	APN	15	75926185	missense	probably damaging	0.99
IGL02674:Tsta3	APN	15	75926389	missense	probably damaging	1.00
IGL02830:Tsta3	APN	15	75925588	missense	probably benign	0.00
R0671:Tsta3	UTSW	15	75928958	missense	possibly damaging	0.61
R1878:Tsta3	UTSW	15	75925369	missense	probably benign	0.12
R1885:Tsta3	UTSW	15	75926989	missense	possibly damaging	0.89
R1886:Tsta3	UTSW	15	75926989	missense	possibly damaging	0.89
R1912:Tsta3	UTSW	15	75925649	missense	possibly damaging	0.81
R2116:Tsta3	UTSW	15	75926142	missense	probably damaging	1.00
R2393:Tsta3	UTSW	15	75926351	missense	probably damaging	1.00
R9312:Tsta3	UTSW	15	75925320	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCACCTGTTCTGCACGTCAATC -3'
(R):5'- TCAAATCCATAGGCACAGATGGCAC -3'

Sequencing Primer
(F):5'- AATCATCCTCTTGGCGTATGAG -3'
(R):5'- AGATGGCACTCATATCTGAGC -3'

Posted On

2013-04-16