Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02674:Tsta3'

303045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsta3

Ensembl Gene

ENSMUSG00000022570

Gene Name

tissue specific transplantation antigen P35B

Synonyms

Tstap35b, FX, GDP-fucose synthase

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02674

Quality Score

Status

Chromosome

Chromosomal Location

75924676-75929832 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75926389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 178 (D178G)

Ref Sequence

ENSEMBL: ENSMUSP00000155139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023231] [ENSMUST00000053918] [ENSMUST00000229085] [ENSMUST00000229289] [ENSMUST00000229641] [ENSMUST00000229951] [ENSMUST00000230303] [ENSMUST00000230364] [ENSMUST00000230736] [ENSMUST00000230610]

AlphaFold

P23591

Predicted Effect

probably damaging
Transcript: ENSMUST00000023231
AA Change: D178G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023231
Gene: ENSMUSG00000022570
AA Change: D178G

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: ENSMUST00000053918

SMART Domains

Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	10	104	1.2e-17	PFAM
Pfam:P5CR_dimer	166	270	5.2e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229085

Predicted Effect

probably damaging
Transcript: ENSMUST00000229289
AA Change: D149G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229641
AA Change: D178G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229786

Predicted Effect

probably benign
Transcript: ENSMUST00000229951
AA Change: T197A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229997

Predicted Effect

probably benign
Transcript: ENSMUST00000230303

Predicted Effect

probably benign
Transcript: ENSMUST00000230364

Predicted Effect

probably benign
Transcript: ENSMUST00000230736
AA Change: T173A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000230610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230884

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	C	15: 73,111,794	R689G	probably damaging	Het
Agrn	C	T	4: 156,174,561		probably benign	Het
Akna	A	T	4: 63,370,944	C1247*	probably null	Het
Appl1	T	G	14: 26,949,461	T345P	possibly damaging	Het
Ccdc129	A	G	6: 55,897,928	T288A	probably benign	Het
Chga	A	G	12: 102,562,901	D379G	probably damaging	Het
Chrna6	C	T	8: 27,406,851	A333T	probably benign	Het
Col14a1	G	A	15: 55,418,782	G813E	unknown	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnhd1	A	G	7: 105,721,481	Q4656R	probably benign	Het
Dock9	A	C	14: 121,595,611		probably null	Het
Fat4	A	G	3: 38,983,337	N3713D	probably benign	Het
Fsd1	A	T	17: 55,996,483	T452S	probably benign	Het
G6pc2	A	G	2: 69,226,566		probably null	Het
Kcnh4	C	A	11: 100,746,894	V646L	possibly damaging	Het
Kcnk1	T	C	8: 126,025,014	Y120H	probably damaging	Het
L3mbtl3	C	T	10: 26,282,813	E646K	unknown	Het
Lrrc4c	T	C	2: 97,629,775	W249R	probably damaging	Het
Meox1	A	T	11: 101,893,941	L22H	probably damaging	Het
Mrgpra4	C	T	7: 47,980,942	V304M	probably benign	Het
Ncaph	T	C	2: 127,113,576	Y554C	probably damaging	Het
Nfx1	T	C	4: 40,999,717		probably null	Het
Olfr796	A	C	10: 129,608,070	M137R	possibly damaging	Het
Olfr970	A	G	9: 39,819,638		probably null	Het
Otol1	C	T	3: 70,018,744	P84L	probably benign	Het
Pcdhb11	T	C	18: 37,423,614	S666P	probably damaging	Het
Pou2f3	T	C	9: 43,139,333	K244R	probably damaging	Het
Ppp6r1	T	C	7: 4,646,813	N51S	probably damaging	Het
Prdm4	A	T	10: 85,893,399	L715M	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Rsc1a1	G	T	4: 141,684,095	P502Q	probably damaging	Het
Senp1	T	C	15: 98,056,959	E448G	probably damaging	Het
Shd	A	G	17: 55,971,554	D39G	possibly damaging	Het
Skint5	A	C	4: 113,630,385		probably benign	Het
Tmprss15	T	G	16: 79,001,794	T667P	possibly damaging	Het
Vps13b	A	T	15: 35,639,958	M1325L	probably benign	Het
Zfp263	T	C	16: 3,746,765		probably benign	Het
Zfp786	A	G	6: 47,820,493	F504L	probably benign	Het

Other mutations in Tsta3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Tsta3	APN	15	75926185	missense	probably damaging	0.99
IGL02830:Tsta3	APN	15	75925588	missense	probably benign	0.00
R0189:Tsta3	UTSW	15	75926978	missense	probably damaging	1.00
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

Posted On

2015-04-16