Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Itgb3'

283896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb3

Ensembl Gene

ENSMUSG00000020689

Gene Name

integrin beta 3

Synonyms

platelet glycoprotein IIIa (GP3A), CD61

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

104498826-104561302 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104534765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 541 (I541V)

Ref Sequence

ENSEMBL: ENSMUSP00000021028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021028]

AlphaFold

O54890

Predicted Effect

probably benign
Transcript: ENSMUST00000021028
AA Change: I541V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: I541V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
PSI	29	75	4.43e-5	SMART
INB	37	460	3.16e-276	SMART
VWA	136	395	8.65e-2	SMART
Pfam:EGF_2	511	546	6.8e-7	PFAM
Pfam:EGF_2	553	583	8.1e-7	PFAM
Integrin_B_tail	633	717	1.07e-28	SMART
Integrin_b_cyt	741	787	1.78e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127140

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Itgb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Itgb3	APN	11	104,524,410 (GRCm39)	missense	probably damaging	1.00
IGL01460:Itgb3	APN	11	104,553,220 (GRCm39)	nonsense	probably null
IGL01615:Itgb3	APN	11	104,534,791 (GRCm39)	missense	probably damaging	1.00
IGL01669:Itgb3	APN	11	104,524,216 (GRCm39)	splice site	probably benign
IGL02057:Itgb3	APN	11	104,523,174 (GRCm39)	missense	probably damaging	1.00
IGL02604:Itgb3	APN	11	104,553,269 (GRCm39)	missense	probably damaging	0.99
IGL02708:Itgb3	APN	11	104,528,655 (GRCm39)	missense	possibly damaging	0.60
IGL02901:Itgb3	APN	11	104,528,772 (GRCm39)	missense	probably benign	0.18
IGL03288:Itgb3	APN	11	104,524,293 (GRCm39)	missense	probably damaging	1.00
R0042:Itgb3	UTSW	11	104,557,966 (GRCm39)	missense	possibly damaging	0.80
R0042:Itgb3	UTSW	11	104,557,966 (GRCm39)	missense	possibly damaging	0.80
R0123:Itgb3	UTSW	11	104,527,914 (GRCm39)	missense	probably damaging	1.00
R0125:Itgb3	UTSW	11	104,534,789 (GRCm39)	missense	probably damaging	1.00
R0637:Itgb3	UTSW	11	104,549,702 (GRCm39)	missense	probably benign	0.02
R2017:Itgb3	UTSW	11	104,528,788 (GRCm39)	missense	possibly damaging	0.70
R2045:Itgb3	UTSW	11	104,514,239 (GRCm39)	missense	probably benign
R2200:Itgb3	UTSW	11	104,531,812 (GRCm39)	splice site	probably null
R2225:Itgb3	UTSW	11	104,556,336 (GRCm39)	missense	probably benign	0.00
R2429:Itgb3	UTSW	11	104,527,914 (GRCm39)	missense	probably damaging	1.00
R3820:Itgb3	UTSW	11	104,524,438 (GRCm39)	nonsense	probably null
R4863:Itgb3	UTSW	11	104,556,346 (GRCm39)	missense	probably damaging	1.00
R5116:Itgb3	UTSW	11	104,531,903 (GRCm39)	missense	probably benign	0.20
R5301:Itgb3	UTSW	11	104,524,480 (GRCm39)	splice site	probably null
R5933:Itgb3	UTSW	11	104,528,805 (GRCm39)	missense	possibly damaging	0.63
R6361:Itgb3	UTSW	11	104,556,408 (GRCm39)	missense	possibly damaging	0.72
R6436:Itgb3	UTSW	11	104,524,318 (GRCm39)	missense	probably damaging	0.99
R6452:Itgb3	UTSW	11	104,524,290 (GRCm39)	nonsense	probably null
R7196:Itgb3	UTSW	11	104,524,438 (GRCm39)	nonsense	probably null
R7438:Itgb3	UTSW	11	104,534,403 (GRCm39)	missense	possibly damaging	0.90
R8006:Itgb3	UTSW	11	104,556,322 (GRCm39)	missense	possibly damaging	0.56
R8068:Itgb3	UTSW	11	104,556,337 (GRCm39)	missense	probably benign	0.35
R8378:Itgb3	UTSW	11	104,533,142 (GRCm39)	missense	possibly damaging	0.95
R9052:Itgb3	UTSW	11	104,524,413 (GRCm39)	missense	probably damaging	1.00
R9055:Itgb3	UTSW	11	104,556,451 (GRCm39)	nonsense	probably null
Z1176:Itgb3	UTSW	11	104,534,449 (GRCm39)	missense	possibly damaging	0.46

Posted On

2015-04-16