Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02056:Itgb2l'

185241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb2l

Ensembl Gene

ENSMUSG00000000157

Gene Name

integrin beta 2-like

Synonyms

pactolus, 5033406G21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02056

Quality Score

Status

Chromosome

Chromosomal Location

96422288-96443619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96427689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 438 (E438G)

Ref Sequence

ENSEMBL: ENSMUSP00000109403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113795] [ENSMUST00000131567]

AlphaFold

Q3UV74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000161
AA Change: E438G

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: E438G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF_like	24	63	3.95e1	SMART
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART
EGF_like	553	585	4.64e1	SMART
Integrin_B_tail	594	669	1.22e-9	SMART
transmembrane domain	672	694	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113773
AA Change: E438G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: E438G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF_like	24	63	3.95e1	SMART
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART
EGF_like	553	585	4.64e1	SMART
Integrin_B_tail	594	669	1.22e-9	SMART
transmembrane domain	672	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113795

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	125	4.74e-5	SMART
transmembrane domain	139	161	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131567
AA Change: E438G

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: E438G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131777

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display normal leukocyte development and normal neutrophil recruitment to inflamed tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	A	3: 92,868,893	Q161L	probably benign	Het
Atg101	T	C	15: 101,290,337	S108P	probably damaging	Het
BB014433	A	T	8: 15,042,435	C139*	probably null	Het
Cacna1s	A	G	1: 136,119,000	N1808S	probably benign	Het
Ccdc148	A	G	2: 59,004,069		probably benign	Het
Dnah7a	T	G	1: 53,504,342	N2223T	probably benign	Het
Fgl2	T	A	5: 21,375,545	I295K	probably damaging	Het
Foxj3	T	C	4: 119,585,757	I126T	probably damaging	Het
Gm4540	T	A	3: 106,034,740		probably benign	Het
Hps5	T	G	7: 46,788,182	K156N	probably damaging	Het
Hsp90aa1	T	C	12: 110,694,015		probably benign	Het
Il12rb1	C	T	8: 70,811,187	R131*	probably null	Het
Nbeal2	A	T	9: 110,627,324	L2379Q	probably benign	Het
Neurl4	T	C	11: 69,905,790	V481A	probably damaging	Het
Nos1ap	A	G	1: 170,318,623	F454S	possibly damaging	Het
Pik3r5	G	T	11: 68,490,855	G242C	possibly damaging	Het
Pkd1l3	A	G	8: 109,631,378	N834S	probably benign	Het
Prkar2b	A	G	12: 31,975,910		probably benign	Het
Pusl1	T	C	4: 155,890,572	T191A	probably benign	Het
Rasal2	A	G	1: 157,299,261	V51A	probably damaging	Het
Rsc1a1	T	A	4: 141,685,485	I39F	probably benign	Het
Slc2a3	G	A	6: 122,735,478	P269L	probably damaging	Het
Sntb1	C	T	15: 55,648,039	G383D	possibly damaging	Het
Washc5	T	C	15: 59,350,336	T547A	possibly damaging	Het
Zfr	T	C	15: 12,154,447	V572A	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	Het

Other mutations in Itgb2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Itgb2l	APN	16	96426750	missense	probably damaging	0.98
IGL01482:Itgb2l	APN	16	96438748	missense	probably damaging	0.99
IGL01767:Itgb2l	APN	16	96430575	missense	probably benign	0.05
IGL02072:Itgb2l	APN	16	96430608	missense	probably benign
IGL02858:Itgb2l	APN	16	96422650	missense	possibly damaging	0.96
R0011:Itgb2l	UTSW	16	96427661	splice site	probably benign
R0153:Itgb2l	UTSW	16	96437369	missense	possibly damaging	0.94
R0270:Itgb2l	UTSW	16	96422930	unclassified	probably benign
R0496:Itgb2l	UTSW	16	96434701	missense	possibly damaging	0.86
R0627:Itgb2l	UTSW	16	96422911	unclassified	probably benign
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1509:Itgb2l	UTSW	16	96426849	missense	probably benign	0.28
R1792:Itgb2l	UTSW	16	96425082	missense	probably damaging	1.00
R1912:Itgb2l	UTSW	16	96426935	missense	probably benign	0.17
R2210:Itgb2l	UTSW	16	96426221	missense	possibly damaging	0.82
R3160:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R3162:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R3836:Itgb2l	UTSW	16	96426167	missense	probably benign
R4131:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R4132:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R4254:Itgb2l	UTSW	16	96430577	missense	probably benign	0.00
R4854:Itgb2l	UTSW	16	96426117	nonsense	probably null
R4893:Itgb2l	UTSW	16	96427821	missense	probably benign	0.12
R4931:Itgb2l	UTSW	16	96437449	missense	probably damaging	1.00
R5039:Itgb2l	UTSW	16	96425005	missense	possibly damaging	0.69
R5055:Itgb2l	UTSW	16	96427803	missense	probably damaging	1.00
R5960:Itgb2l	UTSW	16	96426259	missense	probably benign	0.00
R6412:Itgb2l	UTSW	16	96427729	missense	probably benign	0.04
R6966:Itgb2l	UTSW	16	96430643	missense	probably benign	0.02
R7149:Itgb2l	UTSW	16	96433559	missense	probably damaging	1.00
R7278:Itgb2l	UTSW	16	96429043	missense	probably damaging	1.00
R7293:Itgb2l	UTSW	16	96426796	nonsense	probably null
R7482:Itgb2l	UTSW	16	96426833	missense	probably benign	0.01
R7570:Itgb2l	UTSW	16	96426239	missense	probably benign	0.00
R7743:Itgb2l	UTSW	16	96437408	missense	probably damaging	1.00
R7771:Itgb2l	UTSW	16	96426972	missense	probably damaging	1.00
R8446:Itgb2l	UTSW	16	96432657	missense	probably damaging	1.00
X0018:Itgb2l	UTSW	16	96435676	missense	probably benign	0.01
Z1177:Itgb2l	UTSW	16	96437356	missense	probably damaging	1.00

Posted On

2014-05-07