Incidental Mutation 'IGL02088:Itfg2'
ID279315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itfg2
Ensembl Gene ENSMUSG00000001518
Gene Nameintegrin alpha FG-GAP repeat containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02088
Quality Score
Status
Chromosome6
Chromosomal Location128409444-128424931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128411606 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 306 (V306A)
Ref Sequence ENSEMBL: ENSMUSP00000145323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000203026] [ENSMUST00000203374] [ENSMUST00000203853] [ENSMUST00000204836] [ENSMUST00000204223]
Predicted Effect probably benign
Transcript: ENSMUST00000001559
AA Change: V338A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: V338A

DomainStartEndE-ValueType
Pfam:Itfg2 49 382 1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000001561
SMART Domains Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 88 203 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120405
SMART Domains Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 88 202 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123867
SMART Domains Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 105 218 4.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136631
Predicted Effect probably benign
Transcript: ENSMUST00000142615
AA Change: V338A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
AA Change: V338A

DomainStartEndE-ValueType
Pfam:Itfg2 49 358 1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147155
SMART Domains Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
low complexity region 96 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203026
SMART Domains Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 130 3.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203195
Predicted Effect probably benign
Transcript: ENSMUST00000203374
AA Change: V306A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: V306A

DomainStartEndE-ValueType
Pfam:Itfg2 21 350 1.3e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203853
SMART Domains Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 85 3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203984
Predicted Effect probably benign
Transcript: ENSMUST00000204836
SMART Domains Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 28 141 8.9e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204362
Predicted Effect probably benign
Transcript: ENSMUST00000204223
SMART Domains Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal B cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Itfg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Itfg2 APN 6 128410381 missense probably benign 0.01
IGL02337:Itfg2 APN 6 128413570 missense probably benign 0.02
IGL02611:Itfg2 APN 6 128424725 missense probably damaging 1.00
R0492:Itfg2 UTSW 6 128413523 critical splice donor site probably null
R1462:Itfg2 UTSW 6 128424728 missense probably damaging 1.00
R1462:Itfg2 UTSW 6 128424728 missense probably damaging 1.00
R2960:Itfg2 UTSW 6 128413552 missense probably benign 0.33
R3110:Itfg2 UTSW 6 128411669 missense probably damaging 1.00
R3112:Itfg2 UTSW 6 128411669 missense probably damaging 1.00
R4067:Itfg2 UTSW 6 128410450 intron probably benign
R4866:Itfg2 UTSW 6 128416316 intron probably benign
R4900:Itfg2 UTSW 6 128416316 intron probably benign
R6623:Itfg2 UTSW 6 128411657 missense probably damaging 1.00
R6979:Itfg2 UTSW 6 128411591 missense probably damaging 1.00
R7031:Itfg2 UTSW 6 128416054 missense probably damaging 0.99
R7162:Itfg2 UTSW 6 128410583 missense probably damaging 0.98
R7660:Itfg2 UTSW 6 128424746 missense probably damaging 0.99
R7884:Itfg2 UTSW 6 128416381 intron probably benign
Posted On2015-04-16