Incidental Mutation 'R0045:Abi3'
ID 32774
Institutional Source Beutler Lab
Gene Symbol Abi3
Ensembl Gene ENSMUSG00000018381
Gene Name ABI family member 3
Synonyms 2210414K06Rik
MMRRC Submission 038339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0045 (G1)
Quality Score 82
Status Validated
Chromosome 11
Chromosomal Location 95720900-95733302 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 95723541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 368 (*368R)
Ref Sequence ENSEMBL: ENSMUSP00000061893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054173] [ENSMUST00000059026] [ENSMUST00000107712] [ENSMUST00000133070] [ENSMUST00000150134]
AlphaFold Q8BYZ1
Predicted Effect probably benign
Transcript: ENSMUST00000054173
SMART Domains Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 27 264 6.9e-103 PFAM
Pfam:HAD 29 211 1.9e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000059026
AA Change: *368R
SMART Domains Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: *368R

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Pfam:Abi_HHR 96 168 4.3e-31 PFAM
low complexity region 206 225 N/A INTRINSIC
low complexity region 233 252 N/A INTRINSIC
low complexity region 259 303 N/A INTRINSIC
SH3 312 367 1.41e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107712
SMART Domains Protein: ENSMUSP00000103340
Gene: ENSMUSG00000038811

DomainStartEndE-ValueType
G_gamma 5 69 6.71e-18 SMART
GGL 8 69 9.66e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131049
Predicted Effect probably benign
Transcript: ENSMUST00000133070
SMART Domains Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

DomainStartEndE-ValueType
low complexity region 95 108 N/A INTRINSIC
low complexity region 148 167 N/A INTRINSIC
low complexity region 173 213 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
ZnF_C2H2 244 267 7.9e-4 SMART
ZnF_C2H2 271 291 6.15e1 SMART
ZnF_C2H2 298 321 1.76e-1 SMART
ZnF_C2H2 328 350 2.53e-2 SMART
ZnF_C2H2 356 378 6.78e-3 SMART
ZnF_C2H2 384 406 2.95e-3 SMART
ZnF_C2H2 412 434 1.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137645
SMART Domains Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381

DomainStartEndE-ValueType
Pfam:Abi_HHR 1 49 8.8e-14 PFAM
low complexity region 87 106 N/A INTRINSIC
low complexity region 114 133 N/A INTRINSIC
low complexity region 140 183 N/A INTRINSIC
SH3 192 244 2.89e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143492
Predicted Effect probably benign
Transcript: ENSMUST00000150134
Predicted Effect probably benign
Transcript: ENSMUST00000176538
Meta Mutation Damage Score 0.9355 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,220,148 (GRCm39) N299S probably damaging Het
Agbl1 T C 7: 76,348,588 (GRCm39) probably null Het
Ap3b2 T C 7: 81,115,941 (GRCm39) D650G possibly damaging Het
Arhgap30 A G 1: 171,235,998 (GRCm39) S791G probably benign Het
Arvcf T A 16: 18,222,208 (GRCm39) L722Q probably benign Het
Ascc3 C T 10: 50,594,498 (GRCm39) R1198* probably null Het
Atf2 G T 2: 73,660,200 (GRCm39) T189N probably benign Het
Atf7ip A G 6: 136,536,814 (GRCm39) K16E probably damaging Het
Atg9b G T 5: 24,592,396 (GRCm39) Q621K probably damaging Het
Atp12a G A 14: 56,610,330 (GRCm39) E234K probably damaging Het
C8a T C 4: 104,684,012 (GRCm39) K368E probably benign Het
Ccdc168 T C 1: 44,096,365 (GRCm39) K1578E probably benign Het
Cdh23 T C 10: 60,366,757 (GRCm39) Y241C probably damaging Het
Cdon G A 9: 35,398,103 (GRCm39) S940N probably benign Het
Cds2 G T 2: 132,147,075 (GRCm39) G402V possibly damaging Het
Cog6 T C 3: 52,900,171 (GRCm39) probably null Het
Commd10 T C 18: 47,100,903 (GRCm39) S114P possibly damaging Het
Dram2 T C 3: 106,478,133 (GRCm39) V155A possibly damaging Het
Egr2 T A 10: 67,376,310 (GRCm39) V252E probably benign Het
Exoc3l C T 8: 106,020,317 (GRCm39) V203M probably damaging Het
Fsip1 C A 2: 118,078,773 (GRCm39) probably null Het
Gm10840 C A 11: 106,051,926 (GRCm39) probably benign Het
Gpr37l1 A G 1: 135,088,883 (GRCm39) L394P probably damaging Het
Gsap T C 5: 21,431,830 (GRCm39) M243T possibly damaging Het
Hsd3b5 T A 3: 98,526,460 (GRCm39) I329F probably benign Het
Htra1 T A 7: 130,563,262 (GRCm39) S164R probably damaging Het
Il17b G A 18: 61,823,315 (GRCm39) V50M probably damaging Het
Itga4 A T 2: 79,131,375 (GRCm39) Y581F probably damaging Het
Jmjd8 A G 17: 26,048,255 (GRCm39) E92G probably damaging Het
Kcnq4 T A 4: 120,555,152 (GRCm39) D677V probably damaging Het
Klhl42 A G 6: 146,993,666 (GRCm39) T213A probably benign Het
Lcn5 T C 2: 25,550,710 (GRCm39) S133P probably damaging Het
Liph T C 16: 21,786,803 (GRCm39) Y271C probably damaging Het
Lpcat3 T C 6: 124,678,437 (GRCm39) I228T probably benign Het
Lrrd1 A G 5: 3,916,418 (GRCm39) K812E possibly damaging Het
Ltbp2 T C 12: 84,860,062 (GRCm39) T631A probably damaging Het
Ltbp2 G A 12: 84,856,361 (GRCm39) T701I probably damaging Het
Mavs G A 2: 131,080,751 (GRCm39) R13Q probably damaging Het
Mtor C G 4: 148,549,406 (GRCm39) H597D probably benign Het
Muc5b T A 7: 141,410,555 (GRCm39) H1309Q unknown Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Nnat A T 2: 157,402,408 (GRCm39) probably benign Het
Or14c40 T C 7: 86,313,548 (GRCm39) L226S possibly damaging Het
Or2ag19 T A 7: 106,444,596 (GRCm39) Y259* probably null Het
Or5h17 G A 16: 58,820,854 (GRCm39) D269N probably benign Het
Or7e175 A T 9: 20,048,487 (GRCm39) Q25L probably benign Het
Pclo C T 5: 14,589,485 (GRCm39) A595V unknown Het
Pcsk6 T A 7: 65,612,676 (GRCm39) C315S probably damaging Het
Pkd2 T A 5: 104,603,671 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,606 (GRCm39) I155F probably damaging Het
Rapgef4 A G 2: 72,029,122 (GRCm39) H398R possibly damaging Het
Ripor2 A G 13: 24,878,209 (GRCm39) D328G probably damaging Het
Rpgrip1 A T 14: 52,378,601 (GRCm39) T509S possibly damaging Het
Sh3pxd2a A G 19: 47,255,622 (GRCm39) I1032T probably damaging Het
Slc25a13 A T 6: 6,109,277 (GRCm39) S362T probably benign Het
Stk35 A T 2: 129,642,488 (GRCm39) R10* probably null Het
Tal1 A G 4: 114,925,762 (GRCm39) D277G probably damaging Het
Tecta G A 9: 42,286,487 (GRCm39) T723I probably damaging Het
Trp53bp1 A C 2: 121,034,978 (GRCm39) V103G probably benign Het
Trpv4 A G 5: 114,774,518 (GRCm39) S189P probably benign Het
Ttll5 T G 12: 85,926,133 (GRCm39) probably benign Het
Usp8 A G 2: 126,584,143 (GRCm39) T451A probably benign Het
Vac14 G A 8: 111,363,584 (GRCm39) D340N probably benign Het
Vars1 C A 17: 35,217,042 (GRCm39) A471S probably benign Het
Vars1 A T 17: 35,229,595 (GRCm39) H404L probably damaging Het
Vmn2r70 T C 7: 85,215,252 (GRCm39) N94S probably damaging Het
Vpreb1b T C 16: 17,798,631 (GRCm39) L39P probably damaging Het
Vps13a A T 19: 16,618,174 (GRCm39) L693* probably null Het
Wapl A G 14: 34,455,751 (GRCm39) I176V probably benign Het
Wdr31 G T 4: 62,382,270 (GRCm39) L4I possibly damaging Het
Other mutations in Abi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Abi3 APN 11 95,726,625 (GRCm39) missense probably damaging 1.00
R0626:Abi3 UTSW 11 95,727,937 (GRCm39) missense probably benign 0.28
R0690:Abi3 UTSW 11 95,724,460 (GRCm39) unclassified probably benign
R4653:Abi3 UTSW 11 95,723,637 (GRCm39) missense probably benign 0.34
R5358:Abi3 UTSW 11 95,732,934 (GRCm39) missense probably benign 0.21
R5881:Abi3 UTSW 11 95,725,214 (GRCm39) missense probably damaging 1.00
R5881:Abi3 UTSW 11 95,725,213 (GRCm39) missense probably damaging 1.00
R6020:Abi3 UTSW 11 95,732,851 (GRCm39) nonsense probably null
R6036:Abi3 UTSW 11 95,723,684 (GRCm39) unclassified probably benign
R6036:Abi3 UTSW 11 95,723,684 (GRCm39) unclassified probably benign
R6130:Abi3 UTSW 11 95,727,921 (GRCm39) missense probably damaging 1.00
R6388:Abi3 UTSW 11 95,724,464 (GRCm39) critical splice donor site probably null
R6963:Abi3 UTSW 11 95,723,567 (GRCm39) unclassified probably benign
R7867:Abi3 UTSW 11 95,724,851 (GRCm39) missense possibly damaging 0.85
R7922:Abi3 UTSW 11 95,723,619 (GRCm39) missense unknown
R9641:Abi3 UTSW 11 95,724,503 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGCGATCTTCTGAGCATGAGC -3'
(R):5'- ACAGTGGTGACCCTGTACCCATAC -3'

Sequencing Primer
(F):5'- CTCTGGGCAAGGTGCTTAAAC -3'
(R):5'- TGTACCCATACACCCGGC -3'
Posted On 2013-05-09