Incidental Mutation 'R5881:Abi3'
ID 454433
Institutional Source Beutler Lab
Gene Symbol Abi3
Ensembl Gene ENSMUSG00000018381
Gene Name ABI family member 3
Synonyms 2210414K06Rik
MMRRC Submission 044085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5881 (G1)
Quality Score 123
Status Not validated
Chromosome 11
Chromosomal Location 95720900-95733302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95725214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 159 (L159M)
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 damaging
Transcript: ENSMUST00000059026
AA Change: L159M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: L159M

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 unknown
Transcript: ENSMUST00000137645
AA Change: L39M
SMART Domains Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381
AA Change: L39M

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.3%
  • 10x: 94.5%
  • 20x: 78.4%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A C 11: 102,664,636 (GRCm39) I406L probably benign Het
Ager G T 17: 34,819,051 (GRCm39) V300L probably damaging Het
Ank3 C T 10: 69,822,660 (GRCm39) S1726L probably benign Het
Boc A G 16: 44,311,014 (GRCm39) I740T probably damaging Het
C8a T A 4: 104,711,129 (GRCm39) D178V probably damaging Het
Ces3a G A 8: 105,777,198 (GRCm39) V174M probably damaging Het
Cisd1 A T 10: 71,172,244 (GRCm39) W13R probably damaging Het
Commd8 A T 5: 72,320,107 (GRCm39) D111E probably benign Het
Ddx60 A T 8: 62,490,104 (GRCm39) D1691V probably damaging Het
Desi2 A G 1: 178,065,479 (GRCm39) Y15C probably damaging Het
Dnmt1 A G 9: 20,864,013 (GRCm39) V24A probably damaging Het
Dock10 G A 1: 80,538,640 (GRCm39) T968M probably benign Het
Dsel A T 1: 111,787,168 (GRCm39) F1122L probably damaging Het
Eml3 T C 19: 8,910,807 (GRCm39) F220L probably damaging Het
Entpd2 A C 2: 25,290,824 (GRCm39) N443H probably damaging Het
Epgn A G 5: 91,176,222 (GRCm39) N36S probably benign Het
Fsip2 G T 2: 82,814,785 (GRCm39) S3506I possibly damaging Het
Gprin3 T C 6: 59,331,771 (GRCm39) S179G probably benign Het
Grifin G T 5: 140,549,342 (GRCm39) H125N possibly damaging Het
H1f9 A G 11: 94,858,989 (GRCm39) T95A possibly damaging Het
Hmcn1 A G 1: 150,506,078 (GRCm39) V3816A probably damaging Het
Hspa14 A G 2: 3,499,207 (GRCm39) F196L probably benign Het
Ice1 T C 13: 70,754,620 (GRCm39) K489E probably benign Het
Jmjd6 C T 11: 116,730,682 (GRCm39) W117* probably null Het
Lrit2 G T 14: 36,794,192 (GRCm39) A419S probably benign Het
Mc3r T C 2: 172,091,092 (GRCm39) S105P probably benign Het
Mccc1 A G 3: 36,018,531 (GRCm39) V601A probably benign Het
Myo1f A G 17: 33,795,627 (GRCm39) D91G probably damaging Het
Myo1f G A 17: 33,799,259 (GRCm39) E255K possibly damaging Het
Necap1 T A 6: 122,858,503 (GRCm39) D115E probably benign Het
Or4b12 A T 2: 90,096,786 (GRCm39) probably null Het
Or4k15b G A 14: 50,272,444 (GRCm39) R139C probably benign Het
Or51b6 T A 7: 103,555,883 (GRCm39) M79K probably damaging Het
Papln A G 12: 83,818,652 (GRCm39) E78G probably null Het
Phldb3 T C 7: 24,326,147 (GRCm39) probably null Het
Pkd1l2 A G 8: 117,724,321 (GRCm39) I2394T probably damaging Het
Ppa2 A T 3: 133,036,200 (GRCm39) N118I probably damaging Het
Ppef2 A T 5: 92,398,388 (GRCm39) C43* probably null Het
Pramel51 A G 12: 88,143,111 (GRCm39) L169P probably damaging Het
Rab27a G A 9: 72,992,321 (GRCm39) probably null Het
Rabgap1l A T 1: 160,169,683 (GRCm39) F47I probably damaging Het
Rala A G 13: 18,067,746 (GRCm39) I95T probably damaging Het
Rgl2 A G 17: 34,151,691 (GRCm39) D245G probably benign Het
Rnf34 A T 5: 123,002,146 (GRCm39) T35S probably damaging Het
Ros1 C T 10: 52,057,894 (GRCm39) R51Q probably benign Het
Samd9l T C 6: 3,372,716 (GRCm39) D1515G possibly damaging Het
Scn7a T C 2: 66,505,870 (GRCm39) E1673G probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Tdrd5 A T 1: 156,122,070 (GRCm39) S280T probably damaging Het
Tent2 A T 13: 93,312,246 (GRCm39) C180* probably null Het
Tie1 T C 4: 118,332,800 (GRCm39) I911V possibly damaging Het
Vipas39 G A 12: 87,298,581 (GRCm39) R194* probably null Het
Ybx3 A C 6: 131,345,451 (GRCm39) N307K possibly damaging Het
Ylpm1 A T 12: 85,088,899 (GRCm39) H1216L probably damaging Het
Other mutations in Abi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Abi3 APN 11 95,726,625 (GRCm39) missense probably damaging 1.00
R0045:Abi3 UTSW 11 95,723,541 (GRCm39) makesense probably null
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 95,725,213 (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'- AGACTCAAGTGCTCACCCTG -3'
(R):5'- GCAAAGGGCAACTCAGTCAC -3'

Sequencing Primer
(F):5'- ATCCGGGGTGGTCTCCTAG -3'
(R):5'- AGGGCAACTCAGTCACTGTGG -3'
Posted On 2017-02-10