Incidental Mutation 'R8979:Ablim3'
ID 683669
Institutional Source Beutler Lab
Gene Symbol Ablim3
Ensembl Gene ENSMUSG00000032735
Gene Name actin binding LIM protein family, member 3
Synonyms D930036B08Rik
MMRRC Submission 068812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 61932463-62044895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61982397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 183 (V183I)
Ref Sequence ENSEMBL: ENSMUSP00000041243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049378] [ENSMUST00000166783]
AlphaFold Q69ZX8
Predicted Effect probably benign
Transcript: ENSMUST00000049378
AA Change: V183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: V183I

DomainStartEndE-ValueType
LIM 22 73 4.19e-8 SMART
LIM 81 133 2.31e-10 SMART
LIM 150 201 2.4e-17 SMART
LIM 209 261 1.12e-8 SMART
Pfam:AbLIM_anchor 273 646 6.5e-154 PFAM
VHP 647 682 1.66e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166783
AA Change: V183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: V183I

DomainStartEndE-ValueType
LIM 22 73 4.19e-8 SMART
LIM 81 133 2.31e-10 SMART
LIM 150 201 2.4e-17 SMART
LIM 209 261 1.12e-8 SMART
Pfam:AbLIM_anchor 273 646 6.5e-154 PFAM
VHP 647 682 1.66e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,545 (GRCm39) R353S probably damaging Het
Adgrb3 T A 1: 25,527,115 (GRCm39) Q607L probably benign Het
Adgrl1 A G 8: 84,665,015 (GRCm39) D1234G probably benign Het
Alms1 A G 6: 85,598,009 (GRCm39) Y945C probably damaging Het
Arhgef26 T A 3: 62,246,969 (GRCm39) W18R possibly damaging Het
Caskin1 G T 17: 24,717,899 (GRCm39) A229S possibly damaging Het
Celsr1 A T 15: 85,847,340 (GRCm39) S1466T probably damaging Het
Cftr T C 6: 18,227,947 (GRCm39) Y380H probably benign Het
Ciapin1 A T 8: 95,549,753 (GRCm39) L301Q probably damaging Het
Clec1b A G 6: 129,380,537 (GRCm39) E151G probably benign Het
Cngb1 G A 8: 96,004,913 (GRCm39) probably benign Het
Cntln T A 4: 85,048,910 (GRCm39) V240E probably damaging Het
Cog5 A G 12: 31,840,894 (GRCm39) T240A probably benign Het
Col5a3 G A 9: 20,686,597 (GRCm39) P1343S unknown Het
Cspp1 T A 1: 10,134,630 (GRCm39) S127T probably benign Het
Dnah9 T G 11: 65,895,978 (GRCm39) M2466L probably benign Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw13 A T 9: 109,013,197 (GRCm39) W247R probably damaging Het
Gbp4 G A 5: 105,267,248 (GRCm39) T557M probably benign Het
Ide G A 19: 37,302,711 (GRCm39) A133V Het
Il2rb C A 15: 78,376,052 (GRCm39) probably benign Het
Itgb1 A G 8: 129,448,951 (GRCm39) E519G probably benign Het
Kifc1 A G 17: 34,102,228 (GRCm39) Y462H possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Llgl1 C T 11: 60,601,129 (GRCm39) A689V probably benign Het
Lrrc37a C A 11: 103,393,833 (GRCm39) V531L possibly damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mid1 G A X: 168,768,009 (GRCm39) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm39) L760F probably benign Het
Mplkipl1 A G 19: 61,164,169 (GRCm39) Y89H probably damaging Het
Mst1r C T 9: 107,792,478 (GRCm39) R951C probably damaging Het
Naalad2 G A 9: 18,242,146 (GRCm39) T586M probably damaging Het
Or4c108 C T 2: 88,804,173 (GRCm39) V21I probably benign Het
Oxct2b A G 4: 123,011,169 (GRCm39) N363S probably benign Het
Padi6 T G 4: 140,466,474 (GRCm39) N145T probably benign Het
Plcl2 T A 17: 50,947,145 (GRCm39) M1008K possibly damaging Het
Plekha5 T C 6: 140,496,818 (GRCm39) S435P probably damaging Het
Prkacb C A 3: 146,518,411 (GRCm39) G10C probably benign Het
Psg29 A T 7: 16,937,544 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Ptpro A G 6: 137,345,140 (GRCm39) I49V probably benign Het
Rassf1 A G 9: 107,429,004 (GRCm39) D70G probably benign Het
Rbm24 A T 13: 46,572,531 (GRCm39) T9S probably damaging Het
Rp1 T C 1: 4,218,937 (GRCm39) T948A unknown Het
Ryr2 A T 13: 11,609,924 (GRCm39) C4301S probably benign Het
S100pbp T C 4: 129,076,133 (GRCm39) D64G probably damaging Het
Samd3 A G 10: 26,120,428 (GRCm39) K141E possibly damaging Het
Scgb1b29 A T 7: 32,141,277 (GRCm39) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm39) T1448A possibly damaging Het
Slc51b T C 9: 65,320,210 (GRCm39) N86D probably benign Het
Slc6a3 G A 13: 73,715,720 (GRCm39) V452I probably benign Het
Sobp A G 10: 42,896,976 (GRCm39) probably null Het
Spats2 T C 15: 99,110,123 (GRCm39) S507P possibly damaging Het
Spns3 C T 11: 72,420,416 (GRCm39) A357T probably damaging Het
Suox A T 10: 128,507,367 (GRCm39) H220Q probably damaging Het
Tbc1d9b A T 11: 50,061,809 (GRCm39) S1106C probably benign Het
Tbx1 T C 16: 18,406,745 (GRCm39) D9G unknown Het
Tcaf2 A T 6: 42,601,404 (GRCm39) F885Y probably damaging Het
Tgoln1 T C 6: 72,593,262 (GRCm39) T73A probably benign Het
Tigd3 G A 19: 5,941,853 (GRCm39) P426S probably benign Het
Tmem233 T A 5: 116,221,260 (GRCm39) probably benign Het
Tnfrsf11a A G 1: 105,754,825 (GRCm39) D299G possibly damaging Het
Trim32 T C 4: 65,531,692 (GRCm39) V83A possibly damaging Het
Unc13a A T 8: 72,113,125 (GRCm39) M242K probably benign Het
Vat1 C T 11: 101,353,041 (GRCm39) G293D probably damaging Het
Vmn1r174 T A 7: 23,453,892 (GRCm39) V186D possibly damaging Het
Wdfy3 A G 5: 102,096,764 (GRCm39) Y345H probably damaging Het
Zzef1 C T 11: 72,766,003 (GRCm39) T1510I probably benign Het
Other mutations in Ablim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Ablim3 APN 18 61,982,477 (GRCm39) missense possibly damaging 0.83
IGL00954:Ablim3 APN 18 61,972,756 (GRCm39) splice site probably benign
IGL01012:Ablim3 APN 18 61,972,772 (GRCm39) missense possibly damaging 0.91
IGL01402:Ablim3 APN 18 62,004,754 (GRCm39) missense probably damaging 0.99
IGL01404:Ablim3 APN 18 62,004,754 (GRCm39) missense probably damaging 0.99
IGL01609:Ablim3 APN 18 61,955,092 (GRCm39) missense probably benign 0.05
IGL01710:Ablim3 APN 18 62,004,645 (GRCm39) missense probably damaging 1.00
IGL01775:Ablim3 APN 18 61,949,989 (GRCm39) splice site probably benign
IGL02967:Ablim3 APN 18 61,959,574 (GRCm39) nonsense probably null
IGL03409:Ablim3 APN 18 61,978,922 (GRCm39) missense probably damaging 1.00
R0143:Ablim3 UTSW 18 61,988,288 (GRCm39) missense probably benign 0.20
R0601:Ablim3 UTSW 18 61,982,441 (GRCm39) missense probably benign 0.19
R1067:Ablim3 UTSW 18 61,957,018 (GRCm39) splice site probably benign
R1642:Ablim3 UTSW 18 61,947,382 (GRCm39) missense probably benign 0.26
R1851:Ablim3 UTSW 18 61,982,466 (GRCm39) missense probably benign 0.33
R1852:Ablim3 UTSW 18 61,982,466 (GRCm39) missense probably benign 0.33
R2072:Ablim3 UTSW 18 61,990,159 (GRCm39) missense possibly damaging 0.74
R2763:Ablim3 UTSW 18 61,946,615 (GRCm39) nonsense probably null
R4865:Ablim3 UTSW 18 61,938,157 (GRCm39) missense probably damaging 1.00
R5190:Ablim3 UTSW 18 61,952,982 (GRCm39) missense probably benign 0.00
R5353:Ablim3 UTSW 18 61,934,470 (GRCm39) missense probably damaging 1.00
R5442:Ablim3 UTSW 18 61,990,296 (GRCm39) splice site probably null
R5835:Ablim3 UTSW 18 61,956,993 (GRCm39) missense probably damaging 1.00
R6547:Ablim3 UTSW 18 61,957,000 (GRCm39) missense probably benign 0.01
R7231:Ablim3 UTSW 18 61,938,135 (GRCm39) critical splice donor site probably null
R7386:Ablim3 UTSW 18 61,955,065 (GRCm39) missense probably damaging 1.00
R7404:Ablim3 UTSW 18 61,955,099 (GRCm39) missense probably damaging 0.99
R7529:Ablim3 UTSW 18 61,955,039 (GRCm39) missense probably benign
R9037:Ablim3 UTSW 18 61,952,066 (GRCm39) missense probably benign 0.10
R9095:Ablim3 UTSW 18 61,953,463 (GRCm39) missense probably benign 0.01
R9250:Ablim3 UTSW 18 61,944,501 (GRCm39) missense probably damaging 1.00
R9320:Ablim3 UTSW 18 61,972,805 (GRCm39) missense probably damaging 1.00
R9454:Ablim3 UTSW 18 61,952,067 (GRCm39) missense possibly damaging 0.79
R9457:Ablim3 UTSW 18 61,978,920 (GRCm39) missense probably benign 0.06
R9591:Ablim3 UTSW 18 61,954,984 (GRCm39) missense probably benign 0.15
R9761:Ablim3 UTSW 18 61,952,885 (GRCm39) missense possibly damaging 0.82
X0028:Ablim3 UTSW 18 61,938,183 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCATCATGGGAGATGGAAC -3'
(R):5'- TCCAGGGATACAGGTTCCCTTG -3'

Sequencing Primer
(F):5'- TGGAACAACCCAGGAAGGCC -3'
(R):5'- ATACAGGTTCCCTTGGCAGG -3'
Posted On 2021-10-11