Incidental Mutation 'R2072:Ablim3'
List |< first << previous [record 3 of 77] next >> last >|
ID227280
Institutional Source Beutler Lab
Gene Symbol Ablim3
Ensembl Gene ENSMUSG00000032735
Gene Nameactin binding LIM protein family, member 3
SynonymsD930036B08Rik
MMRRC Submission 040077-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.288) question?
Stock #R2072 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location61799395-61911852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61857088 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 83 (D83E)
Ref Sequence ENSEMBL: ENSMUSP00000125836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049378] [ENSMUST00000166783]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049378
AA Change: D83E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: D83E

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 possibly damaging
Transcript: ENSMUST00000166783
AA Change: D83E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: D83E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 63,898,737 R272P possibly damaging Het
9130011E15Rik A T 19: 45,965,381 I188K probably damaging Het
Aco1 G A 4: 40,183,605 G508S probably damaging Het
Adamts13 C A 2: 27,005,425 T1176N probably benign Het
Adgre5 T C 8: 83,727,804 T357A probably benign Het
Akap8l C T 17: 32,332,483 R511H probably damaging Het
Ankrd33 T C 15: 101,119,636 V310A probably benign Het
Bnipl C T 3: 95,244,211 G232E probably damaging Het
Btbd17 A T 11: 114,791,952 probably null Het
Cacna1s G A 1: 136,079,504 V173I probably benign Het
Ccdc122 T C 14: 77,068,951 probably null Het
Ces1a T A 8: 93,048,075 N12Y probably benign Het
Chrdl1 T C X: 143,303,418 I231V probably benign Het
Ciita C T 16: 10,518,353 T958I probably benign Het
Cnot1 G T 8: 95,739,833 T1592K possibly damaging Het
Dcaf15 T C 8: 84,101,741 D240G probably damaging Het
Ddx58 A T 4: 40,224,069 probably null Het
Dlgap1 C T 17: 70,662,770 R524C probably damaging Het
Dmd G C X: 84,312,483 A2257P probably benign Het
Dsg1c A G 18: 20,275,252 M453V probably benign Het
Ednrb G T 14: 103,817,099 N432K probably benign Het
Fcgbp G A 7: 28,120,389 G2514S probably damaging Het
Fez1 A G 9: 36,867,945 K306R probably benign Het
Fmo4 A G 1: 162,809,887 V12A probably benign Het
Fpgt T C 3: 155,087,874 Y172C probably damaging Het
Fsip2 T A 2: 83,008,815 F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 R205* probably null Het
Grik5 A T 7: 25,015,313 M752K possibly damaging Het
Herc2 A G 7: 56,226,964 N4516S probably damaging Het
Ifrd2 A T 9: 107,592,545 D439V probably damaging Het
Igsf3 A G 3: 101,439,515 T609A probably benign Het
Kif5a T C 10: 127,245,369 D232G probably damaging Het
Lgi2 A G 5: 52,538,505 S371P probably damaging Het
March3 A T 18: 56,811,853 V56E possibly damaging Het
Mib2 T C 4: 155,659,701 D168G possibly damaging Het
Nhs T A X: 161,842,721 H544L probably damaging Het
Nlrp2 A G 7: 5,325,006 S683P probably damaging Het
Olfr1260 C A 2: 89,978,213 T145K probably benign Het
Olfr1454 A T 19: 13,063,680 M90L probably benign Het
Olfr527 T C 7: 140,336,653 S264P possibly damaging Het
Onecut3 T G 10: 80,495,014 L3V unknown Het
Otogl C T 10: 107,781,043 C1791Y probably damaging Het
Paip1 T C 13: 119,430,262 V128A possibly damaging Het
Pcnx2 A T 8: 125,761,742 C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,819 L955P probably damaging Het
Phlpp2 T C 8: 109,928,492 S605P possibly damaging Het
Pkhd1l1 G T 15: 44,558,639 A3102S probably damaging Het
Plxnb2 G T 15: 89,158,451 R1545S probably damaging Het
Ppp4c T C 7: 126,787,348 probably null Het
Prune1 C T 3: 95,255,408 R318Q probably benign Het
Psg27 T C 7: 18,560,417 D355G probably damaging Het
Psg27 A G 7: 18,565,009 L129P probably benign Het
Psmc6 A G 14: 45,329,866 K7E possibly damaging Het
Reln A T 5: 21,919,177 V2777E probably damaging Het
Scn11a G T 9: 119,811,208 A207E possibly damaging Het
Slc5a5 C T 8: 70,892,439 G75R possibly damaging Het
Smarcd2 A T 11: 106,265,307 L42* probably null Het
Smg1 T C 7: 118,163,166 probably benign Het
Smurf2 T A 11: 106,841,769 Q335L probably benign Het
Sspo A T 6: 48,473,517 H2580L probably benign Het
Stk3 T C 15: 34,959,049 M256V possibly damaging Het
Syt1 A G 10: 108,583,972 I276T probably damaging Het
Syt10 C T 15: 89,790,776 D456N probably damaging Het
Taar9 A T 10: 24,108,979 C186S probably damaging Het
Tnrc6b C T 15: 80,882,965 P977L possibly damaging Het
Trp53bp2 A G 1: 182,458,867 T1091A probably benign Het
Ttn G T 2: 76,937,776 T2947N probably damaging Het
Ube2q1 T C 3: 89,779,571 probably null Het
Ube3c A G 5: 29,635,640 E671G probably benign Het
Upf3a A G 8: 13,785,850 K56R possibly damaging Het
Vmn2r15 A T 5: 109,286,753 M695K possibly damaging Het
Vmn2r3 A T 3: 64,275,072 M402K possibly damaging Het
Zfp354b T A 11: 50,922,452 R549* probably null Het
Zfp37 A T 4: 62,191,708 M411K probably damaging Het
Zfp747 T A 7: 127,373,970 T343S possibly damaging Het
Zfp853 T A 5: 143,289,382 Q161L unknown Het
Other mutations in Ablim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Ablim3 APN 18 61849406 missense possibly damaging 0.83
IGL00954:Ablim3 APN 18 61839685 splice site probably benign
IGL01012:Ablim3 APN 18 61839701 missense possibly damaging 0.91
IGL01402:Ablim3 APN 18 61871683 missense probably damaging 0.99
IGL01404:Ablim3 APN 18 61871683 missense probably damaging 0.99
IGL01609:Ablim3 APN 18 61822021 missense probably benign 0.05
IGL01710:Ablim3 APN 18 61871574 missense probably damaging 1.00
IGL01775:Ablim3 APN 18 61816918 splice site probably benign
IGL02967:Ablim3 APN 18 61826503 nonsense probably null
IGL03409:Ablim3 APN 18 61845851 missense probably damaging 1.00
R0143:Ablim3 UTSW 18 61855217 missense probably benign 0.20
R0601:Ablim3 UTSW 18 61849370 missense probably benign 0.19
R1067:Ablim3 UTSW 18 61823947 splice site probably benign
R1642:Ablim3 UTSW 18 61814311 missense probably benign 0.26
R1851:Ablim3 UTSW 18 61849395 missense probably benign 0.33
R1852:Ablim3 UTSW 18 61849395 missense probably benign 0.33
R2763:Ablim3 UTSW 18 61813544 nonsense probably null
R4865:Ablim3 UTSW 18 61805086 missense probably damaging 1.00
R5190:Ablim3 UTSW 18 61819911 missense probably benign 0.00
R5353:Ablim3 UTSW 18 61801399 missense probably damaging 1.00
R5442:Ablim3 UTSW 18 61857225 intron probably null
R5835:Ablim3 UTSW 18 61823922 missense probably damaging 1.00
R6547:Ablim3 UTSW 18 61823929 missense probably benign 0.01
X0028:Ablim3 UTSW 18 61805112 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCAAGTGTCCAGAAACATCAG -3'
(R):5'- AAAGTCAGACAGCAGCCTTTC -3'

Sequencing Primer
(F):5'- CAGTGAAAAGCCTATATGCTCCTGAG -3'
(R):5'- AGCAGCCTTTCCCCTAGTAAGG -3'
Posted On2014-09-17