Incidental Mutation 'IGL00900:Klhdc2'
ID28696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhdc2
Ensembl Gene ENSMUSG00000020978
Gene Namekelch domain containing 2
SynonymsHCLP-1, D12Ertd522e, 2310022K15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00900
Quality Score
Status
Chromosome12
Chromosomal Location69296681-69310687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69303534 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 118 (F118I)
Ref Sequence ENSEMBL: ENSMUSP00000021362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021362]
Predicted Effect probably benign
Transcript: ENSMUST00000021362
AA Change: F118I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978
AA Change: F118I

DomainStartEndE-ValueType
internal_repeat_1 7 117 3.66e-6 PROSPERO
internal_repeat_2 66 163 6.25e-5 PROSPERO
Pfam:Kelch_1 217 258 1.4e-6 PFAM
Pfam:Kelch_2 217 262 1.2e-7 PFAM
Pfam:Kelch_4 217 266 8.4e-8 PFAM
Pfam:Kelch_3 227 276 5.1e-9 PFAM
Pfam:Kelch_5 265 305 1.4e-6 PFAM
Pfam:Kelch_4 267 310 2e-9 PFAM
Pfam:Kelch_3 278 326 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154667
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Klhdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Klhdc2 APN 12 69307213 missense probably benign 0.30
IGL01024:Klhdc2 APN 12 69305836 missense probably benign 0.01
IGL01457:Klhdc2 APN 12 69297053 missense probably benign
IGL01735:Klhdc2 APN 12 69300279 missense probably benign 0.39
IGL01913:Klhdc2 APN 12 69302358 missense probably benign 0.45
IGL02440:Klhdc2 APN 12 69303640 missense probably damaging 1.00
Dixit_dominus UTSW 12 69308976 nonsense probably null
R0611:Klhdc2 UTSW 12 69300279 missense probably benign 0.22
R0724:Klhdc2 UTSW 12 69297048 missense probably benign
R1350:Klhdc2 UTSW 12 69305710 critical splice donor site probably null
R1796:Klhdc2 UTSW 12 69300297 critical splice donor site probably null
R1907:Klhdc2 UTSW 12 69296960 start gained probably benign
R4418:Klhdc2 UTSW 12 69307597 unclassified probably benign
R5119:Klhdc2 UTSW 12 69296962 utr 5 prime probably benign
R5586:Klhdc2 UTSW 12 69307693 splice site probably null
R5987:Klhdc2 UTSW 12 69303613 missense possibly damaging 0.71
R6448:Klhdc2 UTSW 12 69303920 missense probably benign
R6848:Klhdc2 UTSW 12 69308976 nonsense probably null
R7824:Klhdc2 UTSW 12 69307228 missense probably damaging 0.98
R7844:Klhdc2 UTSW 12 69302406 missense probably damaging 1.00
R7886:Klhdc2 UTSW 12 69304632 splice site probably null
RF016:Klhdc2 UTSW 12 69303886 missense probably damaging 0.97
Posted On2013-04-17