Incidental Mutation 'R0440:Klhl36'
ID 46693
Institutional Source Beutler Lab
Gene Symbol Klhl36
Ensembl Gene ENSMUSG00000031828
Gene Name kelch-like 36
Synonyms
MMRRC Submission 038641-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R0440 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 120589005-120603734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120603290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 515 (E515G)
Ref Sequence ENSEMBL: ENSMUSP00000034287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034287]
AlphaFold Q8R124
Predicted Effect probably damaging
Transcript: ENSMUST00000034287
AA Change: E515G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: E515G

DomainStartEndE-ValueType
BTB 45 142 2.05e-26 SMART
BACK 147 249 1.76e-15 SMART
Kelch 294 343 7.59e-2 SMART
Kelch 344 395 6.67e-5 SMART
Kelch 396 442 2.86e-4 SMART
Kelch 443 491 2.86e-4 SMART
Kelch 492 544 2.23e-1 SMART
Kelch 545 593 1.81e-6 SMART
Meta Mutation Damage Score 0.6893 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt G A 15: 83,112,694 (GRCm39) R30W probably damaging Het
Adam7 T C 14: 68,748,305 (GRCm39) probably null Het
Agl A T 3: 116,552,455 (GRCm39) L1158Q probably damaging Het
Akap9 T C 5: 4,114,569 (GRCm39) S66P probably damaging Het
Akr1c20 T A 13: 4,537,207 (GRCm39) D316V probably benign Het
App C A 16: 84,853,302 (GRCm39) E259* probably null Het
Arhgef4 A G 1: 34,784,529 (GRCm39) probably null Het
Armc9 G A 1: 86,121,984 (GRCm39) probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Btaf1 C T 19: 36,964,053 (GRCm39) P875S probably damaging Het
Cc2d1b T A 4: 108,483,013 (GRCm39) probably null Het
Ccar1 C T 10: 62,616,236 (GRCm39) V165I possibly damaging Het
Ccdc106 A T 7: 5,063,244 (GRCm39) I250F probably damaging Het
Ccny T C 18: 9,332,917 (GRCm39) I205V probably benign Het
Cfap52 T A 11: 67,844,914 (GRCm39) I52L probably benign Het
Chd8 T A 14: 52,442,283 (GRCm39) T2096S possibly damaging Het
Clstn3 G A 6: 124,428,372 (GRCm39) T423I probably damaging Het
Col13a1 T C 10: 61,703,262 (GRCm39) D440G possibly damaging Het
Dclk3 G A 9: 111,298,231 (GRCm39) V592M probably damaging Het
Ddx31 A T 2: 28,747,144 (GRCm39) I208F probably damaging Het
Dlat A T 9: 50,556,419 (GRCm39) probably null Het
Eml4 T C 17: 83,753,487 (GRCm39) probably null Het
Enpp2 T A 15: 54,710,633 (GRCm39) probably benign Het
Fryl T C 5: 73,244,315 (GRCm39) S38G possibly damaging Het
Gcnt1 G A 19: 17,307,680 (GRCm39) T15I probably benign Het
Gm21834 T C 17: 58,049,121 (GRCm39) T32A possibly damaging Het
Golga2 A G 2: 32,192,945 (GRCm39) D394G probably damaging Het
Gtf3c4 G T 2: 28,730,181 (GRCm39) probably null Het
Igkv4-69 A G 6: 69,261,253 (GRCm39) probably benign Het
Inpp5j T C 11: 3,451,150 (GRCm39) R500G possibly damaging Het
Kif5b A T 18: 6,226,980 (GRCm39) probably benign Het
Lifr C T 15: 7,186,672 (GRCm39) R59* probably null Het
Lrif1 A T 3: 106,641,714 (GRCm39) Q10L possibly damaging Het
Lrp8 A G 4: 107,726,295 (GRCm39) E908G probably damaging Het
Lrrc23 A T 6: 124,747,667 (GRCm39) D307E probably benign Het
Mpv17l T C 16: 13,762,583 (GRCm39) F27L probably damaging Het
Mta3 C T 17: 84,074,016 (GRCm39) A76V probably damaging Het
Muc5ac T A 7: 141,345,771 (GRCm39) Y202* probably null Het
Naprt A G 15: 75,762,918 (GRCm39) probably benign Het
Npr2 T A 4: 43,650,315 (GRCm39) V960D probably damaging Het
Oca2 A T 7: 56,073,100 (GRCm39) Y765F probably benign Het
Or2d2 A T 7: 106,727,939 (GRCm39) H220Q probably benign Het
Plxna2 T A 1: 194,326,712 (GRCm39) Y215* probably null Het
Prdm16 G A 4: 154,561,084 (GRCm39) probably benign Het
Ptn A G 6: 36,721,432 (GRCm39) S3P probably benign Het
Pus10 T C 11: 23,623,331 (GRCm39) probably benign Het
Rad21 A T 15: 51,831,754 (GRCm39) D442E probably benign Het
Rmdn2 A G 17: 79,975,384 (GRCm39) H291R probably damaging Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Samd4b A T 7: 28,107,585 (GRCm39) I228N probably benign Het
Sdr9c7 G T 10: 127,734,822 (GRCm39) probably benign Het
Slc13a2 T C 11: 78,294,001 (GRCm39) N254D probably benign Het
Slc16a8 T A 15: 79,136,807 (GRCm39) I132F probably damaging Het
Slc18b1 T A 10: 23,694,976 (GRCm39) Y274N probably benign Het
Slc45a2 A T 15: 11,000,903 (GRCm39) M1L probably benign Het
Smc1b A G 15: 84,996,874 (GRCm39) probably benign Het
Stab2 T C 10: 86,785,792 (GRCm39) S617G probably benign Het
Stk10 A G 11: 32,554,190 (GRCm39) M626V probably damaging Het
Synpo2l T G 14: 20,711,466 (GRCm39) I385L possibly damaging Het
Tmprss11d T C 5: 86,486,671 (GRCm39) Y73C probably damaging Het
Ttc21b A G 2: 66,066,726 (GRCm39) V309A probably benign Het
Tubgcp6 A G 15: 88,987,268 (GRCm39) I1235T probably benign Het
Usp8 A G 2: 126,567,310 (GRCm39) I110V probably benign Het
Vps13c G A 9: 67,880,143 (GRCm39) G3442S probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp207 T A 11: 80,286,333 (GRCm39) probably benign Het
Zfp748 A C 13: 67,701,144 (GRCm39) probably null Het
Other mutations in Klhl36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Klhl36 APN 8 120,596,755 (GRCm39) missense possibly damaging 0.92
IGL02310:Klhl36 APN 8 120,596,356 (GRCm39) splice site probably null
IGL02952:Klhl36 APN 8 120,597,223 (GRCm39) missense probably benign 0.01
IGL03027:Klhl36 APN 8 120,603,229 (GRCm39) missense probably benign 0.33
R1918:Klhl36 UTSW 8 120,603,463 (GRCm39) missense probably damaging 1.00
R2141:Klhl36 UTSW 8 120,603,511 (GRCm39) missense possibly damaging 0.94
R2762:Klhl36 UTSW 8 120,596,713 (GRCm39) missense probably damaging 1.00
R4184:Klhl36 UTSW 8 120,601,124 (GRCm39) missense probably damaging 0.99
R6268:Klhl36 UTSW 8 120,597,406 (GRCm39) missense probably damaging 0.98
R6899:Klhl36 UTSW 8 120,596,881 (GRCm39) missense probably benign
R7057:Klhl36 UTSW 8 120,603,536 (GRCm39) missense probably benign 0.01
R7152:Klhl36 UTSW 8 120,596,953 (GRCm39) missense probably benign 0.13
R7431:Klhl36 UTSW 8 120,597,121 (GRCm39) missense probably benign 0.00
R7438:Klhl36 UTSW 8 120,596,914 (GRCm39) nonsense probably null
R7751:Klhl36 UTSW 8 120,596,397 (GRCm39) missense probably benign 0.08
R7883:Klhl36 UTSW 8 120,601,217 (GRCm39) missense possibly damaging 0.65
R8897:Klhl36 UTSW 8 120,597,279 (GRCm39) missense probably benign 0.29
R8969:Klhl36 UTSW 8 120,596,887 (GRCm39) missense probably damaging 1.00
R9530:Klhl36 UTSW 8 120,591,808 (GRCm39) missense possibly damaging 0.68
R9776:Klhl36 UTSW 8 120,601,129 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGGGCCACTTATTCACCTGCATC -3'
(R):5'- TATCATACACCTGCACAGCCCTGG -3'

Sequencing Primer
(F):5'- AAGACTTTGTCTACATCTCAGGGG -3'
(R):5'- TGCACAGCCCTGGAGAAG -3'
Posted On 2013-06-11