Incidental Mutation 'R2762:Klhl36'
ID 254102
Institutional Source Beutler Lab
Gene Symbol Klhl36
Ensembl Gene ENSMUSG00000031828
Gene Name kelch-like 36
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R2762 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120589005-120603734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120596713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 138 (L138Q)
Ref Sequence ENSEMBL: ENSMUSP00000034287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034287]
AlphaFold Q8R124
Predicted Effect probably damaging
Transcript: ENSMUST00000034287
AA Change: L138Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: L138Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212970
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,748,984 (GRCm39) T288S probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Baiap3 A G 17: 25,463,549 (GRCm39) L909P probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
Dusp3 T C 11: 101,865,661 (GRCm39) T178A probably benign Het
En2 T C 5: 28,375,419 (GRCm39) S321P probably damaging Het
Ext1 G A 15: 53,208,323 (GRCm39) S146L probably benign Het
Gm9923 C A 10: 72,145,460 (GRCm39) H104N probably benign Het
Igtp A G 11: 58,096,891 (GRCm39) M21V possibly damaging Het
Irs2 T C 8: 11,056,408 (GRCm39) S675G probably damaging Het
Kmt2d T C 15: 98,749,936 (GRCm39) probably benign Het
Nox3 A G 17: 3,746,433 (GRCm39) V35A probably benign Het
Osbpl1a T C 18: 12,899,956 (GRCm39) D274G possibly damaging Het
Plec C T 15: 76,056,486 (GRCm39) G4349S probably damaging Het
Ppip5k2 A C 1: 97,645,234 (GRCm39) S1073R probably damaging Het
Prkcq A G 2: 11,237,451 (GRCm39) K77E possibly damaging Het
Prss1 T C 6: 41,440,215 (GRCm39) V184A possibly damaging Het
Rnf111 T A 9: 70,383,327 (GRCm39) H202L possibly damaging Het
S100pbp G A 4: 129,049,219 (GRCm39) R308* probably null Het
Sgcb A T 5: 73,793,052 (GRCm39) probably null Het
Spam1 T C 6: 24,796,642 (GRCm39) F198L possibly damaging Het
Tbc1d4 A C 14: 101,731,797 (GRCm39) C472G probably damaging Het
Tonsl T C 15: 76,514,820 (GRCm39) N1128S probably damaging Het
Ttn C T 2: 76,628,447 (GRCm39) R14571Q probably damaging Het
Tubb4a T A 17: 57,387,974 (GRCm39) T351S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Wasl T C 6: 24,619,500 (GRCm39) Y340C unknown 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
R0440:Klhl36 UTSW 8 120,603,290 (GRCm39) missense probably damaging 1.00
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
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'- TGCAGCGACTACTTCAACTCC -3'
(R):5'- CACTGCTCAGGTAGACACAC -3'

Sequencing Primer
(F):5'- ATGTTCACACTGGGCATGC -3'
(R):5'- TCAGGTAGACACACAGCTTCTG -3'
Posted On 2014-12-04