Incidental Mutation 'R7883:Klhl36'
ID 608892
Institutional Source Beutler Lab
Gene Symbol Klhl36
Ensembl Gene ENSMUSG00000031828
Gene Name kelch-like 36
Synonyms
MMRRC Submission 045935-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R7883 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 120589005-120603734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120601217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 412 (V412A)
Ref Sequence ENSEMBL: ENSMUSP00000034287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034287]
AlphaFold Q8R124
Predicted Effect possibly damaging
Transcript: ENSMUST00000034287
AA Change: V412A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: V412A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik A T 4: 124,744,440 (GRCm39) W5R unknown Het
Abcb6 A T 1: 75,154,660 (GRCm39) S258R possibly damaging Het
Abcc10 A G 17: 46,618,027 (GRCm39) V1082A probably benign Het
Adrb2 A G 18: 62,312,447 (GRCm39) V126A probably damaging Het
Apol11a A G 15: 77,400,774 (GRCm39) E87G probably damaging Het
Arhgap45 T A 10: 79,863,423 (GRCm39) C755* probably null Het
Arl13b A T 16: 62,647,629 (GRCm39) I93K probably damaging Het
Aspm A G 1: 139,406,405 (GRCm39) K1764R possibly damaging Het
Atp8b5 A G 4: 43,342,471 (GRCm39) I381V probably damaging Het
Atxn2 A G 5: 121,940,180 (GRCm39) H985R possibly damaging Het
Bms1 G T 6: 118,365,735 (GRCm39) N1150K probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta2 T C 11: 70,566,037 (GRCm39) D749G probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cep152 G A 2: 125,454,978 (GRCm39) A274V possibly damaging Het
Chd7 A G 4: 8,826,504 (GRCm39) N956S probably damaging Het
Cpt1c A T 7: 44,613,438 (GRCm39) probably null Het
Cttn C T 7: 143,999,555 (GRCm39) V338I probably benign Het
Dab2ip G A 2: 35,610,218 (GRCm39) G811D possibly damaging Het
Dmtf1 T C 5: 9,190,397 (GRCm39) T106A probably benign Het
Dync2h1 T C 9: 7,005,566 (GRCm39) E3768G possibly damaging Het
Exoc1 T A 5: 76,709,229 (GRCm39) D612E probably damaging Het
Fat2 T C 11: 55,144,190 (GRCm39) probably null Het
Fat4 G A 3: 39,035,968 (GRCm39) E3207K probably damaging Het
Fbxw18 A G 9: 109,517,474 (GRCm39) Y410H probably damaging Het
Fgfr3 T A 5: 33,891,235 (GRCm39) S518T probably damaging Het
Fzr1 G A 10: 81,204,469 (GRCm39) T377M probably damaging Het
Gcnt3 T A 9: 69,941,453 (GRCm39) I372F probably damaging Het
Gm10577 A T 4: 100,877,719 (GRCm39) Y59N unknown Het
Gm826 A G 2: 160,169,213 (GRCm39) L32P unknown Het
Grid1 T G 14: 35,172,259 (GRCm39) probably null Het
Hid1 T A 11: 115,245,435 (GRCm39) T457S probably damaging Het
Hsd3b5 A G 3: 98,529,456 (GRCm39) V58A probably benign Het
Iqcj A G 3: 67,954,641 (GRCm39) K49E probably damaging Het
Itpk1 A G 12: 102,572,434 (GRCm39) V93A probably benign Het
Kcnt2 A G 1: 140,450,888 (GRCm39) I722M probably damaging Het
Krt18 G A 15: 101,936,885 (GRCm39) V58M possibly damaging Het
Lats2 T C 14: 57,934,657 (GRCm39) Y691C probably damaging Het
Lrp1b A T 2: 40,555,141 (GRCm39) I4095N Het
Map1a A G 2: 121,135,853 (GRCm39) E2223G probably damaging Het
Med25 A G 7: 44,541,232 (GRCm39) F94L possibly damaging Het
Mertk A G 2: 128,618,265 (GRCm39) I499V probably benign Het
Mrps12 A G 7: 28,439,568 (GRCm39) L49P probably benign Het
Nwd1 T A 8: 73,393,754 (GRCm39) V339D probably damaging Het
Obscn G A 11: 58,960,835 (GRCm39) Q3159* probably null Het
Patj G A 4: 98,499,372 (GRCm39) V1349I probably benign Het
Pcdha8 T A 18: 37,126,196 (GRCm39) V226D probably damaging Het
Pdgfd T A 9: 6,293,939 (GRCm39) probably null Het
Pdzd7 A C 19: 45,018,679 (GRCm39) I600S probably damaging Het
Pgpep1l G A 7: 67,888,897 (GRCm39) R45* probably null Het
Pik3c3 T C 18: 30,407,416 (GRCm39) S55P probably benign Het
Pkhd1l1 A T 15: 44,392,522 (GRCm39) D1619V probably damaging Het
Pkp1 A G 1: 135,812,641 (GRCm39) probably null Het
Ppan T A 9: 20,802,777 (GRCm39) I311N probably benign Het
Ppih C A 4: 119,167,987 (GRCm39) G175W probably damaging Het
Ppp1r8 G T 4: 132,562,026 (GRCm39) Q65K probably damaging Het
Psmd5 T A 2: 34,746,524 (GRCm39) K351M possibly damaging Het
Pth1r T C 9: 110,560,626 (GRCm39) K53R probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Rgl3 T C 9: 21,892,723 (GRCm39) I288V probably benign Het
Sds A G 5: 120,617,278 (GRCm39) I45V possibly damaging Het
Sfxn4 A T 19: 60,847,187 (GRCm39) probably null Het
Sis A T 3: 72,828,329 (GRCm39) C1220S possibly damaging Het
Slc22a16 T G 10: 40,479,660 (GRCm39) D577E probably benign Het
Slc25a10 T A 11: 120,385,340 (GRCm39) M43K possibly damaging Het
Smpd1 T C 7: 105,206,192 (GRCm39) I440T probably damaging Het
Spata6l A C 19: 28,906,013 (GRCm39) S297A probably benign Het
St6galnac6 A G 2: 32,504,941 (GRCm39) N151S probably benign Het
Taf4 G T 2: 179,571,088 (GRCm39) L742M probably damaging Het
Tctn1 A G 5: 122,402,375 (GRCm39) S20P possibly damaging Het
Tkfc A T 19: 10,572,394 (GRCm39) probably null Het
Tmem270 A G 5: 134,931,681 (GRCm39) V87A possibly damaging Het
Tpo T C 12: 30,153,169 (GRCm39) H395R probably damaging Het
Tufm T C 7: 126,088,114 (GRCm39) F206L possibly damaging Het
Tulp2 A G 7: 45,166,188 (GRCm39) probably null Het
Tulp3 G A 6: 128,303,807 (GRCm39) T264M probably damaging Het
Uqcrc2 A G 7: 120,244,440 (GRCm39) D194G possibly damaging Het
Vill C A 9: 118,894,589 (GRCm39) C415* probably null Het
Zfp799 A G 17: 33,039,256 (GRCm39) C337R probably damaging Het
Zhx2 A G 15: 57,685,270 (GRCm39) E213G possibly damaging 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
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
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'- ACATTCGCACACTGTCTGGC -3'
(R):5'- CCAATTCAGAAATGGGATGCTTG -3'

Sequencing Primer
(F):5'- TGGCCTTGCTCTGTGGACAC -3'
(R):5'- AATTCAGAAATGGGATGCTTGTCTTG -3'
Posted On 2019-12-20