Incidental Mutation 'R3813:Klhl38'
ID274167
Institutional Source Beutler Lab
Gene Symbol Klhl38
Ensembl Gene ENSMUSG00000022357
Gene Namekelch-like 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #R3813 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location58314573-58324169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58322557 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 259 (I259V)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
Predicted Effect probably benign
Transcript: ENSMUST00000022985
AA Change: I259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: I259V

DomainStartEndE-ValueType
BTB 34 131 2.12e-19 SMART
BACK 136 237 8.69e-29 SMART
Kelch 285 332 4.52e-1 SMART
Kelch 333 383 9.96e-4 SMART
Kelch 384 431 1.5e-1 SMART
Kelch 480 521 9.21e-8 SMART
Kelch 522 573 4.17e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147638
Meta Mutation Damage Score 0.064 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A T 11: 101,991,488 R106S probably benign Het
Adamts3 T C 5: 89,677,926 D1018G possibly damaging Het
Adgrg1 T A 8: 95,011,565 L562Q probably benign Het
Ankrd11 T C 8: 122,891,378 T1891A probably benign Het
Arid2 A G 15: 96,369,950 N648S probably benign Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Cacna1s A T 1: 136,085,347 I312F probably damaging Het
Cenpj A G 14: 56,553,222 S457P probably benign Het
Cep120 G A 18: 53,740,212 probably benign Het
Cfap70 T A 14: 20,421,122 I493L possibly damaging Het
Csmd3 T C 15: 48,791,813 D31G possibly damaging Het
Cstf3 T C 2: 104,609,121 Y54H probably damaging Het
Cubn T A 2: 13,294,325 Y3179F probably damaging Het
Cyp2s1 C T 7: 25,805,866 probably null Het
Dll4 C A 2: 119,331,029 T364N possibly damaging Het
Doc2g C T 19: 4,004,466 probably null Het
Etl4 A G 2: 20,788,435 E657G probably damaging Het
Fhdc1 A G 3: 84,464,270 probably null Het
Fndc1 T C 17: 7,773,322 H514R unknown Het
Gpat3 A G 5: 100,891,639 probably benign Het
H2-Q4 A G 17: 35,383,095 H311R possibly damaging Het
Hipk4 T C 7: 27,523,947 L144S probably damaging Het
Hspa4 G A 11: 53,270,979 P449S probably benign Het
Kif7 A G 7: 79,713,890 V90A probably damaging Het
Krt9 T A 11: 100,189,677 E414D probably damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lrp2 G A 2: 69,464,579 P3465L probably damaging Het
Lrriq1 T C 10: 103,216,111 E260G probably damaging Het
Macf1 A G 4: 123,374,767 S4689P probably damaging Het
Manba G A 3: 135,563,262 E643K possibly damaging Het
Mc3r T A 2: 172,248,879 L7Q probably benign Het
Mdga1 G A 17: 29,838,479 P788S probably damaging Het
Olfr1161 T C 2: 88,024,761 F13S probably damaging Het
Olfr814 T A 10: 129,873,986 Y257F probably damaging Het
Pcdh12 G A 18: 38,283,614 R153* probably null Het
Plk3 T C 4: 117,133,450 Y89C probably damaging Het
Prss41 G A 17: 23,837,622 R160* probably null Het
Rae1 T A 2: 173,006,873 probably benign Het
Rbm17 T A 2: 11,595,435 probably benign Het
Recql4 A T 15: 76,704,494 M1039K possibly damaging Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Slit3 A G 11: 35,675,979 Y1026C probably damaging Het
Tbl2 T A 5: 135,156,521 probably null Het
Tex2 G A 11: 106,511,944 T1034I unknown Het
Tmem241 A T 18: 12,067,110 probably benign Het
Tmtc1 T C 6: 148,354,891 probably benign Het
Trappc9 A T 15: 73,058,393 I38N probably damaging Het
Trmt1 T A 8: 84,695,217 probably benign Het
Vps37d G A 5: 135,074,450 Q113* probably null Het
Zufsp T C 10: 33,940,222 E242G possibly damaging Het
Other mutations in Klhl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Klhl38 APN 15 58322458 missense probably damaging 0.98
IGL01686:Klhl38 APN 15 58323311 missense probably benign
IGL01978:Klhl38 APN 15 58315089 missense probably damaging 0.99
IGL02227:Klhl38 APN 15 58323237 missense possibly damaging 0.68
IGL02413:Klhl38 APN 15 58323021 missense probably damaging 0.99
IGL02993:Klhl38 APN 15 58322455 nonsense probably null
IGL03351:Klhl38 APN 15 58323330 start codon destroyed probably null 0.97
PIT4812001:Klhl38 UTSW 15 58322542 missense probably benign
R2259:Klhl38 UTSW 15 58314978 missense possibly damaging 0.70
R4603:Klhl38 UTSW 15 58323220 missense possibly damaging 0.49
R5503:Klhl38 UTSW 15 58322349 missense possibly damaging 0.57
R6430:Klhl38 UTSW 15 58322311 missense probably benign
R6500:Klhl38 UTSW 15 58322413 nonsense probably null
R7299:Klhl38 UTSW 15 58322980 missense probably damaging 0.98
R7301:Klhl38 UTSW 15 58322980 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACAACCGTATGGGAAGCTTG -3'
(R):5'- ATGACAGGCTCTGTGGTGAG -3'

Sequencing Primer
(F):5'- AAGCTTGGCTAGGCTCTGC -3'
(R):5'- AAAGGTGTTCGAGGCCCTCATG -3'
Posted On2015-04-02