Incidental Mutation 'R5619:Klhl25'
ID 439712
Institutional Source Beutler Lab
Gene Symbol Klhl25
Ensembl Gene ENSMUSG00000055652
Gene Name kelch-like 25
Synonyms 2810402K13Rik
MMRRC Submission 043278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R5619 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 75498086-75523881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75516602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 198 (Y198H)
Ref Sequence ENSEMBL: ENSMUSP00000146192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092073] [ENSMUST00000171155] [ENSMUST00000205612] [ENSMUST00000205887] [ENSMUST00000206019]
AlphaFold Q8R2P1
Predicted Effect probably benign
Transcript: ENSMUST00000092073
AA Change: Y503H

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: Y503H

DomainStartEndE-ValueType
BTB 46 144 2.43e-28 SMART
BACK 149 251 1.06e-32 SMART
Blast:BTB 256 294 1e-9 BLAST
Kelch 296 340 1.4e0 SMART
Kelch 341 388 6.71e-10 SMART
Kelch 389 444 2.25e-11 SMART
Kelch 445 492 1.22e-1 SMART
Kelch 493 538 1.92e-5 SMART
Kelch 539 585 1.4e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171155
AA Change: Y503H

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: Y503H

DomainStartEndE-ValueType
BTB 46 144 2.43e-28 SMART
BACK 149 251 1.06e-32 SMART
Blast:BTB 256 294 1e-9 BLAST
Kelch 296 340 1.4e0 SMART
Kelch 341 388 6.71e-10 SMART
Kelch 389 444 2.25e-11 SMART
Kelch 445 492 1.22e-1 SMART
Kelch 493 538 1.92e-5 SMART
Kelch 539 585 1.4e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205612
AA Change: Y198H

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000205887
Predicted Effect probably benign
Transcript: ENSMUST00000206019
AA Change: Y503H

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206418
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adgre1 T G 17: 57,727,437 (GRCm39) L456V probably benign Het
Adgrv1 C T 13: 81,620,619 (GRCm39) G3943R probably damaging Het
Akap9 A G 5: 4,004,760 (GRCm39) probably benign Het
Atp1a2 T A 1: 172,106,948 (GRCm39) I791F probably damaging Het
BC004004 C G 17: 29,501,703 (GRCm39) P81A probably damaging Het
Brca2 C A 5: 150,480,579 (GRCm39) T2755K probably damaging Het
Cacna1c T C 6: 118,719,322 (GRCm39) D215G probably damaging Het
Ccdc142 C T 6: 83,080,603 (GRCm39) S445F probably benign Het
Comt T C 16: 18,230,469 (GRCm39) E80G probably damaging Het
Coq7 T C 7: 118,126,709 (GRCm39) probably benign Het
Coro7 C A 16: 4,494,799 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,228 (GRCm39) S239P probably damaging Het
Dnah5 T C 15: 28,302,581 (GRCm39) S1613P probably damaging Het
Dync2h1 T C 9: 7,118,885 (GRCm39) I2193M probably benign Het
Eipr1 A G 12: 28,917,078 (GRCm39) Y382C probably damaging Het
Fastkd2 T A 1: 63,778,469 (GRCm39) H447Q probably benign Het
Galk2 A T 2: 125,817,317 (GRCm39) R369* probably null Het
Gli2 G A 1: 118,764,485 (GRCm39) A1222V probably benign Het
Golim4 T A 3: 75,813,802 (GRCm39) K141* probably null Het
Gtpbp3 G T 8: 71,943,692 (GRCm39) probably benign Het
Gzmd C T 14: 56,367,224 (GRCm39) A223T probably benign Het
Igf2r T C 17: 12,958,221 (GRCm39) R151G probably damaging Het
Itga8 T A 2: 12,270,139 (GRCm39) R116W probably damaging Het
Klhdc1 T G 12: 69,304,919 (GRCm39) probably null Het
Klhl29 A T 12: 5,190,587 (GRCm39) M136K probably benign Het
Lipf A T 19: 33,944,292 (GRCm39) Y167F possibly damaging Het
Lpar1 T C 4: 58,487,155 (GRCm39) K39E possibly damaging Het
Mbtd1 T A 11: 93,820,705 (GRCm39) probably null Het
Myo1a T A 10: 127,554,413 (GRCm39) N794K probably benign Het
Nmrk1 T C 19: 18,622,452 (GRCm39) L177P possibly damaging Het
Noxa1 C T 2: 24,975,988 (GRCm39) E401K probably damaging Het
Or10g9b T A 9: 39,918,039 (GRCm39) M69L probably benign Het
Or4f53 A T 2: 111,087,856 (GRCm39) Y132F probably damaging Het
Ostm1 T A 10: 42,555,325 (GRCm39) C116S probably damaging Het
Pcdhga7 T C 18: 37,848,800 (GRCm39) I269T probably benign Het
Pfkfb3 T C 2: 11,489,470 (GRCm39) K276R probably benign Het
Pfkp A T 13: 6,648,765 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,270 (GRCm39) D142G probably damaging Het
Pkp3 T C 7: 140,668,419 (GRCm39) L556P probably damaging Het
Plb1 C A 5: 32,490,841 (GRCm39) T1046N probably damaging Het
Plxnb2 T C 15: 89,047,012 (GRCm39) S770G possibly damaging Het
Polk A T 13: 96,620,064 (GRCm39) I733N probably damaging Het
Potegl T C 2: 23,147,017 (GRCm39) probably null Het
Prkg2 C A 5: 99,136,156 (GRCm39) C301F probably damaging Het
Rabgap1l T C 1: 160,066,142 (GRCm39) T189A probably benign Het
Raph1 T C 1: 60,529,414 (GRCm39) probably benign Het
Rbm22 T A 18: 60,693,899 (GRCm39) M1K probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf186 T A 4: 138,694,715 (GRCm39) I85N probably benign Het
Ryr2 C A 13: 11,723,088 (GRCm39) R2517L probably damaging Het
Sec63 T A 10: 42,665,378 (GRCm39) Y103N probably damaging Het
Serpinb3a G A 1: 106,974,838 (GRCm39) P232S probably damaging Het
Slco6d1 C A 1: 98,423,947 (GRCm39) T533K probably damaging Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Spata46 A T 1: 170,136,490 (GRCm39) I14F probably damaging Het
Speer4b T C 5: 27,703,815 (GRCm39) H106R possibly damaging Het
Spint4 T C 2: 164,542,761 (GRCm39) L118P probably benign Het
Sptbn5 A G 2: 119,880,613 (GRCm39) noncoding transcript Het
Tgfbr3 A T 5: 107,288,380 (GRCm39) I427N probably benign Het
Thbs2 C A 17: 14,901,506 (GRCm39) C491F probably damaging Het
Tmem232 T A 17: 65,793,506 (GRCm39) E64D probably benign Het
Tnpo3 A T 6: 29,565,197 (GRCm39) C585* probably null Het
Ttc13 A T 8: 125,406,683 (GRCm39) probably benign Het
Tuba8 C T 6: 121,202,854 (GRCm39) A389V probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp25 A G 16: 76,830,833 (GRCm39) I30V probably benign Het
Vmn2r31 T A 7: 7,387,529 (GRCm39) K681* probably null Het
Vmn2r88 A G 14: 51,651,367 (GRCm39) E235G probably damaging Het
Vps29 T A 5: 122,492,511 (GRCm39) probably benign Het
Wdr1 A C 5: 38,686,879 (GRCm39) V568G possibly damaging Het
Zfp64 T G 2: 168,741,734 (GRCm39) Q398P probably damaging Het
Zfp64 G T 2: 168,741,735 (GRCm39) Q398K probably damaging Het
Zfp839 T C 12: 110,830,470 (GRCm39) Y398H probably damaging Het
Other mutations in Klhl25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Klhl25 APN 7 75,515,897 (GRCm39) nonsense probably null
IGL01142:Klhl25 APN 7 75,516,344 (GRCm39) missense probably damaging 1.00
IGL01295:Klhl25 APN 7 75,515,620 (GRCm39) missense probably benign 0.20
IGL02272:Klhl25 APN 7 75,516,368 (GRCm39) missense probably benign
IGL02721:Klhl25 APN 7 75,516,648 (GRCm39) missense probably damaging 1.00
R0196:Klhl25 UTSW 7 75,515,450 (GRCm39) missense probably damaging 1.00
R0365:Klhl25 UTSW 7 75,516,264 (GRCm39) missense probably damaging 1.00
R0828:Klhl25 UTSW 7 75,515,943 (GRCm39) missense probably damaging 0.99
R0881:Klhl25 UTSW 7 75,516,027 (GRCm39) missense probably damaging 1.00
R1061:Klhl25 UTSW 7 75,516,268 (GRCm39) nonsense probably null
R1228:Klhl25 UTSW 7 75,515,868 (GRCm39) missense probably benign
R1696:Klhl25 UTSW 7 75,516,591 (GRCm39) missense probably damaging 1.00
R1991:Klhl25 UTSW 7 75,516,480 (GRCm39) missense probably damaging 1.00
R2118:Klhl25 UTSW 7 75,516,480 (GRCm39) missense probably damaging 1.00
R4359:Klhl25 UTSW 7 75,516,480 (GRCm39) missense probably damaging 1.00
R4428:Klhl25 UTSW 7 75,515,162 (GRCm39) missense probably damaging 0.97
R4431:Klhl25 UTSW 7 75,515,162 (GRCm39) missense probably damaging 0.97
R4717:Klhl25 UTSW 7 75,516,528 (GRCm39) missense probably damaging 1.00
R4860:Klhl25 UTSW 7 75,516,798 (GRCm39) missense probably benign 0.03
R4860:Klhl25 UTSW 7 75,516,798 (GRCm39) missense probably benign 0.03
R5637:Klhl25 UTSW 7 75,515,540 (GRCm39) splice site probably null
R5652:Klhl25 UTSW 7 75,515,895 (GRCm39) missense probably benign 0.06
R5840:Klhl25 UTSW 7 75,516,440 (GRCm39) missense possibly damaging 0.92
R6693:Klhl25 UTSW 7 75,516,561 (GRCm39) missense possibly damaging 0.91
R6723:Klhl25 UTSW 7 75,515,739 (GRCm39) missense possibly damaging 0.64
R6875:Klhl25 UTSW 7 75,516,090 (GRCm39) missense probably damaging 1.00
R7239:Klhl25 UTSW 7 75,516,516 (GRCm39) missense probably benign 0.25
R8535:Klhl25 UTSW 7 75,515,843 (GRCm39) missense probably benign
R8712:Klhl25 UTSW 7 75,515,420 (GRCm39) missense probably damaging 0.99
R8768:Klhl25 UTSW 7 75,516,359 (GRCm39) missense probably damaging 1.00
R8827:Klhl25 UTSW 7 75,516,391 (GRCm39) missense possibly damaging 0.70
R9033:Klhl25 UTSW 7 75,516,681 (GRCm39) missense probably damaging 0.98
R9046:Klhl25 UTSW 7 75,515,337 (GRCm39) missense probably damaging 1.00
R9404:Klhl25 UTSW 7 75,515,153 (GRCm39) missense probably benign 0.01
R9480:Klhl25 UTSW 7 75,516,120 (GRCm39) missense probably damaging 0.99
R9601:Klhl25 UTSW 7 75,515,757 (GRCm39) missense probably damaging 1.00
R9762:Klhl25 UTSW 7 75,516,741 (GRCm39) missense probably damaging 1.00
Z1177:Klhl25 UTSW 7 75,515,870 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AGAGACGGTGTCAGCAATGC -3'
(R):5'- TGTCTGAAGTAGGGTCATAGCAG -3'

Sequencing Primer
(F):5'- GAGTGCCAAGCTGAAACTCTTTG -3'
(R):5'- GTCATAGCAGTCCAGGGTCTTACAC -3'
Posted On 2016-11-08