Incidental Mutation 'R4431:Klhl25'
ID 328617
Institutional Source Beutler Lab
Gene Symbol Klhl25
Ensembl Gene ENSMUSG00000055652
Gene Name kelch-like 25
Synonyms 2810402K13Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 75498086-75523881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75515162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 23 (F23I)
Ref Sequence ENSEMBL: ENSMUSP00000145600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092073] [ENSMUST00000171155] [ENSMUST00000205612] [ENSMUST00000205887] [ENSMUST00000206019]
AlphaFold Q8R2P1
Predicted Effect probably benign
Transcript: ENSMUST00000092073
AA Change: F23I

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: F23I

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: F23I

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: F23I

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
Predicted Effect probably damaging
Transcript: ENSMUST00000205887
AA Change: F23I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206019
AA Change: F23I

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206418
Meta Mutation Damage Score 0.5890 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S 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
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
R5619:Klhl25 UTSW 7 75,516,602 (GRCm39) missense probably benign 0.22
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'- ACCTGGAAACTGCCACAGAG -3'
(R):5'- TGGAAGTTGACCGTATCATCC -3'

Sequencing Primer
(F):5'- CTGGAAACTGCCACAGAGGAGAG -3'
(R):5'- CCGTATCATCCCGGCTTTC -3'
Posted On 2015-07-21