Incidental Mutation 'R4428:Klhl25'
ID 328276
Institutional Source Beutler Lab
Gene Symbol Klhl25
Ensembl Gene ENSMUSG00000055652
Gene Name kelch-like 25
Synonyms 2810402K13Rik
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R4428 (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: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging 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
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E 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
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
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'- GGAAGTTGACCGTATCATCCC -3'

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