Incidental Mutation 'IGL03024:Kng1'
ID 408090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22893442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 272 (V272I)
Ref Sequence ENSEMBL: ENSMUSP00000040485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023589] [ENSMUST00000039492] [ENSMUST00000089902]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023589
AA Change: V272I

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: V272I

DomainStartEndE-ValueType
CY 18 126 3.61e-17 SMART
CY 140 248 6.46e-28 SMART
CY 262 370 2.96e-36 SMART
low complexity region 439 450 N/A INTRINSIC
low complexity region 494 524 N/A INTRINSIC
low complexity region 541 555 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000039492
AA Change: V272I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: V272I

DomainStartEndE-ValueType
CY 18 126 3.61e-17 SMART
CY 140 248 6.46e-28 SMART
CY 262 370 2.96e-36 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000089902
AA Change: V272I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: V272I

DomainStartEndE-ValueType
CY 18 126 3.61e-17 SMART
CY 140 248 6.46e-28 SMART
CY 262 370 2.96e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136778
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,212,464 (GRCm39) F257L probably benign Het
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Bcl3 A G 7: 19,543,059 (GRCm39) probably benign Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prl2c1 A C 13: 28,040,524 (GRCm39) D139A probably benign Het
Prmt5 A T 14: 54,754,055 (GRCm39) M43K possibly damaging Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Shoc2 T C 19: 53,991,458 (GRCm39) I241T probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S probably benign Het
Other mutations in Kng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01460:Kng1 APN 16 22,897,944 (GRCm39) missense probably benign 0.26
IGL01754:Kng1 APN 16 22,898,364 (GRCm39) missense probably benign 0.10
IGL02049:Kng1 APN 16 22,892,187 (GRCm39) missense probably damaging 0.99
IGL02138:Kng1 APN 16 22,886,558 (GRCm39) missense probably damaging 0.99
IGL02216:Kng1 APN 16 22,877,283 (GRCm39) missense probably damaging 0.98
IGL02230:Kng1 APN 16 22,879,244 (GRCm39) critical splice donor site probably null
IGL02630:Kng1 APN 16 22,898,595 (GRCm39) utr 3 prime probably benign
R0518:Kng1 UTSW 16 22,879,232 (GRCm39) missense possibly damaging 0.70
R0521:Kng1 UTSW 16 22,879,232 (GRCm39) missense possibly damaging 0.70
R1352:Kng1 UTSW 16 22,886,444 (GRCm39) critical splice acceptor site probably null
R1396:Kng1 UTSW 16 22,897,730 (GRCm39) missense probably benign 0.00
R1514:Kng1 UTSW 16 22,898,510 (GRCm39) missense probably damaging 0.97
R1753:Kng1 UTSW 16 22,897,869 (GRCm39) missense possibly damaging 0.68
R2048:Kng1 UTSW 16 22,877,354 (GRCm39) missense probably damaging 0.98
R2290:Kng1 UTSW 16 22,897,875 (GRCm39) missense possibly damaging 0.79
R2357:Kng1 UTSW 16 22,897,815 (GRCm39) missense possibly damaging 0.88
R3014:Kng1 UTSW 16 22,898,120 (GRCm39) missense possibly damaging 0.72
R3607:Kng1 UTSW 16 22,886,552 (GRCm39) missense probably damaging 1.00
R4322:Kng1 UTSW 16 22,898,270 (GRCm39) missense probably benign
R4334:Kng1 UTSW 16 22,898,370 (GRCm39) missense possibly damaging 0.88
R4388:Kng1 UTSW 16 22,898,068 (GRCm39) missense possibly damaging 0.63
R4558:Kng1 UTSW 16 22,896,168 (GRCm39) splice site probably null
R4887:Kng1 UTSW 16 22,886,448 (GRCm39) missense possibly damaging 0.71
R5115:Kng1 UTSW 16 22,888,032 (GRCm39) missense possibly damaging 0.87
R5288:Kng1 UTSW 16 22,897,842 (GRCm39) missense probably damaging 0.96
R5461:Kng1 UTSW 16 22,897,887 (GRCm39) missense probably benign 0.19
R5894:Kng1 UTSW 16 22,892,113 (GRCm39) missense probably benign 0.08
R6137:Kng1 UTSW 16 22,893,395 (GRCm39) missense possibly damaging 0.56
R6260:Kng1 UTSW 16 22,877,371 (GRCm39) missense possibly damaging 0.66
R6291:Kng1 UTSW 16 22,898,475 (GRCm39) missense probably damaging 1.00
R6620:Kng1 UTSW 16 22,900,232 (GRCm39) missense possibly damaging 0.74
R6947:Kng1 UTSW 16 22,896,124 (GRCm39) missense probably benign 0.21
R7142:Kng1 UTSW 16 22,898,170 (GRCm39) missense probably benign 0.25
R7166:Kng1 UTSW 16 22,898,428 (GRCm39) missense probably benign 0.00
R7168:Kng1 UTSW 16 22,898,391 (GRCm39) missense probably benign 0.26
R7347:Kng1 UTSW 16 22,886,537 (GRCm39) missense possibly damaging 0.46
R9005:Kng1 UTSW 16 22,898,146 (GRCm39) missense probably damaging 0.99
R9388:Kng1 UTSW 16 22,898,388 (GRCm39) missense possibly damaging 0.84
R9563:Kng1 UTSW 16 22,879,170 (GRCm39) missense probably damaging 1.00
R9689:Kng1 UTSW 16 22,879,224 (GRCm39) missense probably damaging 0.98
Z1176:Kng1 UTSW 16 22,898,366 (GRCm39) missense probably benign 0.00
Z1177:Kng1 UTSW 16 22,892,139 (GRCm39) missense probably benign 0.31
Posted On 2016-08-02