Incidental Mutation 'R9388:Kng1'
ID 710451
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9388 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22898388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 596 (Y596F)
Ref Sequence ENSEMBL: ENSMUSP00000023589 (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: Y596F

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: Y596F

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 probably benign
Transcript: ENSMUST00000039492
SMART Domains Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875

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 probably damaging
Transcript: ENSMUST00000089902
AA Change: Y415F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: Y415F

DomainStartEndE-ValueType
CY 18 126 3.61e-17 SMART
CY 140 248 6.46e-28 SMART
CY 262 370 2.96e-36 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,338,714 (GRCm39) T433S probably benign Het
Abca14 A G 7: 119,882,261 (GRCm39) D1141G probably benign Het
Abca17 A G 17: 24,483,273 (GRCm39) S1728P unknown Het
Adam29 A C 8: 56,325,285 (GRCm39) C390G probably damaging Het
Angptl4 G A 17: 33,996,158 (GRCm39) R273* probably null Het
Arfgef3 T C 10: 18,505,877 (GRCm39) N929S probably benign Het
Baiap3 A G 17: 25,466,109 (GRCm39) probably null Het
Btla T C 16: 45,059,454 (GRCm39) S53P probably damaging Het
Cand1 A G 10: 119,047,213 (GRCm39) F759S possibly damaging Het
Cbll1 T C 12: 31,541,567 (GRCm39) T104A probably benign Het
Chd7 A G 4: 8,865,756 (GRCm39) M2688V possibly damaging Het
Cnot3 C A 7: 3,661,367 (GRCm39) H625Q possibly damaging Het
Dbn1 T C 13: 55,624,088 (GRCm39) I381V probably benign Het
Dennd2d T A 3: 106,395,915 (GRCm39) N135K possibly damaging Het
Dnah7c T C 1: 46,779,886 (GRCm39) I3196T probably damaging Het
Dock2 C A 11: 34,212,460 (GRCm39) R1227L possibly damaging Het
Esr1 A G 10: 4,919,179 (GRCm39) E423G probably benign Het
Ganab A G 19: 8,892,302 (GRCm39) Q826R probably damaging Het
Herc4 T A 10: 63,143,522 (GRCm39) M684K probably benign Het
Hipk2 A G 6: 38,707,956 (GRCm39) L613P probably damaging Het
Hpf1 A T 8: 61,353,182 (GRCm39) I188L probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Kif1a C A 1: 93,000,029 (GRCm39) probably null Het
Lrrc8d T A 5: 105,961,862 (GRCm39) H757Q probably damaging Het
Med24 A T 11: 98,600,893 (GRCm39) I600N possibly damaging Het
Mmp10 G A 9: 7,504,170 (GRCm39) W203* probably null Het
Mnt C T 11: 74,727,450 (GRCm39) A112V probably benign Het
Myh7b A T 2: 155,472,983 (GRCm39) N1415Y probably benign Het
Nipal1 T A 5: 72,825,557 (GRCm39) *417R probably null Het
Nlrp4c C T 7: 6,069,874 (GRCm39) Q592* probably null Het
Obscn T C 11: 58,943,489 (GRCm39) E4220G probably damaging Het
Or10al7 C T 17: 38,366,148 (GRCm39) C103Y probably damaging Het
Or13a23-ps1 G T 7: 140,118,928 (GRCm39) C166F unknown Het
Or2w1b T C 13: 21,300,774 (GRCm39) L304P probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhb20 A T 18: 37,638,853 (GRCm39) I460F probably benign Het
Prb1b T C 6: 132,289,437 (GRCm39) Q129R unknown Het
Primpol G A 8: 47,034,605 (GRCm39) T441I possibly damaging Het
Ptprc A G 1: 138,011,380 (GRCm39) V583A possibly damaging Het
Rfx6 T C 10: 51,554,117 (GRCm39) V71A possibly damaging Het
Rgsl1 T C 1: 153,693,355 (GRCm39) I574V probably benign Het
Rims3 A G 4: 120,748,552 (GRCm39) I258V possibly damaging Het
Sec16b T C 1: 157,388,393 (GRCm39) Y776H probably benign Het
Skint6 C T 4: 113,049,838 (GRCm39) D276N possibly damaging Het
Slc45a1 T C 4: 150,727,067 (GRCm39) D184G probably damaging Het
St6galnac4 A T 2: 32,479,625 (GRCm39) S61C probably damaging Het
Stab1 C T 14: 30,876,312 (GRCm39) V926M probably damaging Het
Stat1 A T 1: 52,193,037 (GRCm39) K642N possibly damaging Het
Tmprss3 A G 17: 31,410,041 (GRCm39) F191S probably damaging Het
Ube2o T C 11: 116,430,210 (GRCm39) D1176G possibly damaging Het
Usp17ld G T 7: 102,900,145 (GRCm39) N262K probably benign Het
Xpnpep1 T C 19: 52,993,233 (GRCm39) K365E probably damaging 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
IGL03024:Kng1 APN 16 22,893,442 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- ACCCAGAGAACAGAGTCTTTG -3'
(R):5'- TGTGAAGCTACCTAGGCTGC -3'

Sequencing Primer
(F):5'- ACAGAGTCTTTGGCAAGCTC -3'
(R):5'- CTACCTAGGCTGCGTAAGTTAAG -3'
Posted On 2022-04-18