Incidental Mutation 'R5115:Kng1'
ID 394168
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 042703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5115 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22888032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 209 (R209H)
Ref Sequence ENSEMBL: ENSMUSP00000087346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023589] [ENSMUST00000039492] [ENSMUST00000089902] [ENSMUST00000125790]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023589
AA Change: R209H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: R209H

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
AA Change: R209H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: R209H

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: R209H

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: R209H

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 benign
Transcript: ENSMUST00000125790
SMART Domains Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875

DomainStartEndE-ValueType
Pfam:Cystatin 1 62 6.5e-11 PFAM
Pfam:Cystatin 89 134 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136778
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.2%
Validation Efficiency 100% (47/47)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 C T 11: 54,231,324 (GRCm39) probably null Het
Asic1 C T 15: 99,569,933 (GRCm39) L85F probably damaging Het
Atic G A 1: 71,596,434 (GRCm39) probably null Het
Atp1b2 T C 11: 69,494,299 (GRCm39) T65A probably damaging Het
C2cd6 T A 1: 59,090,420 (GRCm39) I446L probably benign Het
Cep83 A G 10: 94,604,751 (GRCm39) H488R probably benign Het
Cwc15 A G 9: 14,419,192 (GRCm39) I163V probably benign Het
Cyp11b2 A T 15: 74,727,277 (GRCm39) probably null Het
Fat2 A G 11: 55,187,159 (GRCm39) V1229A probably damaging Het
Fbn1 T C 2: 125,174,303 (GRCm39) D1851G probably damaging Het
Golga7 A T 8: 23,735,986 (GRCm39) probably null Het
Gsdmc2 A T 15: 63,699,617 (GRCm39) H270Q probably benign Het
Kdm4a G T 4: 118,019,778 (GRCm39) P326Q possibly damaging Het
Mfn1 T C 3: 32,618,456 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Nlrc5 G A 8: 95,203,447 (GRCm39) V516I possibly damaging Het
Nrbp1 T G 5: 31,401,059 (GRCm39) Y96* probably null Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pikfyve T C 1: 65,263,276 (GRCm39) probably benign Het
Plin1 AGGCCACCAGGGGGTGGGC AGGC 7: 79,379,692 (GRCm39) probably benign Het
Prkdc A G 16: 15,608,444 (GRCm39) Q3082R probably benign Het
Rbfox1 A G 16: 7,227,636 (GRCm39) S405G probably damaging Het
Recql T C 6: 142,304,285 (GRCm39) probably benign Het
Serpina3c T C 12: 104,113,651 (GRCm39) E365G probably damaging Het
Slc17a5 A G 9: 78,484,394 (GRCm39) V122A probably benign Het
Sprr2b G T 3: 92,224,862 (GRCm39) C36F unknown Het
Stk36 T C 1: 74,674,986 (GRCm39) I1307T probably damaging Het
Tmc6 G A 11: 117,666,014 (GRCm39) T300I probably damaging Het
Ttll9 C A 2: 152,831,510 (GRCm39) probably benign Het
Vmn1r71 T A 7: 10,481,885 (GRCm39) M202L probably benign Het
Zfp276 A G 8: 123,991,716 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGCTCAGTGATGCTATTGCC -3'
(R):5'- TTAGGTCCTAAGACTCTGGGTG -3'

Sequencing Primer
(F):5'- GCTATTGCCCAGTAATAATGATGG -3'
(R):5'- TCCTAAGACTCTGGGTGGACCTG -3'
Posted On 2016-06-15