Incidental Mutation 'R6947:Kng1'
ID 540947
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 045060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6947 (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 G at 22896124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 343 (H343R)
Ref Sequence ENSEMBL: ENSMUSP00000087346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023589] [ENSMUST00000039492] [ENSMUST00000089902]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023589
AA Change: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H343R

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: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: H343R

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: ENSMUST00000089902
AA Change: H343R

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: H343R

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,073,857 (GRCm39) probably null Het
Adcy4 T C 14: 56,015,848 (GRCm39) T414A possibly damaging Het
Bop1 A G 15: 76,338,188 (GRCm39) F561L probably damaging Het
Ccdc18 T C 5: 108,309,401 (GRCm39) V332A probably benign Het
Cep290 A G 10: 100,365,918 (GRCm39) T1042A probably damaging Het
Cnot8 G T 11: 58,008,331 (GRCm39) V266L probably benign Het
Cxxc4 C T 3: 133,946,277 (GRCm39) S286F possibly damaging Het
Cyp2d12 A T 15: 82,443,248 (GRCm39) I386L probably benign Het
Dgka A T 10: 128,568,884 (GRCm39) I227N probably damaging Het
Eif2d T C 1: 131,092,404 (GRCm39) V354A probably benign Het
Fgr T A 4: 132,722,380 (GRCm39) probably null Het
Idnk A G 13: 58,308,055 (GRCm39) probably null Het
Kmt2e T C 5: 23,702,543 (GRCm39) S952P probably damaging Het
Lgals8 G A 13: 12,469,682 (GRCm39) probably benign Het
Lrit3 T A 3: 129,582,883 (GRCm39) Q368L probably benign Het
Lypd8 A T 11: 58,273,592 (GRCm39) T24S probably benign Het
Map3k4 G A 17: 12,479,456 (GRCm39) Q704* probably null Het
Mcm3ap A G 10: 76,351,500 (GRCm39) I1948V probably benign Het
Mettl25 A G 10: 105,662,053 (GRCm39) F306L probably benign Het
Mos A C 4: 3,871,585 (GRCm39) V77G probably damaging Het
Muc4 C T 16: 32,596,177 (GRCm39) R3130C possibly damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nup107 A G 10: 117,593,179 (GRCm39) V833A probably benign Het
Or1p4-ps1 C T 11: 74,208,370 (GRCm39) S173L unknown Het
Or5m10b T C 2: 85,699,271 (GRCm39) F112L probably benign Het
Pcnx2 C T 8: 126,577,021 (GRCm39) probably null Het
Pde10a T A 17: 9,188,424 (GRCm39) I908N probably damaging Het
Plcb1 A G 2: 135,228,075 (GRCm39) K1058R probably benign Het
Rad17 A T 13: 100,759,383 (GRCm39) F548Y probably damaging Het
Rad54b T G 4: 11,569,859 (GRCm39) S58R possibly damaging Het
Rbm20 G A 19: 53,839,696 (GRCm39) G895D probably damaging Het
Rgs22 T C 15: 36,104,036 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,058,785 (GRCm39) S338P probably benign Het
Ruvbl2 A G 7: 45,074,373 (GRCm39) probably null Het
Slc16a12 A G 19: 34,650,007 (GRCm39) F343L probably benign Het
Slc22a28 A G 19: 8,041,875 (GRCm39) L444P possibly damaging Het
Slc44a4 A T 17: 35,147,044 (GRCm39) Q358L probably null Het
Sowaha A G 11: 53,369,225 (GRCm39) F504L probably benign Het
Syne1 A G 10: 5,125,789 (GRCm39) L6035P probably damaging Het
Thbs2 A T 17: 14,910,029 (GRCm39) M190K possibly damaging Het
Tmem171 A G 13: 98,824,950 (GRCm39) F227L possibly damaging Het
Trp53 A G 11: 69,479,307 (GRCm39) K162E possibly damaging Het
Ttn T A 2: 76,724,732 (GRCm39) K2098* probably null Het
Usp30 T C 5: 114,241,821 (GRCm39) S88P probably benign Het
Zfp276 C A 8: 123,981,643 (GRCm39) D63E 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
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
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'- CAGTGTAACTTTCTAAGATGGTCAGG -3'
(R):5'- TGGCATTTCACAGTCGGGAC -3'

Sequencing Primer
(F):5'- CAGATTCTAACTTTGACCACACTG -3'
(R):5'- GGGACGACTTTGTTCTCCCAAG -3'
Posted On 2018-11-28