Incidental Mutation 'R4334:Kng1'
ID 323712
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 041664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4334 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22898370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
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: V590A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: V590A

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 possibly damaging
Transcript: ENSMUST00000089902
AA Change: V409A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: V409A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,537,242 (GRCm39) V447E probably damaging Het
Adcyap1 T C 17: 93,509,696 (GRCm39) L49P probably benign Het
B4galt4 T C 16: 38,572,621 (GRCm39) I102T probably damaging Het
Cc2d2a A G 5: 43,840,476 (GRCm39) D110G probably benign Het
Ccdc141 C T 2: 77,000,776 (GRCm39) V19I probably damaging Het
Ccdc39 A G 3: 33,892,031 (GRCm39) L147P probably damaging Het
Cdc5l A T 17: 45,721,712 (GRCm39) D519E probably benign Het
Cdh23 G T 10: 60,220,838 (GRCm39) T1305K probably damaging Het
Cfi T A 3: 129,644,478 (GRCm39) V158D possibly damaging Het
Clstn2 T G 9: 97,345,581 (GRCm39) Y589S probably damaging Het
Dsp A G 13: 38,380,640 (GRCm39) K1863E possibly damaging Het
Enpp3 A T 10: 24,669,487 (GRCm39) M491K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fkbp15 G A 4: 62,221,456 (GRCm39) A1170V possibly damaging Het
Foxa2 T C 2: 147,886,623 (GRCm39) N64S possibly damaging Het
Foxm1 T C 6: 128,342,930 (GRCm39) I88T probably damaging Het
Gm3173 A T 14: 15,728,364 (GRCm39) I8L possibly damaging Het
Gpatch3 A G 4: 133,309,792 (GRCm39) D375G probably damaging Het
Herc2 T C 7: 55,876,402 (GRCm39) F4436L probably damaging Het
Htr3b G A 9: 48,856,809 (GRCm39) A223V probably damaging Het
Iars2 T A 1: 185,035,591 (GRCm39) T550S probably benign Het
Igsf9 A T 1: 172,321,779 (GRCm39) K149* probably null Het
Khnyn A G 14: 56,131,499 (GRCm39) D536G probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Madd C T 2: 90,970,917 (GRCm39) V1508I probably benign Het
Micall2 T C 5: 139,699,105 (GRCm39) E527G probably damaging Het
Myo7b A G 18: 32,110,040 (GRCm39) S1141P probably damaging Het
Ncoa2 G A 1: 13,245,187 (GRCm39) P504S possibly damaging Het
Notch1 G A 2: 26,350,048 (GRCm39) T2364I probably benign Het
Pde4c T A 8: 71,202,475 (GRCm39) probably null Het
Pik3cb A G 9: 98,943,904 (GRCm39) L633P probably damaging Het
Ranbp2 T A 10: 58,299,816 (GRCm39) D483E probably damaging Het
Sh3tc2 A G 18: 62,123,392 (GRCm39) N718D probably damaging Het
Spast G A 17: 74,659,010 (GRCm39) A126T probably damaging Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 C T 12: 103,045,233 (GRCm39) T803M probably benign Het
Vmn2r118 A T 17: 55,917,347 (GRCm39) F388L possibly damaging Het
Vmn2r71 T C 7: 85,269,042 (GRCm39) V415A probably benign Het
Wdr4 A T 17: 31,718,126 (GRCm39) F316Y possibly damaging Het
Zfp810 T C 9: 22,190,080 (GRCm39) Y276C 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
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
Predicted Primers PCR Primer
(F):5'- GTGTAAAGCAGACTACCCAGAG -3'
(R):5'- ACCTAGGCTGCGTAAGTTAAG -3'

Sequencing Primer
(F):5'- GAACAGAGTCTTTGGCAAGCTCTTC -3'
(R):5'- CTGCGTAAGTTAAGAAAGAGCATC -3'
Posted On 2015-06-24