Incidental Mutation 'R4388:Kng1'
ID 326321
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 041125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4388 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22898068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 489 (H489Q)
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: H489Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H489Q

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 benign
Transcript: ENSMUST00000089902
SMART Domains Protein: ENSMUSP00000087346
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 noncoding transcript
Transcript: ENSMUST00000136778
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 86% (31/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,693 (GRCm39) probably null Het
Adgrv1 T C 13: 81,729,828 (GRCm39) T218A probably damaging Het
Aldh1l2 T C 10: 83,349,486 (GRCm39) D254G probably damaging Het
Arpc4 A G 6: 113,362,458 (GRCm39) D36G probably damaging Het
Cd209b A G 8: 3,975,960 (GRCm39) L67P probably damaging Het
Cldn20 G A 17: 3,583,485 (GRCm39) M219I probably benign Het
Dmxl2 G A 9: 54,303,551 (GRCm39) P2308S probably damaging Het
Fancd2 A G 6: 113,533,329 (GRCm39) I549V probably damaging Het
Galnt2 T C 8: 125,022,192 (GRCm39) probably null Het
Galnt9 A G 5: 110,736,257 (GRCm39) D191G probably damaging Het
Hgf T A 5: 16,819,941 (GRCm39) H557Q probably benign Het
Ifna12 T C 4: 88,521,346 (GRCm39) D67G probably benign Het
Igf1r A G 7: 67,819,757 (GRCm39) I356V probably benign Het
Itih1 A G 14: 30,663,512 (GRCm39) V164A possibly damaging Het
Kcnc1 C A 7: 46,047,126 (GRCm39) R9S possibly damaging Het
Kmt2b A C 7: 30,288,015 (GRCm39) probably benign Het
Kmt2d C T 15: 98,751,507 (GRCm39) probably benign Het
Larp7-ps A T 4: 92,079,351 (GRCm39) S157T probably benign Het
Map4k5 C A 12: 69,892,583 (GRCm39) M115I probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Naca T C 10: 127,880,661 (GRCm39) S1898P probably damaging Het
Nlrp4e A G 7: 23,000,902 (GRCm39) K66E probably benign Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Pex26 A G 6: 121,161,351 (GRCm39) D43G probably damaging Het
Prr14l A G 5: 32,986,598 (GRCm39) S966P probably damaging Het
Recql4 A G 15: 76,590,158 (GRCm39) S659P probably benign Het
Serpina3n C A 12: 104,377,616 (GRCm39) Q290K probably benign Het
Sft2d1 A G 17: 8,539,469 (GRCm39) K91E possibly damaging Het
Slc25a16 T C 10: 62,764,105 (GRCm39) V54A probably benign Het
Svep1 A G 4: 58,069,249 (GRCm39) Y2846H possibly damaging Het
Ttll2 T A 17: 7,618,599 (GRCm39) R443* probably null Het
Uty A G Y: 1,151,956 (GRCm39) S795P possibly damaging Het
Xrcc5 T A 1: 72,369,189 (GRCm39) S348T possibly 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
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'- CTACATTGCCAGGGAGCAAG -3'
(R):5'- GCTTGCCAAAGACTCTGTTC -3'

Sequencing Primer
(F):5'- ACACATGGGCATGGCTG -3'
(R):5'- CCAAAGACTCTGTTCTCTGGGTAG -3'
Posted On 2015-07-06