Incidental Mutation 'R4322:Kng1'
ID 323889
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 041093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4322 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 22898270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 557 (M557L)
Ref Sequence ENSEMBL: ENSMUSP00000023589 (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: M557L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: M557L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 94% (48/51)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 G A 4: 154,751,701 (GRCm39) A145V probably damaging Het
Allc C A 12: 28,604,023 (GRCm39) L353F probably benign Het
Alx3 C T 3: 107,502,691 (GRCm39) P67L probably benign Het
Arhgef10l C A 4: 140,270,037 (GRCm39) G882V probably benign Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Bdp1 T A 13: 100,228,731 (GRCm39) N299I probably damaging Het
Ccdc80 G T 16: 44,915,951 (GRCm39) V236L probably damaging Het
Cdhr2 A T 13: 54,881,534 (GRCm39) I1085L probably benign Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Dnajb14 G A 3: 137,591,060 (GRCm39) G54S probably damaging Het
Fyb1 T A 15: 6,610,300 (GRCm39) L291Q possibly damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm12250 G A 11: 58,079,126 (GRCm39) noncoding transcript Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,367,707 (GRCm39) F83S probably damaging Het
Lmcd1 A G 6: 112,292,724 (GRCm39) E192G possibly damaging Het
Lrp2 C A 2: 69,256,335 (GRCm39) E4602* probably null Het
Mc4r T C 18: 66,992,121 (GRCm39) R331G probably benign Het
Mybpc3 A G 2: 90,954,306 (GRCm39) D393G possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or4c10b A G 2: 89,712,078 (GRCm39) K303E probably benign Het
Or5p69 C T 7: 107,967,555 (GRCm39) P286L probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Pot1a T C 6: 25,745,929 (GRCm39) T591A probably benign Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3rf2 A T 18: 42,244,464 (GRCm39) H310L probably damaging Het
Shld2 G T 14: 33,981,632 (GRCm39) T502K probably damaging Het
Srgap1 T C 10: 121,705,711 (GRCm39) K238E probably damaging Het
Ssc5d C T 7: 4,931,449 (GRCm39) R219C probably damaging Het
Them5 C A 3: 94,253,463 (GRCm39) H158N probably damaging Het
Vmn1r203 A T 13: 22,708,408 (GRCm39) N63I probably damaging Het
Vps41 T A 13: 19,007,960 (GRCm39) F264L probably damaging Het
Vtn A T 11: 78,390,916 (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
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
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'- GCCTTGGTCATGGACATCAAC -3'
(R):5'- GGCTATCTGGCTGTACATGG -3'

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