Incidental Mutation 'R3014:Kng1'
ID 257614
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 040535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3014 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22898120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 507 (H507Y)
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: H507Y

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H507Y

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 G T 2: 151,771,517 (GRCm39) V278L probably benign Het
Dmbt1 A G 7: 130,633,827 (GRCm39) probably benign Het
Dnah2 A T 11: 69,321,304 (GRCm39) N3921K probably benign Het
Duxf4 G A 10: 58,071,356 (GRCm39) T286I possibly damaging Het
Fam193a A T 5: 34,623,016 (GRCm39) E1201D probably benign Het
Gm10220 G C 5: 26,322,826 (GRCm39) D195E probably damaging Het
Gmps A G 3: 63,922,857 (GRCm39) K607E possibly damaging Het
Gprin1 T A 13: 54,886,288 (GRCm39) D662V probably benign Het
Gria4 A G 9: 4,464,294 (GRCm39) I556T probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcar2 A T 5: 124,002,768 (GRCm39) V245E probably damaging Het
Hmces T G 6: 87,894,823 (GRCm39) D62E probably benign Het
Ighv1-4 T A 12: 114,450,769 (GRCm39) Y113F possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lypd10 A G 7: 24,412,821 (GRCm39) I76M possibly damaging Het
Map3k5 A T 10: 19,970,175 (GRCm39) Y694F probably damaging Het
Myo1a T G 10: 127,552,214 (GRCm39) F778V probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad1 A G 11: 50,875,534 (GRCm39) D2G probably benign Het
Or4l1 G A 14: 50,166,489 (GRCm39) H171Y probably benign Het
Or6aa1 A G 7: 86,043,884 (GRCm39) V274A probably benign Het
Or6z6 A T 7: 6,491,470 (GRCm39) Y134* probably null Het
Parp3 C A 9: 106,348,514 (GRCm39) S507I possibly damaging Het
Ppip5k2 T A 1: 97,671,800 (GRCm39) T491S probably damaging Het
Psmg1 T A 16: 95,781,248 (GRCm39) I266F probably damaging Het
Ptpn23 T C 9: 110,218,763 (GRCm39) T476A probably benign Het
Rttn G C 18: 89,032,744 (GRCm39) V671L probably damaging Het
Srsf7 T C 17: 80,508,990 (GRCm39) E235G unknown Het
Sv2a G A 3: 96,096,751 (GRCm39) W416* probably null Het
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tenm2 T C 11: 35,914,800 (GRCm39) T2245A probably damaging Het
Vmn2r13 T A 5: 109,319,627 (GRCm39) H451L possibly damaging Het
Xkr6 T C 14: 64,056,793 (GRCm39) Y235H unknown 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
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
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'- ATGACCATGGCCATTGGTCC -3'
(R):5'- ATCTGAGTCCTGAAAACCAGAAGAG -3'

Sequencing Primer
(F):5'- TTGGTCCCCAAGGAGGCATG -3'
(R):5'- AACAGTTGGCTGGGCTCG -3'
Posted On 2015-01-11