Incidental Mutation 'R3607:Kng1'
ID 269137
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 040671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3607 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22886552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 112 (F112L)
Ref Sequence ENSEMBL: ENSMUSP00000121701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023589] [ENSMUST00000039492] [ENSMUST00000089902] [ENSMUST00000125790]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023589
AA Change: F166L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: F166L

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 damaging
Transcript: ENSMUST00000039492
AA Change: F166L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: F166L

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: F166L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: F166L

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 damaging
Transcript: ENSMUST00000125790
AA Change: F112L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
AA Change: F112L

DomainStartEndE-ValueType
Pfam:Cystatin 1 62 6.5e-11 PFAM
Pfam:Cystatin 89 134 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136778
Meta Mutation Damage Score 0.4926 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik C A 9: 53,191,083 (GRCm39) noncoding transcript Het
Adnp2 A T 18: 80,172,284 (GRCm39) N708K probably damaging Het
Arhgef17 C A 7: 100,580,379 (GRCm39) G190W probably damaging Het
Aspm T A 1: 139,408,406 (GRCm39) M2431K probably benign Het
Aurkc A G 7: 7,005,859 (GRCm39) Y157C probably damaging Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Etv1 A G 12: 38,881,085 (GRCm39) Y66C probably damaging Het
F830016B08Rik A T 18: 60,433,780 (GRCm39) K288* probably null Het
Fam131a C T 16: 20,520,345 (GRCm39) P181L probably damaging Het
Fat2 T A 11: 55,172,511 (GRCm39) E2734V probably damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gmfg T A 7: 28,140,961 (GRCm39) probably null Het
Gtpbp8 T C 16: 44,564,119 (GRCm39) Y184C probably damaging Het
Heatr5b T C 17: 79,141,646 (GRCm39) E2G probably damaging Het
Itpr2 T G 6: 146,129,099 (GRCm39) T2005P probably damaging Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lpin2 T A 17: 71,536,387 (GRCm39) D225E probably damaging Het
Myom2 T C 8: 15,119,775 (GRCm39) V177A probably damaging Het
Nkrf T G X: 36,153,730 (GRCm39) N184T probably benign Het
Nt5c1b A G 12: 10,427,236 (GRCm39) N329D probably damaging Het
Ogdhl T A 14: 32,057,318 (GRCm39) V308E probably damaging Het
Or14a258 A G 7: 86,034,903 (GRCm39) C322R probably benign Het
Pcnx1 T A 12: 81,975,066 (GRCm39) F791I probably damaging Het
Prkg2 G T 5: 99,095,236 (GRCm39) T616K probably damaging Het
Psmd3 C T 11: 98,581,780 (GRCm39) R302W probably damaging Het
Ptpn1 A G 2: 167,817,427 (GRCm39) S355G probably benign Het
Pxdn A G 12: 30,040,917 (GRCm39) N398D probably benign Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rgl3 A G 9: 21,898,987 (GRCm39) S151P probably damaging Het
Rnf213 C A 11: 119,332,802 (GRCm39) C2670* probably null Het
Tex16 T A X: 111,003,667 (GRCm39) S159T probably damaging Het
Tnfaip3 A G 10: 18,881,350 (GRCm39) I312T probably damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Trpm7 T C 2: 126,638,348 (GRCm39) probably benign Het
Usp11 T G X: 20,580,871 (GRCm39) F426L probably damaging Het
Vcan G T 13: 89,851,420 (GRCm39) T1180K probably damaging Het
Wasf1 G C 10: 40,812,380 (GRCm39) A390P unknown Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V 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
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'- TCAGGATCTTTCTAAATGGTCTCAG -3'
(R):5'- AAACACGGGCACTCTAGGAC -3'

Sequencing Primer
(F):5'- CTAAATGGTCTCAGGGGTTTAGGAC -3'
(R):5'- ACTCTAGGACGATGCCAGCATG -3'
Posted On 2015-02-19