Incidental Mutation 'R7142:Kng1'
ID 553498
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 045250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7142 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 22876970-22900828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22898170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 523 (H523Q)
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: H523Q

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H523Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,446 (GRCm39) H290L probably damaging Het
Abca1 T A 4: 53,082,050 (GRCm39) S737C probably damaging Het
Abca14 G C 7: 119,850,406 (GRCm39) V753L possibly damaging Het
Adgrl1 C T 8: 84,663,829 (GRCm39) H1099Y probably benign Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Aldh1l1 G A 6: 90,540,398 (GRCm39) D228N probably damaging Het
Cacna1e G T 1: 154,288,230 (GRCm39) Q1883K probably damaging Het
Caskin2 A G 11: 115,697,562 (GRCm39) Y125H probably benign Het
Ccdc85a A T 11: 28,527,192 (GRCm39) Y139N probably damaging Het
Cd93 C T 2: 148,283,725 (GRCm39) W540* probably null Het
Cdh3 G A 8: 107,271,860 (GRCm39) probably null Het
Chmp2b G A 16: 65,343,794 (GRCm39) Q88* probably null Het
Cpt1a T C 19: 3,425,100 (GRCm39) M489T probably benign Het
Ctsk G A 3: 95,414,259 (GRCm39) V274M possibly damaging Het
Cyp3a44 A G 5: 145,714,771 (GRCm39) V460A probably benign Het
Cypt4 C T 9: 24,536,740 (GRCm39) R77* probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah7a A T 1: 53,452,927 (GRCm39) Y3850* probably null Het
Drosha A T 15: 12,924,232 (GRCm39) T1205S possibly damaging Het
Eif3j2 T C 18: 43,610,465 (GRCm39) E116G probably damaging Het
Ercc5 A G 1: 44,213,374 (GRCm39) E790G probably damaging Het
Fam163b C T 2: 27,003,567 (GRCm39) R29Q probably damaging Het
Fbxo44 C T 4: 148,243,269 (GRCm39) G50E unknown Het
Foxo3 T C 10: 42,150,591 (GRCm39) probably null Het
Gnal C T 18: 67,351,599 (GRCm39) P386L probably damaging Het
Gpc5 T A 14: 115,654,615 (GRCm39) H478Q probably benign Het
Grhl2 A T 15: 37,279,826 (GRCm39) D178V probably benign Het
Gtf2i C A 5: 134,273,705 (GRCm39) V755L possibly damaging Het
Hal T C 10: 93,336,513 (GRCm39) V414A possibly damaging Het
Hmx2 T C 7: 131,157,465 (GRCm39) V193A probably damaging Het
Il17a T A 1: 20,802,327 (GRCm39) M12K probably benign Het
Invs T A 4: 48,407,696 (GRCm39) I557N probably damaging Het
Lrp4 T A 2: 91,325,339 (GRCm39) I1388N probably damaging Het
Mboat4 A G 8: 34,587,291 (GRCm39) I63V probably benign Het
Mcoln2 G A 3: 145,889,324 (GRCm39) probably null Het
Mgat5 A T 1: 127,339,924 (GRCm39) D435V probably damaging Het
Mri1 C A 8: 84,983,753 (GRCm39) R46L probably damaging Het
Mxra8 A T 4: 155,927,519 (GRCm39) Y409F probably benign Het
Nlrp1b T A 11: 71,062,901 (GRCm39) R720* probably null Het
Ofcc1 T C 13: 40,157,538 (GRCm39) I887V probably benign Het
Or5l13 T C 2: 87,780,056 (GRCm39) I174V probably benign Het
Otud4 T A 8: 80,399,391 (GRCm39) probably null Het
P3h1 T A 4: 119,104,358 (GRCm39) D626E probably benign Het
Pde2a A T 7: 101,153,857 (GRCm39) D485V probably damaging Het
Phldb2 G A 16: 45,577,539 (GRCm39) R1129* probably null Het
Pkn1 T C 8: 84,420,596 (GRCm39) E10G possibly damaging Het
Psd2 A G 18: 36,113,097 (GRCm39) D264G possibly damaging Het
Psg29 A G 7: 16,944,546 (GRCm39) D352G probably damaging Het
Rgs14 T C 13: 55,527,417 (GRCm39) S218P probably damaging Het
Sec14l2 T C 11: 4,048,379 (GRCm39) T380A probably benign Het
Septin12 T C 16: 4,806,226 (GRCm39) T312A unknown Het
Skint5 A T 4: 113,428,791 (GRCm39) V1075E unknown Het
Ston2 A G 12: 91,614,009 (GRCm39) S800P probably damaging Het
Tmem106b A G 6: 13,081,564 (GRCm39) N157S probably damaging Het
Tmem132b G A 5: 125,699,737 (GRCm39) G133S probably damaging Het
Tmie A T 9: 110,699,749 (GRCm39) M55K possibly damaging Het
Trpc6 A T 9: 8,653,017 (GRCm39) R608* probably null Het
Unc93a2 G A 17: 7,644,021 (GRCm39) T96I probably damaging Het
Usp35 A G 7: 96,960,754 (GRCm39) S891P probably damaging Het
Vmn1r178 A G 7: 23,593,035 (GRCm39) T28A probably damaging Het
Wnk1 T A 6: 119,926,240 (GRCm39) M1324L probably benign Het
Wrnip1 C A 13: 32,986,616 (GRCm39) S132R possibly damaging Het
Wsb1 T C 11: 79,141,814 (GRCm39) K68E probably benign Het
Zfp433 A T 10: 81,556,040 (GRCm39) K181* probably null 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
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
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'- AAACCACATGGCCTTGGTC -3'
(R):5'- ATGGGCCCCAGTGTCATATG -3'

Sequencing Primer
(F):5'- GCCTTGGTCATGGACATCAAC -3'
(R):5'- TGAAATCTGAGTCCTGAAAACCAG -3'
Posted On 2019-05-15