Incidental Mutation 'R9005:Kng1'
ID 685247
Institutional Source Beutler Lab
Gene Symbol Kng1
Ensembl Gene ENSMUSG00000022875
Gene Name kininogen 1
Synonyms L-kininogen, H-kininigen
MMRRC Submission 068835-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9005 (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 22898146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 515 (H515Q)
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 damaging
Transcript: ENSMUST00000023589
AA Change: H515Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H515Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (80/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik C T 19: 21,630,075 (GRCm39) probably benign Het
Abcd4 C T 12: 84,655,356 (GRCm39) W369* probably null Het
Abcf3 A G 16: 20,368,056 (GRCm39) E98G probably benign Het
Acaca A T 11: 84,262,410 (GRCm39) D2004V probably damaging Het
Acot5 G C 12: 84,116,630 (GRCm39) M130I Het
Adamts3 C T 5: 89,825,693 (GRCm39) E1049K probably benign Het
Agfg2 A T 5: 137,650,744 (GRCm39) L456Q probably damaging Het
Agtr1b T A 3: 20,370,343 (GRCm39) T88S possibly damaging Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ankrd61 T A 5: 143,831,676 (GRCm39) T43S probably benign Het
Apcs A G 1: 172,721,776 (GRCm39) L190P probably benign Het
Arsg A G 11: 109,381,346 (GRCm39) K30E probably benign Het
Banp A T 8: 122,705,441 (GRCm39) M104L possibly damaging Het
Caskin1 A G 17: 24,718,111 (GRCm39) Q268R probably benign Het
Ccdc112 A G 18: 46,429,455 (GRCm39) V81A probably damaging Het
Cfap44 T C 16: 44,280,517 (GRCm39) I1432T probably damaging Het
Chd2 A T 7: 73,134,294 (GRCm39) N684K probably damaging Het
Creb1 T C 1: 64,605,478 (GRCm39) probably null Het
Ctsc C T 7: 87,927,502 (GRCm39) T31I probably damaging Het
Cttnbp2 C A 6: 18,434,430 (GRCm39) R476L probably damaging Het
Cwf19l1 T C 19: 44,111,653 (GRCm39) D260G possibly damaging Het
Cyp24a1 A T 2: 170,336,005 (GRCm39) S211T probably damaging Het
Ddx3y T C Y: 1,282,919 (GRCm39) N46D probably damaging Het
Dgkz G T 2: 91,769,090 (GRCm39) H653Q probably benign Het
Dnajc16 A T 4: 141,491,945 (GRCm39) I626N possibly damaging Het
Dsc2 T C 18: 20,171,151 (GRCm39) D616G probably benign Het
Dscam A T 16: 96,602,580 (GRCm39) S621T probably damaging Het
Dst T A 1: 34,267,774 (GRCm39) V3058E probably damaging Het
Ep400 A T 5: 110,858,959 (GRCm39) C1125S unknown Het
Glyatl3 G A 17: 41,223,619 (GRCm39) Q41* probably null Het
Gm7694 T G 1: 170,128,927 (GRCm39) I201L probably damaging Het
Gnal C T 18: 67,221,830 (GRCm39) R78* probably null Het
Gtf3c1 T C 7: 125,303,069 (GRCm39) D122G probably benign Het
Htt G T 5: 34,975,095 (GRCm39) D622Y possibly damaging Het
Igkv4-92 A G 6: 68,732,081 (GRCm39) C98R probably benign Het
Incenp G A 19: 9,855,088 (GRCm39) R608* probably null Het
Kics2 A G 10: 121,586,501 (GRCm39) Y272C probably damaging Het
Kif3c G A 12: 3,451,706 (GRCm39) R679H probably damaging Het
Lamb2 T C 9: 108,361,370 (GRCm39) probably null Het
Malrd1 A T 2: 15,850,140 (GRCm39) N1253I unknown Het
Map3k21 A T 8: 126,637,471 (GRCm39) D19V Het
Marchf2 G T 17: 33,915,207 (GRCm39) P129Q probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Ms4a4d T A 19: 11,533,564 (GRCm39) D148E possibly damaging Het
Myl4 A G 11: 104,468,384 (GRCm39) D36G probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2a25 T C 6: 42,889,170 (GRCm39) S238P probably damaging Het
Or5ac24 A T 16: 59,165,929 (GRCm39) I45N probably damaging Het
Or5an11 A G 19: 12,245,704 (GRCm39) T37A probably benign Het
Pard3 G A 8: 128,003,647 (GRCm39) S123N probably damaging Het
Parp8 T C 13: 117,013,126 (GRCm39) N638D probably benign Het
Pgpep1l A T 7: 67,887,406 (GRCm39) S65T probably damaging Het
Ppp1r13b A G 12: 111,796,708 (GRCm39) V1068A probably benign Het
Pramel20 G A 4: 143,298,425 (GRCm39) D123N probably benign Het
Prkd1 G A 12: 50,430,185 (GRCm39) Q641* probably null Het
Ptgr2 T C 12: 84,344,873 (GRCm39) V82A possibly damaging Het
Rbm34 G A 8: 127,686,332 (GRCm39) P225S possibly damaging Het
Rnps1 A T 17: 24,637,496 (GRCm39) K46I unknown Het
Shank1 T C 7: 44,002,409 (GRCm39) V1376A probably benign Het
Ski A T 4: 155,306,317 (GRCm39) Y221N probably damaging Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Slit2 G A 5: 48,459,860 (GRCm39) C1380Y possibly damaging Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Spdl1 C A 11: 34,700,535 (GRCm39) C605F possibly damaging Het
Syne1 C A 10: 5,155,406 (GRCm39) D5568Y probably benign Het
Tac1 C A 6: 7,559,141 (GRCm39) A111D possibly damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnfrsf1a T C 6: 125,333,878 (GRCm39) C44R probably damaging Het
Traf3ip3 T C 1: 192,864,285 (GRCm39) Q366R probably benign Het
Trip10 A G 17: 57,569,416 (GRCm39) D479G probably damaging Het
Trip11 T C 12: 101,845,131 (GRCm39) T1536A probably benign Het
Tstd3 G T 4: 21,767,082 (GRCm39) A13E possibly damaging Het
Urb1 T C 16: 90,550,678 (GRCm39) K2058R probably benign Het
Usp15 A T 10: 122,982,703 (GRCm39) I304N possibly damaging Het
Usp18 T G 6: 121,229,529 (GRCm39) H49Q probably benign Het
Vmn1r56 T A 7: 5,199,389 (GRCm39) D76V probably damaging Het
Wnk1 A G 6: 119,939,393 (GRCm39) S167P probably damaging Het
Zfp229 G A 17: 21,965,731 (GRCm39) A654T possibly damaging Het
Zfp977 C T 7: 42,230,082 (GRCm39) V148I probably benign Het
Znfx1 A T 2: 166,880,656 (GRCm39) I1240N 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
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
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'- ATGGCCTTGGTCATGGACAC -3'
(R):5'- CCACATCTTCAATGAAATCTGAGTCC -3'

Sequencing Primer
(F):5'- TTGGTCATGGACACCAGAAAC -3'
(R):5'- TGAAATCTGAGTCCTGAAAACCAG -3'
Posted On 2021-10-11