Incidental Mutation 'R5461:Kng1'
ID |
433048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
043023-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5461 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22897887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 429
(H429R)
|
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: H429R
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: H429R
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
0.1134 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (57/57) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,643 (GRCm39) |
I405K |
possibly damaging |
Het |
4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,296,248 (GRCm39) |
W1079R |
probably damaging |
Het |
Arsa |
T |
C |
15: 89,357,478 (GRCm39) |
H495R |
probably benign |
Het |
Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,541,643 (GRCm39) |
L152P |
probably damaging |
Het |
C8a |
T |
C |
4: 104,673,042 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
G |
A |
12: 80,804,816 (GRCm39) |
A486V |
unknown |
Het |
Cpa2 |
A |
G |
6: 30,544,180 (GRCm39) |
T38A |
probably benign |
Het |
Crim1 |
T |
G |
17: 78,545,236 (GRCm39) |
C133G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,364,177 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,824,550 (GRCm39) |
Q2392* |
probably null |
Het |
Exoc2 |
C |
T |
13: 31,109,738 (GRCm39) |
S210N |
possibly damaging |
Het |
Gm7003 |
A |
G |
12: 113,766,847 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,245,863 (GRCm39) |
K2192R |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,010 (GRCm39) |
D176G |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,246,693 (GRCm39) |
E8K |
possibly damaging |
Het |
Itgb8 |
T |
C |
12: 119,131,740 (GRCm39) |
E635G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
T |
C |
1: 20,884,661 (GRCm39) |
I281V |
probably benign |
Het |
Msi1 |
T |
C |
5: 115,579,450 (GRCm39) |
S200P |
possibly damaging |
Het |
Nat3 |
T |
C |
8: 68,000,514 (GRCm39) |
L131P |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,104,177 (GRCm39) |
E1752G |
probably damaging |
Het |
Nnt |
C |
T |
13: 119,505,131 (GRCm39) |
A414T |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,786,370 (GRCm39) |
Q292* |
probably null |
Het |
Or51ah3 |
T |
A |
7: 103,209,780 (GRCm39) |
L32Q |
probably damaging |
Het |
Or52k2 |
G |
A |
7: 102,253,615 (GRCm39) |
G18D |
probably damaging |
Het |
Otop1 |
A |
T |
5: 38,457,059 (GRCm39) |
I273F |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,920,694 (GRCm39) |
N177K |
probably benign |
Het |
Pik3c2b |
C |
T |
1: 133,027,440 (GRCm39) |
T1313I |
possibly damaging |
Het |
Pikfyve |
C |
A |
1: 65,274,192 (GRCm39) |
D677E |
probably damaging |
Het |
Poc1a |
T |
C |
9: 106,165,209 (GRCm39) |
F157L |
probably damaging |
Het |
Prodh2 |
G |
T |
7: 30,193,948 (GRCm39) |
R185L |
possibly damaging |
Het |
Rcc1 |
T |
C |
4: 132,061,497 (GRCm39) |
I350M |
probably benign |
Het |
Rhd |
G |
A |
4: 134,611,928 (GRCm39) |
A249T |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,252 (GRCm39) |
Y57C |
probably damaging |
Het |
Shmt1 |
A |
G |
11: 60,685,725 (GRCm39) |
S284P |
possibly damaging |
Het |
Shpk |
T |
C |
11: 73,090,361 (GRCm39) |
V6A |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,262,836 (GRCm39) |
V661A |
probably benign |
Het |
Spesp1 |
A |
T |
9: 62,180,014 (GRCm39) |
L298Q |
probably damaging |
Het |
Tas1r2 |
C |
A |
4: 139,387,320 (GRCm39) |
Q231K |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,518,856 (GRCm39) |
Y280C |
probably benign |
Het |
Tnip1 |
T |
C |
11: 54,801,625 (GRCm39) |
|
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,192,395 (GRCm39) |
D295E |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,078,397 (GRCm39) |
L1521F |
probably damaging |
Het |
Usp10 |
T |
C |
8: 120,683,406 (GRCm39) |
I759T |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,759 (GRCm39) |
C24* |
probably null |
Het |
Vmn2r104 |
T |
A |
17: 20,250,343 (GRCm39) |
I643F |
probably damaging |
Het |
Wwc1 |
T |
A |
11: 35,758,199 (GRCm39) |
T716S |
probably damaging |
Het |
Zfp949 |
C |
T |
9: 88,451,537 (GRCm39) |
T369M |
probably benign |
Het |
Zhx3 |
A |
G |
2: 160,621,938 (GRCm39) |
V743A |
probably benign |
Het |
|
Other mutations in Kng1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TCCTCTGTAGACTGAAATGGCAAG -3'
(R):5'- CTGGGTAGTCTGCTTTACACTG -3'
Sequencing Primer
(F):5'- GCAAGAAGGCCTCCAGGTTTTTC -3'
(R):5'- ATGACCATGACCATGTCCGTG -3'
|
Posted On |
2016-10-06 |