Incidental Mutation 'R9388:Kng1'
ID |
710451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9388 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22898388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 596
(Y596F)
|
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: Y596F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: Y596F
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 damaging
Transcript: ENSMUST00000089902
AA Change: Y415F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087346 Gene: ENSMUSG00000022875 AA Change: Y415F
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,338,714 (GRCm39) |
T433S |
probably benign |
Het |
Abca14 |
A |
G |
7: 119,882,261 (GRCm39) |
D1141G |
probably benign |
Het |
Abca17 |
A |
G |
17: 24,483,273 (GRCm39) |
S1728P |
unknown |
Het |
Adam29 |
A |
C |
8: 56,325,285 (GRCm39) |
C390G |
probably damaging |
Het |
Angptl4 |
G |
A |
17: 33,996,158 (GRCm39) |
R273* |
probably null |
Het |
Arfgef3 |
T |
C |
10: 18,505,877 (GRCm39) |
N929S |
probably benign |
Het |
Baiap3 |
A |
G |
17: 25,466,109 (GRCm39) |
|
probably null |
Het |
Btla |
T |
C |
16: 45,059,454 (GRCm39) |
S53P |
probably damaging |
Het |
Cand1 |
A |
G |
10: 119,047,213 (GRCm39) |
F759S |
possibly damaging |
Het |
Cbll1 |
T |
C |
12: 31,541,567 (GRCm39) |
T104A |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,865,756 (GRCm39) |
M2688V |
possibly damaging |
Het |
Cnot3 |
C |
A |
7: 3,661,367 (GRCm39) |
H625Q |
possibly damaging |
Het |
Dbn1 |
T |
C |
13: 55,624,088 (GRCm39) |
I381V |
probably benign |
Het |
Dennd2d |
T |
A |
3: 106,395,915 (GRCm39) |
N135K |
possibly damaging |
Het |
Dnah7c |
T |
C |
1: 46,779,886 (GRCm39) |
I3196T |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,212,460 (GRCm39) |
R1227L |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 4,919,179 (GRCm39) |
E423G |
probably benign |
Het |
Ganab |
A |
G |
19: 8,892,302 (GRCm39) |
Q826R |
probably damaging |
Het |
Herc4 |
T |
A |
10: 63,143,522 (GRCm39) |
M684K |
probably benign |
Het |
Hipk2 |
A |
G |
6: 38,707,956 (GRCm39) |
L613P |
probably damaging |
Het |
Hpf1 |
A |
T |
8: 61,353,182 (GRCm39) |
I188L |
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
Kif1a |
C |
A |
1: 93,000,029 (GRCm39) |
|
probably null |
Het |
Lrrc8d |
T |
A |
5: 105,961,862 (GRCm39) |
H757Q |
probably damaging |
Het |
Med24 |
A |
T |
11: 98,600,893 (GRCm39) |
I600N |
possibly damaging |
Het |
Mmp10 |
G |
A |
9: 7,504,170 (GRCm39) |
W203* |
probably null |
Het |
Mnt |
C |
T |
11: 74,727,450 (GRCm39) |
A112V |
probably benign |
Het |
Myh7b |
A |
T |
2: 155,472,983 (GRCm39) |
N1415Y |
probably benign |
Het |
Nipal1 |
T |
A |
5: 72,825,557 (GRCm39) |
*417R |
probably null |
Het |
Nlrp4c |
C |
T |
7: 6,069,874 (GRCm39) |
Q592* |
probably null |
Het |
Obscn |
T |
C |
11: 58,943,489 (GRCm39) |
E4220G |
probably damaging |
Het |
Or10al7 |
C |
T |
17: 38,366,148 (GRCm39) |
C103Y |
probably damaging |
Het |
Or13a23-ps1 |
G |
T |
7: 140,118,928 (GRCm39) |
C166F |
unknown |
Het |
Or2w1b |
T |
C |
13: 21,300,774 (GRCm39) |
L304P |
probably damaging |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,853 (GRCm39) |
I460F |
probably benign |
Het |
Prb1b |
T |
C |
6: 132,289,437 (GRCm39) |
Q129R |
unknown |
Het |
Primpol |
G |
A |
8: 47,034,605 (GRCm39) |
T441I |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,011,380 (GRCm39) |
V583A |
possibly damaging |
Het |
Rfx6 |
T |
C |
10: 51,554,117 (GRCm39) |
V71A |
possibly damaging |
Het |
Rgsl1 |
T |
C |
1: 153,693,355 (GRCm39) |
I574V |
probably benign |
Het |
Rims3 |
A |
G |
4: 120,748,552 (GRCm39) |
I258V |
possibly damaging |
Het |
Sec16b |
T |
C |
1: 157,388,393 (GRCm39) |
Y776H |
probably benign |
Het |
Skint6 |
C |
T |
4: 113,049,838 (GRCm39) |
D276N |
possibly damaging |
Het |
Slc45a1 |
T |
C |
4: 150,727,067 (GRCm39) |
D184G |
probably damaging |
Het |
St6galnac4 |
A |
T |
2: 32,479,625 (GRCm39) |
S61C |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,876,312 (GRCm39) |
V926M |
probably damaging |
Het |
Stat1 |
A |
T |
1: 52,193,037 (GRCm39) |
K642N |
possibly damaging |
Het |
Tmprss3 |
A |
G |
17: 31,410,041 (GRCm39) |
F191S |
probably damaging |
Het |
Ube2o |
T |
C |
11: 116,430,210 (GRCm39) |
D1176G |
possibly damaging |
Het |
Usp17ld |
G |
T |
7: 102,900,145 (GRCm39) |
N262K |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,993,233 (GRCm39) |
K365E |
probably damaging |
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 |
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 |
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'- ACCCAGAGAACAGAGTCTTTG -3'
(R):5'- TGTGAAGCTACCTAGGCTGC -3'
Sequencing Primer
(F):5'- ACAGAGTCTTTGGCAAGCTC -3'
(R):5'- CTACCTAGGCTGCGTAAGTTAAG -3'
|
Posted On |
2022-04-18 |