Incidental Mutation 'R3014:Kng1'
ID |
257614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
040535-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3014 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 22898120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 507
(H507Y)
|
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: H507Y
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: H507Y
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
Duxf4 |
G |
A |
10: 58,071,356 (GRCm39) |
T286I |
possibly damaging |
Het |
Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,886,288 (GRCm39) |
D662V |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcar2 |
A |
T |
5: 124,002,768 (GRCm39) |
V245E |
probably damaging |
Het |
Hmces |
T |
G |
6: 87,894,823 (GRCm39) |
D62E |
probably benign |
Het |
Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
Sv2a |
G |
A |
3: 96,096,751 (GRCm39) |
W416* |
probably null |
Het |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
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 |
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 |
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'- ATGACCATGGCCATTGGTCC -3'
(R):5'- ATCTGAGTCCTGAAAACCAGAAGAG -3'
Sequencing Primer
(F):5'- TTGGTCCCCAAGGAGGCATG -3'
(R):5'- AACAGTTGGCTGGGCTCG -3'
|
Posted On |
2015-01-11 |