Incidental Mutation 'R4558:Kng1'
ID |
342958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
042005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4558 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
splice site (37 bp from exon) |
DNA Base Change (assembly) |
C to A
at 22896168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023589]
[ENSMUST00000039492]
[ENSMUST00000089902]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000023589
|
SMART Domains |
Protein: ENSMUSP00000023589 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 |
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 null
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 null
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (36/36) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
Acot11 |
T |
C |
4: 106,605,563 (GRCm39) |
N583S |
probably damaging |
Het |
Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,884,851 (GRCm39) |
M279K |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,542 (GRCm39) |
M1V |
probably null |
Het |
Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
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 |
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'- TCCAGATTCTAACTTTGACCACAC -3'
(R):5'- TTGGAATAGACAGAACTGACCCC -3'
Sequencing Primer
(F):5'- GATTCTAACTTTGACCACACTGAAG -3'
(R):5'- TAGACAGAACTGACCCCAAGCTG -3'
|
Posted On |
2015-09-24 |