Incidental Mutation 'R4334:Kng1'
ID |
323712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
041664-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4334 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22898370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 409
(V409A)
|
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 benign
Transcript: ENSMUST00000023589
AA Change: V590A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: V590A
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 |
possibly damaging
Transcript: ENSMUST00000089902
AA Change: V409A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087346 Gene: ENSMUSG00000022875 AA Change: V409A
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
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 |
|
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'- GTGTAAAGCAGACTACCCAGAG -3'
(R):5'- ACCTAGGCTGCGTAAGTTAAG -3'
Sequencing Primer
(F):5'- GAACAGAGTCTTTGGCAAGCTCTTC -3'
(R):5'- CTGCGTAAGTTAAGAAAGAGCATC -3'
|
Posted On |
2015-06-24 |