Incidental Mutation 'R3607:Kng1'
ID |
269137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
040671-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3607 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22886552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 112
(F112L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023589]
[ENSMUST00000039492]
[ENSMUST00000089902]
[ENSMUST00000125790]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023589
AA Change: F166L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: F166L
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 damaging
Transcript: ENSMUST00000039492
AA Change: F166L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040485 Gene: ENSMUSG00000022875 AA Change: F166L
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: F166L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087346 Gene: ENSMUSG00000022875 AA Change: F166L
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: ENSMUST00000125790
AA Change: F112L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121701 Gene: ENSMUSG00000022875 AA Change: F112L
Domain | Start | End | E-Value | Type |
Pfam:Cystatin
|
1 |
62 |
6.5e-11 |
PFAM |
Pfam:Cystatin
|
89 |
134 |
1.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136778
|
Meta Mutation Damage Score |
0.4926 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
Validation Efficiency |
98% (48/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
Adnp2 |
A |
T |
18: 80,172,284 (GRCm39) |
N708K |
probably damaging |
Het |
Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly 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 |
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'- TCAGGATCTTTCTAAATGGTCTCAG -3'
(R):5'- AAACACGGGCACTCTAGGAC -3'
Sequencing Primer
(F):5'- CTAAATGGTCTCAGGGGTTTAGGAC -3'
(R):5'- ACTCTAGGACGATGCCAGCATG -3'
|
Posted On |
2015-02-19 |