Incidental Mutation 'R9689:Kng1'
ID |
729078 |
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 # |
R9689 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22879224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 96
(F96S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023589
(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: F96S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: F96S
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: F96S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040485 Gene: ENSMUSG00000022875 AA Change: F96S
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: F96S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087346 Gene: ENSMUSG00000022875 AA Change: F96S
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: F42S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121701 Gene: ENSMUSG00000022875 AA Change: F42S
Domain | Start | End | E-Value | Type |
Pfam:Cystatin
|
1 |
62 |
6.5e-11 |
PFAM |
Pfam:Cystatin
|
89 |
134 |
1.1e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
A |
5: 81,942,780 (GRCm39) |
V1538E |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,631,253 (GRCm39) |
V1833A |
probably benign |
Het |
Apc2 |
G |
A |
10: 80,150,733 (GRCm39) |
R1929Q |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,474,708 (GRCm39) |
I85V |
probably damaging |
Het |
Bco2 |
A |
T |
9: 50,445,938 (GRCm39) |
I486K |
probably damaging |
Het |
Braf |
T |
A |
6: 39,591,084 (GRCm39) |
I792F |
probably damaging |
Het |
Cacng2 |
T |
C |
15: 77,879,399 (GRCm39) |
K308E |
possibly damaging |
Het |
Ccr6 |
G |
T |
17: 8,475,821 (GRCm39) |
R342L |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,341,108 (GRCm39) |
I802F |
probably benign |
Het |
Cftr |
T |
C |
6: 18,313,649 (GRCm39) |
I1291T |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,120,030 (GRCm39) |
D50E |
possibly damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,170 (GRCm39) |
Y448C |
probably benign |
Het |
Cntnap1 |
T |
C |
11: 101,072,178 (GRCm39) |
I477T |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,916,578 (GRCm39) |
Q366* |
probably null |
Het |
Csf3 |
C |
A |
11: 98,592,949 (GRCm39) |
A104D |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,660,015 (GRCm39) |
H422R |
unknown |
Het |
Dnah12 |
A |
G |
14: 26,590,871 (GRCm39) |
D3325G |
probably null |
Het |
Dnah17 |
T |
C |
11: 117,963,731 (GRCm39) |
D2514G |
probably damaging |
Het |
Fgf9 |
T |
A |
14: 58,310,680 (GRCm39) |
H56Q |
probably damaging |
Het |
Fgfr3 |
A |
T |
5: 33,892,248 (GRCm39) |
Y689F |
probably damaging |
Het |
Fhip2a |
G |
A |
19: 57,369,710 (GRCm39) |
V418I |
probably benign |
Het |
Gar1 |
A |
T |
3: 129,624,269 (GRCm39) |
D74E |
probably damaging |
Het |
Helq |
T |
C |
5: 100,934,927 (GRCm39) |
K488E |
possibly damaging |
Het |
Hmg20a |
A |
G |
9: 56,381,823 (GRCm39) |
H33R |
possibly damaging |
Het |
Igsf10 |
T |
C |
3: 59,233,624 (GRCm39) |
D1703G |
probably damaging |
Het |
Jph3 |
A |
T |
8: 122,480,377 (GRCm39) |
I352F |
probably benign |
Het |
Krtap5-2 |
C |
A |
7: 141,729,029 (GRCm39) |
S217I |
unknown |
Het |
Lamp3 |
T |
C |
16: 19,518,455 (GRCm39) |
S261G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,365,654 (GRCm39) |
F3036L |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,058,722 (GRCm39) |
R972H |
possibly damaging |
Het |
Mccc1 |
C |
T |
3: 36,030,903 (GRCm39) |
D388N |
probably benign |
Het |
Mcoln1 |
T |
A |
8: 3,557,436 (GRCm39) |
Y147* |
probably null |
Het |
Mei1 |
T |
C |
15: 81,997,129 (GRCm39) |
S622P |
|
Het |
Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
Nav3 |
A |
G |
10: 109,605,034 (GRCm39) |
L1013P |
probably damaging |
Het |
Ndrg2 |
T |
C |
14: 52,146,071 (GRCm39) |
N170S |
probably damaging |
Het |
Ndufa12 |
G |
A |
10: 94,035,832 (GRCm39) |
G40D |
probably damaging |
Het |
Ogdhl |
T |
A |
14: 32,059,523 (GRCm39) |
V390E |
probably damaging |
Het |
Or10ak12 |
A |
C |
4: 118,666,999 (GRCm39) |
S21A |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,479,686 (GRCm39) |
R293G |
probably damaging |
Het |
Or4d10 |
A |
T |
19: 12,051,567 (GRCm39) |
I143K |
possibly damaging |
Het |
Or4f6 |
T |
A |
2: 111,839,124 (GRCm39) |
M136L |
probably benign |
Het |
Or8g37 |
A |
T |
9: 39,731,801 (GRCm39) |
I289F |
possibly damaging |
Het |
Osgin1 |
A |
G |
8: 120,172,247 (GRCm39) |
D347G |
possibly damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,687 (GRCm39) |
N231K |
probably damaging |
Het |
Pak6 |
C |
T |
2: 118,520,243 (GRCm39) |
T78M |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,649,841 (GRCm39) |
Y1006C |
probably damaging |
Het |
Psg18 |
A |
G |
7: 18,084,880 (GRCm39) |
I193T |
probably benign |
Het |
Psmd2 |
C |
A |
16: 20,479,173 (GRCm39) |
H677Q |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,229,766 (GRCm39) |
C937* |
probably null |
Het |
Scaf11 |
C |
T |
15: 96,316,195 (GRCm39) |
R1123H |
probably damaging |
Het |
Setx |
A |
T |
2: 29,051,555 (GRCm39) |
S2036C |
probably damaging |
Het |
Skint6 |
A |
G |
4: 113,093,546 (GRCm39) |
F199S |
probably damaging |
Het |
Slc3a2 |
A |
T |
19: 8,686,594 (GRCm39) |
S367R |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,871,304 (GRCm39) |
D222G |
probably damaging |
Het |
Styxl1 |
T |
C |
5: 135,799,190 (GRCm39) |
E8G |
probably null |
Het |
Sycp2l |
T |
A |
13: 41,295,256 (GRCm39) |
F308I |
probably damaging |
Het |
Syk |
A |
C |
13: 52,778,808 (GRCm39) |
K298T |
probably benign |
Het |
Tcp11 |
T |
A |
17: 28,286,028 (GRCm39) |
Q529L |
possibly damaging |
Het |
Tgfbi |
A |
G |
13: 56,762,100 (GRCm39) |
Y61C |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
Top2a |
A |
C |
11: 98,914,883 (GRCm39) |
S4A |
probably benign |
Het |
Ttc4 |
G |
T |
4: 106,528,919 (GRCm39) |
H166N |
probably benign |
Het |
Ube2o |
C |
A |
11: 116,435,639 (GRCm39) |
R383L |
possibly damaging |
Het |
Umod |
A |
G |
7: 119,076,517 (GRCm39) |
V83A |
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 |
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 |
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'- AACACAGCTGTCCCTGCATC -3'
(R):5'- CCGTGAAAGATGACGAGTGTC -3'
Sequencing Primer
(F):5'- TGCATCTGCTCAGGACTGCTG -3'
(R):5'- GCCCTGCTGTAAACAAGCG -3'
|
Posted On |
2022-10-06 |