Incidental Mutation 'IGL02049:Kng1'
| ID |
185040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kng1
|
| Ensembl Gene |
ENSMUSG00000022875 |
| Gene Name |
kininogen 1 |
| Synonyms |
L-kininogen, H-kininigen |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22892187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 250
(Y250C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087346
(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: Y250C
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: Y250C
| 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 |
possibly damaging
Transcript: ENSMUST00000039492
AA Change: Y250C
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: Y250C
| 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: Y250C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: Y250C
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
| 4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
| Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
| Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef6 |
T |
A |
X: 56,321,271 (GRCm39) |
Q320L |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
| Cfd |
A |
G |
10: 79,726,776 (GRCm39) |
Y6C |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
| Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
| Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,455,049 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,067 (GRCm39) |
T520A |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
| Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
| Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
| Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
| Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
| Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
| Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,047,309 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
| Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
| Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
| Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation