Incidental Mutation 'IGL02216:Kng1'
| ID |
284890 |
| 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 # |
IGL02216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22877283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 30
(D30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087346
(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: D30E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: D30E
| 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: D30E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: D30E
| 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: D30E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: D30E
| 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 benign
Transcript: ENSMUST00000125790
|
| SMART Domains |
Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
| 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
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
T |
C |
11: 70,507,005 (GRCm39) |
F48L |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,571 (GRCm39) |
N381S |
possibly damaging |
Het |
| Akp3 |
A |
T |
1: 87,055,372 (GRCm39) |
Q473L |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,438 (GRCm39) |
|
probably benign |
Het |
| Ap5s1 |
T |
A |
2: 131,054,887 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,616 (GRCm39) |
L1438Q |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,539 (GRCm39) |
P233L |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cc2d1a |
C |
A |
8: 84,865,942 (GRCm39) |
E393* |
probably null |
Het |
| Cd209a |
G |
T |
8: 3,795,576 (GRCm39) |
T165N |
probably damaging |
Het |
| Chid1 |
T |
C |
7: 141,076,506 (GRCm39) |
|
probably benign |
Het |
| Cln3 |
A |
T |
7: 126,174,514 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,059,944 (GRCm39) |
R203S |
probably damaging |
Het |
| Dele1 |
A |
T |
18: 38,385,913 (GRCm39) |
I102F |
probably damaging |
Het |
| Dnttip2 |
G |
T |
3: 122,069,910 (GRCm39) |
W375L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,629,436 (GRCm39) |
F4280S |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,370,332 (GRCm39) |
D844G |
possibly damaging |
Het |
| Fhl2 |
T |
A |
1: 43,170,879 (GRCm39) |
E145V |
probably null |
Het |
| Gne |
T |
C |
4: 44,044,761 (GRCm39) |
K458E |
probably benign |
Het |
| Grid2 |
G |
T |
6: 64,322,650 (GRCm39) |
R550L |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,360,658 (GRCm39) |
T731S |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,077,264 (GRCm39) |
V158A |
probably benign |
Het |
| Mcm8 |
G |
T |
2: 132,681,449 (GRCm39) |
V642F |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,739,092 (GRCm39) |
H3638Y |
probably benign |
Het |
| Neb |
T |
G |
2: 52,116,502 (GRCm39) |
T4158P |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,824,336 (GRCm39) |
I697M |
probably damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,300,724 (GRCm39) |
V614D |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,861 (GRCm39) |
S18L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,950,892 (GRCm39) |
S2555P |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,784,897 (GRCm39) |
R1962S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,929,918 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pramel12 |
T |
A |
4: 143,144,298 (GRCm39) |
|
probably null |
Het |
| Prl3a1 |
A |
G |
13: 27,454,127 (GRCm39) |
D35G |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,726 (GRCm39) |
V472D |
possibly damaging |
Het |
| Rbpj-ps3 |
G |
A |
6: 46,506,641 (GRCm39) |
|
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,340,804 (GRCm39) |
V472M |
probably damaging |
Het |
| Rps18 |
A |
G |
17: 34,171,015 (GRCm39) |
|
probably benign |
Het |
| Rptn |
T |
C |
3: 93,303,080 (GRCm39) |
S138P |
possibly damaging |
Het |
| Sbpl |
A |
C |
17: 24,172,690 (GRCm39) |
N76K |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,364 (GRCm39) |
M241L |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,145,433 (GRCm39) |
*198W |
probably null |
Het |
| Smc3 |
C |
T |
19: 53,610,275 (GRCm39) |
R221C |
probably damaging |
Het |
| Snai1 |
A |
G |
2: 167,380,768 (GRCm39) |
E87G |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,470 (GRCm39) |
A49S |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,268 (GRCm39) |
R33* |
probably null |
Het |
| Try4 |
A |
G |
6: 41,281,965 (GRCm39) |
I184V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,896 (GRCm39) |
K20355* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,622,069 (GRCm39) |
V15491A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,237 (GRCm39) |
T293A |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,915 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,661,817 (GRCm39) |
V666E |
probably damaging |
Het |
| Vsx1 |
T |
C |
2: 150,526,495 (GRCm39) |
N221S |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,499,905 (GRCm39) |
E45G |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation