Incidental Mutation 'IGL01469:Kng2'
| ID |
88194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22818577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 305
(K305I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039338
AA Change: K305I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: K305I
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100046
AA Change: K305I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: K305I
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115349
AA Change: K305I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: K305I
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160243
|
| SMART Domains |
Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
Blast:CY
|
140 |
171 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231872
AA Change: K44I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232459
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
| Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,345,111 (GRCm39) |
D190G |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
| Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,157,353 (GRCm39) |
M274T |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,499,330 (GRCm39) |
T164A |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
| Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
| Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
| Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
| Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
A |
T |
1: 10,073,458 (GRCm39) |
|
probably null |
Het |
| Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
| Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,744,697 (GRCm39) |
I796L |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
probably damaging |
Het |
|
| Other mutations in Kng2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00851:Kng2
|
APN |
16 |
22,847,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01319:Kng2
|
APN |
16 |
22,847,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01681:Kng2
|
APN |
16 |
22,815,767 (GRCm39) |
splice site |
probably benign |
|
|
IGL01830:Kng2
|
APN |
16 |
22,806,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01903:Kng2
|
APN |
16 |
22,806,540 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02146:Kng2
|
APN |
16 |
22,806,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02305:Kng2
|
APN |
16 |
22,819,374 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02429:Kng2
|
APN |
16 |
22,830,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4548:Kng2
|
UTSW |
16 |
22,819,302 (GRCm39) |
nonsense |
probably null |
|
|
R0020:Kng2
|
UTSW |
16 |
22,816,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0047:Kng2
|
UTSW |
16 |
22,806,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0245:Kng2
|
UTSW |
16 |
22,830,931 (GRCm39) |
splice site |
probably benign |
|
|
R0610:Kng2
|
UTSW |
16 |
22,819,344 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0646:Kng2
|
UTSW |
16 |
22,806,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0666:Kng2
|
UTSW |
16 |
22,815,872 (GRCm39) |
splice site |
probably benign |
|
|
R1552:Kng2
|
UTSW |
16 |
22,806,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Kng2
|
UTSW |
16 |
22,806,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1833:Kng2
|
UTSW |
16 |
22,830,802 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1997:Kng2
|
UTSW |
16 |
22,843,626 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2025:Kng2
|
UTSW |
16 |
22,819,325 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2056:Kng2
|
UTSW |
16 |
22,806,703 (GRCm39) |
intron |
probably benign |
|
|
R2137:Kng2
|
UTSW |
16 |
22,816,076 (GRCm39) |
intron |
probably benign |
|
|
R2517:Kng2
|
UTSW |
16 |
22,807,065 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3438:Kng2
|
UTSW |
16 |
22,830,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3439:Kng2
|
UTSW |
16 |
22,830,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3551:Kng2
|
UTSW |
16 |
22,830,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4389:Kng2
|
UTSW |
16 |
22,843,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4538:Kng2
|
UTSW |
16 |
22,806,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4684:Kng2
|
UTSW |
16 |
22,806,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4978:Kng2
|
UTSW |
16 |
22,806,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5658:Kng2
|
UTSW |
16 |
22,815,770 (GRCm39) |
splice site |
probably null |
|
|
R6074:Kng2
|
UTSW |
16 |
22,819,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6216:Kng2
|
UTSW |
16 |
22,806,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Kng2
|
UTSW |
16 |
22,822,698 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6459:Kng2
|
UTSW |
16 |
22,830,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Kng2
|
UTSW |
16 |
22,830,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Kng2
|
UTSW |
16 |
22,806,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7532:Kng2
|
UTSW |
16 |
22,845,794 (GRCm39) |
splice site |
probably null |
|
|
R7667:Kng2
|
UTSW |
16 |
22,806,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Kng2
|
UTSW |
16 |
22,818,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8092:Kng2
|
UTSW |
16 |
22,806,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8165:Kng2
|
UTSW |
16 |
22,806,246 (GRCm39) |
missense |
unknown |
|
|
R8814:Kng2
|
UTSW |
16 |
22,822,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9019:Kng2
|
UTSW |
16 |
22,847,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9048:Kng2
|
UTSW |
16 |
22,806,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9531:Kng2
|
UTSW |
16 |
22,830,907 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9708:Kng2
|
UTSW |
16 |
22,815,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9764:Kng2
|
UTSW |
16 |
22,822,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation