Incidental Mutation 'IGL02429:Kng2'
| ID |
293037 |
| 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 # |
IGL02429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22830829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 160
(K160I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000231835]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039338
AA Change: K160I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: K160I
| 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 |
possibly damaging
Transcript: ENSMUST00000100046
AA Change: K160I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: K160I
| 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: K160I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: K160I
| 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 |
noncoding transcript
Transcript: ENSMUST00000159889
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160243
AA Change: K160I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
AA Change: K160I
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
Blast:CY
|
140 |
171 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231835
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232459
AA Change: K96I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
A |
T |
1: 127,687,453 (GRCm39) |
D245V |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,935,289 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
A |
G |
X: 48,583,583 (GRCm39) |
D77G |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,589 (GRCm39) |
M187K |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,407,548 (GRCm39) |
V2145A |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,030,989 (GRCm39) |
N178S |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,767,732 (GRCm39) |
T110A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,641,770 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,533,896 (GRCm39) |
L493S |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,261,266 (GRCm39) |
T72M |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,521,730 (GRCm39) |
|
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,302,390 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,837,240 (GRCm39) |
M397T |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,742,468 (GRCm39) |
T306A |
probably benign |
Het |
| Gtf2a1l |
G |
T |
17: 88,976,141 (GRCm39) |
M1I |
probably null |
Het |
| Hdac4 |
A |
G |
1: 91,940,417 (GRCm39) |
L154P |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,231,720 (GRCm39) |
C422S |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,755,130 (GRCm39) |
A136S |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,855,193 (GRCm39) |
I402T |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,956,237 (GRCm39) |
H509R |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,039,334 (GRCm39) |
K782E |
probably damaging |
Het |
| Mvb12b |
G |
A |
2: 33,717,800 (GRCm39) |
R114W |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,149,808 (GRCm39) |
K1818* |
probably null |
Het |
| Myo1h |
C |
T |
5: 114,497,799 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,598 (GRCm39) |
S1402T |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,516 (GRCm39) |
N71S |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,940,133 (GRCm39) |
M344I |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,138 (GRCm39) |
F11I |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,612,247 (GRCm39) |
L1019P |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,718,453 (GRCm39) |
E494G |
probably benign |
Het |
| Pole |
T |
C |
5: 110,447,666 (GRCm39) |
I734T |
probably benign |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,769 (GRCm39) |
S203P |
probably benign |
Het |
| Pth2r |
G |
T |
1: 65,385,998 (GRCm39) |
M240I |
probably benign |
Het |
| Ptprr |
T |
A |
10: 116,109,672 (GRCm39) |
F394I |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,239,329 (GRCm39) |
S265P |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,815 (GRCm39) |
D353G |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,574,596 (GRCm39) |
Y8H |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,118,187 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
A |
T |
4: 13,865,294 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
A |
17: 31,519,483 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,025,714 (GRCm39) |
|
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,397,342 (GRCm39) |
V328A |
probably benign |
Het |
| Slf2 |
T |
C |
19: 44,930,167 (GRCm39) |
S415P |
probably benign |
Het |
| Spata17 |
C |
A |
1: 186,872,631 (GRCm39) |
R60L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,118,369 (GRCm39) |
D2237E |
probably benign |
Het |
| Swap70 |
T |
A |
7: 109,863,179 (GRCm39) |
N169K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,443 (GRCm39) |
D505G |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,839,115 (GRCm39) |
V70A |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,899 (GRCm39) |
V165E |
probably benign |
Het |
| Trpc5 |
T |
C |
X: 143,194,795 (GRCm39) |
E570G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,460,279 (GRCm39) |
N601S |
probably benign |
Het |
| Vmn2r30 |
C |
T |
7: 7,337,243 (GRCm39) |
C131Y |
possibly damaging |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,551 (GRCm39) |
I221V |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,150,596 (GRCm39) |
V481E |
possibly 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 |
|
IGL01469:Kng2
|
APN |
16 |
22,818,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation