Incidental Mutation 'R9048:Kng2'
ID |
688204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng2
|
Ensembl Gene |
ENSMUSG00000060459 |
Gene Name |
kininogen 2 |
Synonyms |
Kininogen-II |
MMRRC Submission |
068874-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9048 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22806522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 559
(T559I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
|
AlphaFold |
Q6S9I3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039338
|
SMART Domains |
Protein: ENSMUSP00000046867 Gene: ENSMUSG00000060459
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: ENSMUST00000100046
AA Change: T559I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097623 Gene: ENSMUSG00000060459 AA Change: T559I
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 benign
Transcript: ENSMUST00000115349
|
SMART Domains |
Protein: ENSMUSP00000111006 Gene: ENSMUSG00000060459
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 benign
Transcript: ENSMUST00000231872
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
Ces1f |
T |
C |
8: 93,989,695 (GRCm39) |
D407G |
probably benign |
Het |
Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
Podn |
G |
C |
4: 107,878,596 (GRCm39) |
R424G |
probably damaging |
Het |
Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
Septin8 |
A |
G |
11: 53,427,530 (GRCm39) |
N250D |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
Sin3a |
A |
G |
9: 57,032,620 (GRCm39) |
D1188G |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACATTTCTGGGAAGTTGC -3'
(R):5'- TGGCAGTGACCATACACAC -3'
Sequencing Primer
(F):5'- CTGGGAAGTTGCTTCTGGAAAATCAG -3'
(R):5'- CATGGTCATGGTCATGGTCATAGTC -3'
|
Posted On |
2021-11-19 |