Incidental Mutation 'R4538:Kng2'
ID |
333426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng2
|
Ensembl Gene |
ENSMUSG00000060459 |
Gene Name |
kininogen 2 |
Synonyms |
Kininogen-II |
MMRRC Submission |
041775-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4538 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 22806813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 462
(R462L)
|
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: R462L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097623 Gene: ENSMUSG00000060459 AA Change: R462L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110018I06Rik |
G |
A |
12: 107,455,096 (GRCm39) |
V61M |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,560,138 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
T |
1: 165,340,696 (GRCm39) |
M234L |
probably benign |
Het |
B4galt3 |
T |
C |
1: 171,100,280 (GRCm39) |
F150S |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Chd4 |
A |
T |
6: 125,097,649 (GRCm39) |
D1377V |
probably damaging |
Het |
Cope |
T |
A |
8: 70,759,157 (GRCm39) |
I16N |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
Cyp7b1 |
A |
T |
3: 18,151,745 (GRCm39) |
I156N |
possibly damaging |
Het |
Depdc5 |
T |
C |
5: 33,141,290 (GRCm39) |
Y1397H |
probably damaging |
Het |
Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,798,822 (GRCm39) |
D289E |
probably benign |
Het |
Egflam |
T |
C |
15: 7,281,918 (GRCm39) |
Y406C |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,022,756 (GRCm39) |
T949A |
possibly damaging |
Het |
Ifih1 |
A |
G |
2: 62,447,756 (GRCm39) |
V316A |
probably damaging |
Het |
Kif1a |
C |
T |
1: 93,004,769 (GRCm39) |
V142M |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,545,598 (GRCm39) |
N465K |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,722,334 (GRCm39) |
L2372Q |
probably damaging |
Het |
Men1 |
T |
C |
19: 6,386,784 (GRCm39) |
F159L |
possibly damaging |
Het |
Mul1 |
T |
C |
4: 138,165,706 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
A |
T |
16: 19,349,381 (GRCm39) |
C96* |
probably null |
Het |
Pramel6 |
T |
G |
2: 87,338,903 (GRCm39) |
H34Q |
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,544,352 (GRCm39) |
L702* |
probably null |
Het |
Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,309,851 (GRCm39) |
V513A |
possibly damaging |
Het |
Strada |
A |
C |
11: 106,058,651 (GRCm39) |
M245R |
probably damaging |
Het |
Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trbv17 |
A |
C |
6: 41,140,286 (GRCm39) |
N47T |
probably benign |
Het |
Washc3 |
T |
A |
10: 88,051,871 (GRCm39) |
S87T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGAGCTTGCCAAAGGTTCTG -3'
(R):5'- GCAGGAACAACTGTAAGTCCAC -3'
Sequencing Primer
(F):5'- GAGCTTGCCAAAGGTTCTGTTCTC -3'
(R):5'- TGTAAGTCCACCCTACATTGTCAGAG -3'
|
Posted On |
2015-08-18 |