Incidental Mutation 'R9531:Kng2'
| ID |
719496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22830907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 134
(I134T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000231835]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039338
AA Change: I134T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: I134T
| 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: I134T
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: I134T
| 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
AA Change: I134T
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: I134T
| 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: ENSMUST00000160243
AA Change: I134T
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
AA Change: I134T
| 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 benign
Transcript: ENSMUST00000232459
AA Change: I70T
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
T |
A |
9: 119,260,392 (GRCm39) |
D354E |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,537,875 (GRCm39) |
S369R |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,180,802 (GRCm39) |
M977T |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,510,539 (GRCm39) |
E27V |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,320,801 (GRCm39) |
F1586L |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,436,562 (GRCm39) |
S473T |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,858,489 (GRCm39) |
M151T |
|
Het |
| Dhodh |
T |
C |
8: 110,321,623 (GRCm39) |
T300A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,294,818 (GRCm39) |
M1V |
probably null |
Het |
| Ezh1 |
G |
A |
11: 101,104,657 (GRCm39) |
T130M |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,887,692 (GRCm39) |
D109G |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,075 (GRCm39) |
*1204R |
probably null |
Het |
| Itpkb |
T |
G |
1: 180,161,374 (GRCm39) |
V500G |
probably benign |
Het |
| Jakmip1 |
C |
A |
5: 37,332,407 (GRCm39) |
T1029N |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,667,063 (GRCm39) |
K231E |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,540,948 (GRCm39) |
V1014I |
|
Het |
| Lct |
T |
C |
1: 128,235,598 (GRCm39) |
S470G |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,321 (GRCm39) |
V825A |
probably damaging |
Het |
| Mfap3l |
C |
G |
8: 61,109,787 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,240,731 (GRCm39) |
M1474V |
possibly damaging |
Het |
| Mrpl15 |
T |
C |
1: 4,847,757 (GRCm39) |
R181G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,692,307 (GRCm39) |
V377A |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,936 (GRCm39) |
F344L |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,288,823 (GRCm39) |
S111P |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,235,236 (GRCm39) |
T787M |
possibly damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,841,926 (GRCm39) |
K777T |
|
Het |
| Pkd1 |
C |
T |
17: 24,792,114 (GRCm39) |
T1267I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,007,063 (GRCm39) |
D835G |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,099,154 (GRCm39) |
I634N |
probably damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,997 (GRCm39) |
I274N |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,028,424 (GRCm39) |
D334G |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,183,105 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttc24 |
A |
G |
3: 87,978,416 (GRCm39) |
S252P |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,135,217 (GRCm39) |
T850A |
probably benign |
Het |
| Zbbx |
A |
G |
3: 74,985,865 (GRCm39) |
S396P |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,088,837 (GRCm39) |
I478N |
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 |
|
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 |
|
R9048:Kng2
|
UTSW |
16 |
22,806,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GGTGACAAAATGCCAATCTAACAG -3'
(R):5'- TGCTTTTGACTGCACAGGG -3'
Sequencing Primer
(F):5'- TTAAGCACATCACATGCCTTG -3'
(R):5'- CACAGGGGGCCTAAATTCTCATTATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation