Incidental Mutation 'R3551:Kng2'
| ID |
268363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
040668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 22830745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000231835]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000100046
|
| SMART Domains |
Protein: ENSMUSP00000097623
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 |
|
low complexity region
|
478 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000159889
|
| 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: ENSMUST00000231835
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232459
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
| Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
| Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
| C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
| Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
| Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
| Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
| Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
| Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,159,479 (GRCm39) |
L466P |
possibly damaging |
Het |
| Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,938,237 (GRCm39) |
T720A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
| Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
| Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAACCATGCACTGCGGAG -3'
(R):5'- TAAGGGCCCCATAGTGACAG -3'
Sequencing Primer
(F):5'- TGCATTGCACAACTCACCTGG -3'
(R):5'- CAGAGGAGTACCACTGTGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation