Incidental Mutation 'R8165:Kng2'
ID |
633744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng2
|
Ensembl Gene |
ENSMUSG00000060459 |
Gene Name |
kininogen 2 |
Synonyms |
Kininogen-II |
MMRRC Submission |
067591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8165 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22806246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 445
(S445G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
|
AlphaFold |
Q6S9I3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000039338
AA Change: S445G
|
SMART Domains |
Protein: ENSMUSP00000046867 Gene: ENSMUSG00000060459 AA Change: S445G
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
|
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 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 |
|
Meta Mutation Damage Score |
0.0852 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,289 (GRCm39) |
|
probably null |
Het |
Amph |
A |
G |
13: 19,279,007 (GRCm39) |
K161E |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,348,088 (GRCm39) |
H602L |
probably benign |
Het |
Areg |
A |
G |
5: 91,291,492 (GRCm39) |
N145S |
probably damaging |
Het |
Arhgap29 |
C |
T |
3: 121,782,222 (GRCm39) |
T142I |
probably damaging |
Het |
Bcar3 |
C |
T |
3: 122,304,805 (GRCm39) |
|
probably benign |
Het |
Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
Btnl2 |
T |
A |
17: 34,587,682 (GRCm39) |
S509T |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,402,653 (GRCm39) |
|
probably null |
Het |
Casz1 |
C |
T |
4: 149,028,888 (GRCm39) |
P1111L |
probably damaging |
Het |
Ccdc91 |
C |
T |
6: 147,533,086 (GRCm39) |
T411I |
unknown |
Het |
Chd9 |
A |
C |
8: 91,767,769 (GRCm39) |
E2422A |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,130,133 (GRCm39) |
I34V |
probably benign |
Het |
Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
Cops8 |
A |
G |
1: 90,539,729 (GRCm39) |
|
probably null |
Het |
Cpa2 |
A |
G |
6: 30,564,345 (GRCm39) |
K392R |
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
Dnase1l3 |
T |
C |
14: 7,994,299 (GRCm38) |
|
probably benign |
Het |
Gdpd5 |
A |
T |
7: 99,105,689 (GRCm39) |
T502S |
probably benign |
Het |
Gp2 |
A |
T |
7: 119,049,375 (GRCm39) |
D387E |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,242,364 (GRCm39) |
L160P |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,522,409 (GRCm39) |
T3497M |
probably benign |
Het |
Idh3b |
T |
A |
2: 130,122,420 (GRCm39) |
T322S |
possibly damaging |
Het |
Kit |
A |
T |
5: 75,781,540 (GRCm39) |
N323I |
possibly damaging |
Het |
Lin54 |
A |
G |
5: 100,602,358 (GRCm39) |
V393A |
probably benign |
Het |
Lyst |
T |
A |
13: 13,872,945 (GRCm39) |
W2715R |
probably damaging |
Het |
Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
Med7 |
T |
A |
11: 46,332,073 (GRCm39) |
C223S |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,053,298 (GRCm39) |
L1823Q |
probably damaging |
Het |
Mga |
C |
A |
2: 119,777,719 (GRCm39) |
Q1755K |
probably benign |
Het |
Mgat4b |
A |
T |
11: 50,101,801 (GRCm39) |
N22I |
probably benign |
Het |
Ndufb6 |
C |
T |
4: 40,270,665 (GRCm39) |
|
probably null |
Het |
Neil3 |
A |
G |
8: 54,042,129 (GRCm39) |
L490P |
probably benign |
Het |
Nek9 |
C |
T |
12: 85,350,417 (GRCm39) |
V886I |
probably benign |
Het |
Nol4l |
A |
T |
2: 153,262,473 (GRCm39) |
Y366* |
probably null |
Het |
Nt5dc2 |
A |
G |
14: 30,860,886 (GRCm39) |
T354A |
probably damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,715 (GRCm39) |
Y102N |
probably damaging |
Het |
Pde2a |
G |
A |
7: 101,149,655 (GRCm39) |
|
probably null |
Het |
Phf1 |
T |
C |
17: 27,156,044 (GRCm39) |
F444L |
possibly damaging |
Het |
Plin4 |
G |
A |
17: 56,414,019 (GRCm39) |
T202I |
possibly damaging |
Het |
Plk4 |
G |
C |
3: 40,768,009 (GRCm39) |
V851L |
probably damaging |
Het |
Pp2d1 |
A |
G |
17: 53,822,257 (GRCm39) |
S270P |
probably damaging |
Het |
Ripor1 |
C |
A |
8: 106,347,520 (GRCm39) |
L1028M |
unknown |
Het |
Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
Sel1l2 |
T |
A |
2: 140,104,626 (GRCm39) |
L306F |
probably damaging |
Het |
Spic |
A |
T |
10: 88,513,428 (GRCm39) |
S86T |
probably damaging |
Het |
Spmip10 |
T |
A |
18: 56,722,547 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,836,668 (GRCm39) |
N278S |
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,495 (GRCm39) |
F126I |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,824,345 (GRCm39) |
E869G |
possibly damaging |
Het |
Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
Terf2 |
T |
C |
8: 107,809,656 (GRCm39) |
K221E |
possibly damaging |
Het |
Thsd7a |
T |
A |
6: 12,468,962 (GRCm39) |
T539S |
|
Het |
Tll2 |
A |
G |
19: 41,077,313 (GRCm39) |
F818L |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,200,959 (GRCm39) |
T427A |
possibly damaging |
Het |
Ush2a |
C |
A |
1: 188,183,952 (GRCm39) |
Q1419K |
possibly damaging |
Het |
Vill |
T |
A |
9: 118,895,821 (GRCm39) |
F511Y |
probably damaging |
Het |
Virma |
T |
A |
4: 11,542,128 (GRCm39) |
D1521E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,766,072 (GRCm39) |
D63G |
probably benign |
Het |
Vrk2 |
A |
G |
11: 26,485,575 (GRCm39) |
F138L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
Zgrf1 |
T |
A |
3: 127,357,032 (GRCm39) |
F753I |
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 |
|
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 |
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'- TCTGCTCCTTACCAGAGCAG -3'
(R):5'- AGCCAGATAGCCTTTCATTTAAGC -3'
Sequencing Primer
(F):5'- CTCCTTACCAGAGCAGTGGATTTTG -3'
(R):5'- GCTGATATCTGATTTTCCAGAAGC -3'
|
Posted On |
2020-07-13 |