Incidental Mutation 'R1396:Kng1'
ID |
162676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kng1
|
Ensembl Gene |
ENSMUSG00000022875 |
Gene Name |
kininogen 1 |
Synonyms |
L-kininogen, H-kininigen |
MMRRC Submission |
039458-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1396 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22897730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 377
(M377V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023589]
[ENSMUST00000039492]
[ENSMUST00000089902]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023589
AA Change: M377V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023589 Gene: ENSMUSG00000022875 AA Change: M377V
Domain | Start | End | E-Value | Type |
CY
|
18 |
126 |
3.61e-17 |
SMART |
CY
|
140 |
248 |
6.46e-28 |
SMART |
CY
|
262 |
370 |
2.96e-36 |
SMART |
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
low complexity region
|
494 |
524 |
N/A |
INTRINSIC |
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000039492
AA Change: M377V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000040485 Gene: ENSMUSG00000022875 AA Change: M377V
Domain | Start | End | E-Value | Type |
CY
|
18 |
126 |
3.61e-17 |
SMART |
CY
|
140 |
248 |
6.46e-28 |
SMART |
CY
|
262 |
370 |
2.96e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089902
AA Change: M377V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000087346 Gene: ENSMUSG00000022875 AA Change: M377V
Domain | Start | End | E-Value | Type |
CY
|
18 |
126 |
3.61e-17 |
SMART |
CY
|
140 |
248 |
6.46e-28 |
SMART |
CY
|
262 |
370 |
2.96e-36 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136778
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
G |
A |
13: 61,001,057 (GRCm39) |
P160S |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,311,558 (GRCm39) |
D1272Y |
probably benign |
Het |
Akr1c20 |
A |
T |
13: 4,557,726 (GRCm39) |
V267D |
probably damaging |
Het |
C1s1 |
A |
G |
6: 124,508,010 (GRCm39) |
S660P |
probably damaging |
Het |
Ccdc202 |
A |
G |
14: 96,119,987 (GRCm39) |
N248S |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,122,629 (GRCm39) |
T144A |
possibly damaging |
Het |
Cdk20 |
T |
C |
13: 64,585,217 (GRCm39) |
I167T |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,023 (GRCm39) |
L1212S |
probably damaging |
Het |
Clock |
G |
C |
5: 76,414,649 (GRCm39) |
D15E |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,343,446 (GRCm39) |
V667A |
probably benign |
Het |
Cr2 |
A |
T |
1: 194,851,561 (GRCm39) |
|
probably null |
Het |
Cyp2e1 |
A |
G |
7: 140,352,992 (GRCm39) |
D343G |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Etf1 |
G |
A |
18: 35,041,220 (GRCm39) |
T298I |
possibly damaging |
Het |
Gm5431 |
T |
C |
11: 48,786,261 (GRCm39) |
|
probably benign |
Het |
Gss |
G |
A |
2: 155,409,641 (GRCm39) |
T265I |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,420,927 (GRCm39) |
S406L |
possibly damaging |
Het |
Hgsnat |
C |
A |
8: 26,447,363 (GRCm39) |
M310I |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,682,873 (GRCm39) |
R598H |
probably damaging |
Het |
Ints2 |
G |
T |
11: 86,140,074 (GRCm39) |
Q253K |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,694,440 (GRCm39) |
|
probably null |
Het |
Lemd2 |
G |
C |
17: 27,409,706 (GRCm39) |
R482G |
probably damaging |
Het |
Lrpprc |
C |
T |
17: 85,033,731 (GRCm39) |
D1049N |
possibly damaging |
Het |
Lrrc49 |
A |
T |
9: 60,587,810 (GRCm39) |
H117Q |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,279,213 (GRCm39) |
F191Y |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,033,949 (GRCm39) |
T252A |
possibly damaging |
Het |
Mgat4e |
T |
C |
1: 134,469,271 (GRCm39) |
T258A |
probably benign |
Het |
Mpeg1 |
A |
G |
19: 12,440,168 (GRCm39) |
N542S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,198,261 (GRCm39) |
V184I |
probably benign |
Het |
Nova1 |
A |
C |
12: 46,863,676 (GRCm39) |
F91L |
unknown |
Het |
Polk |
T |
C |
13: 96,620,716 (GRCm39) |
I516V |
probably benign |
Het |
Ppig |
C |
T |
2: 69,579,362 (GRCm39) |
P357S |
unknown |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 156,992,236 (GRCm39) |
H552Q |
probably damaging |
Het |
Rnf41 |
G |
A |
10: 128,271,440 (GRCm39) |
E117K |
probably benign |
Het |
Sbk3 |
A |
G |
7: 4,970,452 (GRCm39) |
Y306H |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,974,435 (GRCm39) |
S126P |
probably benign |
Het |
Sfr1 |
A |
G |
19: 47,722,129 (GRCm39) |
K182E |
probably benign |
Het |
Slc25a4 |
C |
A |
8: 46,662,325 (GRCm39) |
R111L |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
Stard4 |
A |
T |
18: 33,339,263 (GRCm39) |
N80K |
probably damaging |
Het |
Tbk1 |
G |
A |
10: 121,407,821 (GRCm39) |
T104M |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tmem102 |
A |
T |
11: 69,695,196 (GRCm39) |
W259R |
probably damaging |
Het |
Tnk1 |
A |
T |
11: 69,743,962 (GRCm39) |
C466S |
probably benign |
Het |
Tspoap1 |
A |
C |
11: 87,656,946 (GRCm39) |
Q307P |
probably damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,159,389 (GRCm39) |
N528D |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,431,809 (GRCm39) |
|
probably null |
Het |
Vmn1r203 |
C |
T |
13: 22,708,678 (GRCm39) |
T153M |
probably benign |
Het |
Vmn1r89 |
T |
A |
7: 12,953,938 (GRCm39) |
S157T |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,013,230 (GRCm39) |
Y117F |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,605,115 (GRCm39) |
M143L |
probably benign |
Het |
Vmn2r62 |
A |
T |
7: 42,414,261 (GRCm39) |
D727E |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,862,304 (GRCm39) |
I2974V |
probably benign |
Het |
Wrn |
C |
T |
8: 33,758,847 (GRCm39) |
G769D |
probably damaging |
Het |
Zhx3 |
T |
A |
2: 160,622,940 (GRCm39) |
H409L |
possibly damaging |
Het |
|
Other mutations in Kng1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01460:Kng1
|
APN |
16 |
22,897,944 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01754:Kng1
|
APN |
16 |
22,898,364 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02049:Kng1
|
APN |
16 |
22,892,187 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02138:Kng1
|
APN |
16 |
22,886,558 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02216:Kng1
|
APN |
16 |
22,877,283 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02230:Kng1
|
APN |
16 |
22,879,244 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02630:Kng1
|
APN |
16 |
22,898,595 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03024:Kng1
|
APN |
16 |
22,893,442 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0518:Kng1
|
UTSW |
16 |
22,879,232 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0521:Kng1
|
UTSW |
16 |
22,879,232 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1352:Kng1
|
UTSW |
16 |
22,886,444 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1514:Kng1
|
UTSW |
16 |
22,898,510 (GRCm39) |
missense |
probably damaging |
0.97 |
R1753:Kng1
|
UTSW |
16 |
22,897,869 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2048:Kng1
|
UTSW |
16 |
22,877,354 (GRCm39) |
missense |
probably damaging |
0.98 |
R2290:Kng1
|
UTSW |
16 |
22,897,875 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2357:Kng1
|
UTSW |
16 |
22,897,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3014:Kng1
|
UTSW |
16 |
22,898,120 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3607:Kng1
|
UTSW |
16 |
22,886,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R4322:Kng1
|
UTSW |
16 |
22,898,270 (GRCm39) |
missense |
probably benign |
|
R4334:Kng1
|
UTSW |
16 |
22,898,370 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4388:Kng1
|
UTSW |
16 |
22,898,068 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4558:Kng1
|
UTSW |
16 |
22,896,168 (GRCm39) |
splice site |
probably null |
|
R4887:Kng1
|
UTSW |
16 |
22,886,448 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5115:Kng1
|
UTSW |
16 |
22,888,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5288:Kng1
|
UTSW |
16 |
22,897,842 (GRCm39) |
missense |
probably damaging |
0.96 |
R5461:Kng1
|
UTSW |
16 |
22,897,887 (GRCm39) |
missense |
probably benign |
0.19 |
R5894:Kng1
|
UTSW |
16 |
22,892,113 (GRCm39) |
missense |
probably benign |
0.08 |
R6137:Kng1
|
UTSW |
16 |
22,893,395 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6260:Kng1
|
UTSW |
16 |
22,877,371 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6291:Kng1
|
UTSW |
16 |
22,898,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6620:Kng1
|
UTSW |
16 |
22,900,232 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6947:Kng1
|
UTSW |
16 |
22,896,124 (GRCm39) |
missense |
probably benign |
0.21 |
R7142:Kng1
|
UTSW |
16 |
22,898,170 (GRCm39) |
missense |
probably benign |
0.25 |
R7166:Kng1
|
UTSW |
16 |
22,898,428 (GRCm39) |
missense |
probably benign |
0.00 |
R7168:Kng1
|
UTSW |
16 |
22,898,391 (GRCm39) |
missense |
probably benign |
0.26 |
R7347:Kng1
|
UTSW |
16 |
22,886,537 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9005:Kng1
|
UTSW |
16 |
22,898,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R9388:Kng1
|
UTSW |
16 |
22,898,388 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9563:Kng1
|
UTSW |
16 |
22,879,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R9689:Kng1
|
UTSW |
16 |
22,879,224 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Kng1
|
UTSW |
16 |
22,898,366 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Kng1
|
UTSW |
16 |
22,892,139 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACAGCCTGACAAAGTTTAGC -3'
(R):5'- TTTCATGCAACCAGCCATGCCC -3'
Sequencing Primer
(F):5'- gtgctacagtacctgccc -3'
(R):5'- CATGTGTGGGTCCTTGTTCAG -3'
|
Posted On |
2014-03-17 |