Incidental Mutation 'R6137:Kng1'
| ID |
488428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng1
|
| Ensembl Gene |
ENSMUSG00000022875 |
| Gene Name |
kininogen 1 |
| Synonyms |
L-kininogen, H-kininigen |
| MMRRC Submission |
044284-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6137 (G1)
|
| Quality Score |
147.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22893395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 256
(V256A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040485
(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: V256A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: V256A
| 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 |
possibly damaging
Transcript: ENSMUST00000039492
AA Change: V256A
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: V256A
| 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: V256A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: V256A
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
G |
T |
7: 130,959,342 (GRCm39) |
H165Q |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,327,164 (GRCm39) |
F721Y |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,137 (GRCm39) |
D1517V |
probably damaging |
Het |
| Amigo3 |
T |
A |
9: 107,930,927 (GRCm39) |
S117T |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,019,275 (GRCm39) |
N34K |
probably damaging |
Het |
| Cacnb1 |
A |
C |
11: 97,896,608 (GRCm39) |
V351G |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,532,660 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
C |
T |
9: 108,918,483 (GRCm39) |
T24I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,270,291 (GRCm39) |
Y618F |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,978,950 (GRCm39) |
W1271R |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,296,176 (GRCm39) |
T386A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,414,313 (GRCm39) |
D834V |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,103 (GRCm39) |
V933E |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 117,916,480 (GRCm39) |
F4203S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,177,156 (GRCm39) |
L2000P |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,316,097 (GRCm39) |
H444Q |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,105,290 (GRCm39) |
T292S |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,431,055 (GRCm39) |
S237P |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,676 (GRCm39) |
I1323T |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,313 (GRCm39) |
F652L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,456 (GRCm39) |
M142L |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,886 (GRCm39) |
Q503R |
possibly damaging |
Het |
| Ighv5-17 |
A |
G |
12: 113,822,915 (GRCm39) |
Y69H |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,452,543 (GRCm39) |
N242S |
probably benign |
Het |
| Immp1l |
G |
C |
2: 105,794,553 (GRCm39) |
G117A |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,822,413 (GRCm39) |
V10A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,322,883 (GRCm39) |
K679E |
possibly damaging |
Het |
| Lamc2 |
T |
G |
1: 153,041,899 (GRCm39) |
R78S |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,587,232 (GRCm39) |
F621S |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,919 (GRCm39) |
Y329H |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,363,455 (GRCm39) |
D225G |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,133,027 (GRCm39) |
F441L |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,864 (GRCm39) |
M699L |
possibly damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,022,196 (GRCm39) |
M144K |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,894 (GRCm39) |
M75L |
probably benign |
Het |
| Or5al6 |
A |
G |
2: 85,976,313 (GRCm39) |
V255A |
probably benign |
Het |
| Or6z6 |
T |
C |
7: 6,491,844 (GRCm39) |
T3A |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,699,113 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prps1l3 |
A |
G |
12: 57,285,674 (GRCm39) |
I155V |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 149,976,744 (GRCm39) |
N24K |
probably benign |
Het |
| Ralgds |
A |
T |
2: 28,437,600 (GRCm39) |
M514L |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,398,070 (GRCm39) |
V254D |
probably damaging |
Het |
| Selenot |
A |
T |
3: 58,492,705 (GRCm39) |
Q64L |
probably damaging |
Het |
| Sgsm2 |
G |
A |
11: 74,741,677 (GRCm39) |
R1037W |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,592,754 (GRCm39) |
V10A |
probably benign |
Het |
| Spem2 |
G |
T |
11: 69,707,522 (GRCm39) |
S481* |
probably null |
Het |
| Styk1 |
C |
T |
6: 131,287,979 (GRCm39) |
G128D |
probably damaging |
Het |
| Tex54 |
A |
T |
19: 8,718,148 (GRCm39) |
D6V |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,667,154 (GRCm39) |
L148Q |
probably damaging |
Het |
| Tmem138 |
A |
C |
19: 10,552,199 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,555,267 (GRCm39) |
V772A |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,626,821 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Tuba4a |
C |
A |
1: 75,192,699 (GRCm39) |
C305F |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,262 (GRCm39) |
F159V |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,882 (GRCm39) |
I129T |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,309,298 (GRCm39) |
M828K |
unknown |
Het |
| Zfp236 |
A |
T |
18: 82,689,919 (GRCm39) |
S187T |
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 |
|
|
R1396:Kng1
|
UTSW |
16 |
22,897,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TAGCATATGGGTGAACATGGGC -3'
(R):5'- ATGTACAGACCTGTGATGTTGC -3'
Sequencing Primer
(F):5'- TGGGCAAACACGCTTCC -3'
(R):5'- ATGACCAAGCACCTCCTT -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation