Incidental Mutation 'R1352:Kng1'
| ID |
156717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng1
|
| Ensembl Gene |
ENSMUSG00000022875 |
| Gene Name |
kininogen 1 |
| Synonyms |
L-kininogen, H-kininigen |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
22876970-22900828 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 22886444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023589]
[ENSMUST00000023589]
[ENSMUST00000023589]
[ENSMUST00000039492]
[ENSMUST00000039492]
[ENSMUST00000039492]
[ENSMUST00000089902]
[ENSMUST00000089902]
[ENSMUST00000089902]
[ENSMUST00000125790]
[ENSMUST00000125790]
[ENSMUST00000125790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023589
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000023589
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000023589
|
| SMART Domains |
Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000039492
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000039492
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000039492
|
| SMART Domains |
Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000089902
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000089902
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000089902
|
| SMART Domains |
Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
| 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 null
Transcript: ENSMUST00000125790
|
| SMART Domains |
Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cystatin
|
1 |
62 |
6.5e-11 |
PFAM |
|
Pfam:Cystatin
|
89 |
134 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125790
|
| SMART Domains |
Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cystatin
|
1 |
62 |
6.5e-11 |
PFAM |
|
Pfam:Cystatin
|
89 |
134 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125790
|
| SMART Domains |
Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cystatin
|
1 |
62 |
6.5e-11 |
PFAM |
|
Pfam:Cystatin
|
89 |
134 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136778
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably 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 |
|
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 |
|
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'- CCATCTTTGCTTTTGACTGCACAGG -3'
(R):5'- ATGGAAACACGGGCACTCTAGGAC -3'
Sequencing Primer
(F):5'- TCTCAGGGGTTTAGGACCAT -3'
(R):5'- CACTCTAGGACGATGCCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation