Incidental Mutation 'R6905:Ripk1'
ID |
538749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ripk1
|
Ensembl Gene |
ENSMUSG00000021408 |
Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 1 |
Synonyms |
Rinp, Rip1 |
MMRRC Submission |
044997-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6905 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
34186346-34221130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34211973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 428
(I428V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021844]
[ENSMUST00000167374]
|
AlphaFold |
Q60855 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021844
AA Change: I428V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021844 Gene: ENSMUSG00000021408 AA Change: I428V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
17 |
286 |
1.2e-52 |
PFAM |
Pfam:Pkinase
|
18 |
286 |
6.2e-51 |
PFAM |
Pfam:Kinase-like
|
84 |
247 |
7.4e-8 |
PFAM |
Pfam:RHIM
|
480 |
538 |
5.9e-10 |
PFAM |
DEATH
|
558 |
654 |
1.2e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167374
AA Change: I428V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129831 Gene: ENSMUSG00000021408 AA Change: I428V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
17 |
286 |
5.2e-54 |
PFAM |
Pfam:Pkinase
|
18 |
286 |
1.1e-53 |
PFAM |
Pfam:RHIM
|
493 |
539 |
5.2e-16 |
PFAM |
DEATH
|
558 |
654 |
1.2e-25 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128511 Gene: ENSMUSG00000021408 AA Change: I368V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
4 |
116 |
2.6e-14 |
PFAM |
Pfam:Pkinase
|
5 |
109 |
1.7e-14 |
PFAM |
Pfam:Pkinase
|
92 |
227 |
2.9e-14 |
PFAM |
Pfam:Pkinase_Tyr
|
94 |
227 |
2.9e-21 |
PFAM |
Pfam:RHIM
|
421 |
479 |
2.3e-10 |
PFAM |
DEATH
|
499 |
595 |
1.2e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene die within 1 and 3 days of birth displaying extensive apoptosis in both lymphoid and adipose tissue. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,831,653 (GRCm39) |
F50S |
probably damaging |
Het |
Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
L3mbtl4 |
A |
T |
17: 69,084,883 (GRCm39) |
Y598F |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
Map2k2 |
A |
G |
10: 80,944,701 (GRCm39) |
D71G |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
Het |
Vwde |
T |
C |
6: 13,205,926 (GRCm39) |
E207G |
probably damaging |
Het |
|
Other mutations in Ripk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01443:Ripk1
|
APN |
13 |
34,199,251 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01873:Ripk1
|
APN |
13 |
34,193,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:Ripk1
|
APN |
13 |
34,199,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02478:Ripk1
|
APN |
13 |
34,194,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Ripk1
|
UTSW |
13 |
34,193,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Ripk1
|
UTSW |
13 |
34,193,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Ripk1
|
UTSW |
13 |
34,211,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1105:Ripk1
|
UTSW |
13 |
34,212,150 (GRCm39) |
missense |
probably benign |
|
R1528:Ripk1
|
UTSW |
13 |
34,212,130 (GRCm39) |
missense |
probably benign |
0.01 |
R1834:Ripk1
|
UTSW |
13 |
34,199,196 (GRCm39) |
missense |
probably benign |
0.00 |
R2294:Ripk1
|
UTSW |
13 |
34,200,991 (GRCm39) |
missense |
probably benign |
|
R2384:Ripk1
|
UTSW |
13 |
34,214,026 (GRCm39) |
missense |
probably benign |
0.03 |
R4510:Ripk1
|
UTSW |
13 |
34,210,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Ripk1
|
UTSW |
13 |
34,210,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Ripk1
|
UTSW |
13 |
34,211,925 (GRCm39) |
nonsense |
probably null |
|
R5078:Ripk1
|
UTSW |
13 |
34,201,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Ripk1
|
UTSW |
13 |
34,197,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5974:Ripk1
|
UTSW |
13 |
34,214,084 (GRCm39) |
nonsense |
probably null |
|
R6189:Ripk1
|
UTSW |
13 |
34,216,484 (GRCm39) |
missense |
probably benign |
0.16 |
R6676:Ripk1
|
UTSW |
13 |
34,194,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R6997:Ripk1
|
UTSW |
13 |
34,201,100 (GRCm39) |
missense |
probably benign |
0.00 |
R7009:Ripk1
|
UTSW |
13 |
34,214,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Ripk1
|
UTSW |
13 |
34,193,666 (GRCm39) |
missense |
probably benign |
0.02 |
R8497:Ripk1
|
UTSW |
13 |
34,211,934 (GRCm39) |
missense |
probably damaging |
0.98 |
R8680:Ripk1
|
UTSW |
13 |
34,214,032 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9021:Ripk1
|
UTSW |
13 |
34,205,373 (GRCm39) |
missense |
probably benign |
0.38 |
R9132:Ripk1
|
UTSW |
13 |
34,212,184 (GRCm39) |
missense |
probably benign |
0.01 |
R9620:Ripk1
|
UTSW |
13 |
34,210,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1177:Ripk1
|
UTSW |
13 |
34,212,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCGCAGTGTGCAGGCTAAG -3'
(R):5'- GCCCAGAGAAGTATGGCATG -3'
Sequencing Primer
(F):5'- TGTGCAGGCTAAGCTGCAAG -3'
(R):5'- CTCTGGCACTGGAGTTTTATAAGTAC -3'
|
Posted On |
2018-11-06 |