Incidental Mutation 'R6676:Ripk1'
| ID |
527294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripk1
|
| Ensembl Gene |
ENSMUSG00000021408 |
| Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 1 |
| Synonyms |
Rinp, Rip1 |
| MMRRC Submission |
044795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
34186346-34221130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34194587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 75
(V75A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021844]
[ENSMUST00000167374]
|
| AlphaFold |
Q60855 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021844
AA Change: V75A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: V75A
| 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 |
noncoding transcript
Transcript: ENSMUST00000163418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165849
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167374
AA Change: V75A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: V75A
| 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 |
unknown
Transcript: ENSMUST00000171137
AA Change: V61A
|
| SMART Domains |
Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: V61A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222176
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
A |
T |
8: 27,601,268 (GRCm39) |
I303F |
possibly damaging |
Het |
| Cldn9 |
A |
G |
17: 23,902,023 (GRCm39) |
S201P |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,343,584 (GRCm39) |
P621Q |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,837,445 (GRCm39) |
N403S |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,524,045 (GRCm39) |
Y329C |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,231 (GRCm39) |
L461P |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,700 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
A |
G |
15: 57,856,439 (GRCm39) |
D206G |
possibly damaging |
Het |
| Fancd2 |
C |
T |
6: 113,514,626 (GRCm39) |
Q144* |
probably null |
Het |
| Fhl2 |
T |
C |
1: 43,170,970 (GRCm39) |
M115V |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,304,387 (GRCm39) |
D592E |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,280,997 (GRCm39) |
I684F |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,155,156 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mup12 |
C |
T |
4: 60,696,642 (GRCm39) |
|
probably null |
Het |
| Olr1 |
T |
A |
6: 129,477,040 (GRCm39) |
|
probably null |
Het |
| Or51a24 |
T |
C |
7: 103,733,661 (GRCm39) |
T209A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,860 (GRCm39) |
V364A |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,636,575 (GRCm39) |
S654P |
possibly damaging |
Het |
| Rab3gap2 |
T |
G |
1: 185,015,607 (GRCm39) |
V1275G |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,222,414 (GRCm39) |
F93L |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,145 (GRCm39) |
|
probably benign |
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 |
|
R6905:Ripk1
|
UTSW |
13 |
34,211,973 (GRCm39) |
missense |
probably benign |
|
|
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'- AGCCTCCCTGCCTTCTAGG -3'
(R):5'- AGCTACACTCTAAGCCGCC -3'
Sequencing Primer
(F):5'- GACCTCATTGTGACAAATGTCTGC -3'
(R):5'- CGCCAAAGCAGTTAGTACCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation