Incidental Mutation 'R2384:Ripk1'
| ID |
247659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripk1
|
| Ensembl Gene |
ENSMUSG00000021408 |
| Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 1 |
| Synonyms |
Rinp, Rip1 |
| MMRRC Submission |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
34186346-34221130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34214026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 456
(D456G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021844]
[ENSMUST00000167374]
|
| AlphaFold |
Q60855 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021844
AA Change: D516G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: D516G
| 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: ENSMUST00000163843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167374
AA Change: D516G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: D516G
| 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 |
noncoding transcript
Transcript: ENSMUST00000169557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171137
AA Change: D456G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: D456G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
|
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 |
|
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'- GAGAATAAAGTAGCACTTGGGATGC -3'
(R):5'- ACAAGTCATAAGATACTACACCCTTA -3'
Sequencing Primer
(F):5'- AGACATCTTTAGGCAGTCTGTC -3'
(R):5'- ATGCTAGGCAGGCATTCTAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation