Incidental Mutation 'IGL01873:Ripk1'
| ID |
178782 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ripk1
|
| Ensembl Gene |
ENSMUSG00000021408 |
| Gene Name |
receptor (TNFRSF)-interacting serine-threonine kinase 1 |
| Synonyms |
Rinp, Rip1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34186346-34221130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34193707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 23
(L23Q)
|
| 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: L23Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: L23Q
| 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: L23Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: L23Q
| 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: L9Q
|
| SMART Domains |
Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: L9Q
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chd9 |
A |
G |
8: 91,660,395 (GRCm39) |
T452A |
probably benign |
Het |
| Coq8a |
T |
A |
1: 180,006,542 (GRCm39) |
Q115L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,378 (GRCm39) |
E2326G |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,693 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
T |
6: 148,946,027 (GRCm39) |
M528K |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,355 (GRCm39) |
S38G |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,557,615 (GRCm39) |
V171A |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,350 (GRCm39) |
S42T |
probably benign |
Het |
| Itch |
C |
T |
2: 155,010,670 (GRCm39) |
T46I |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,682,366 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
T |
C |
2: 181,024,667 (GRCm39) |
V107A |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,571,195 (GRCm39) |
S50P |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,713,467 (GRCm39) |
V104E |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,383,729 (GRCm39) |
I145K |
possibly damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,008,094 (GRCm39) |
I794N |
possibly damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,569 (GRCm39) |
P387Q |
possibly damaging |
Het |
| Srrm4 |
G |
T |
5: 116,729,527 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
A |
11: 116,657,437 (GRCm39) |
T376S |
probably damaging |
Het |
| Tmem74 |
T |
C |
15: 43,730,782 (GRCm39) |
D87G |
probably benign |
Het |
| Trav19 |
A |
G |
14: 54,083,173 (GRCm39) |
R83G |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,018,665 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
T |
C |
15: 68,096,744 (GRCm39) |
N23S |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation