Incidental Mutation 'R1364:Ripk3'
| ID |
162863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripk3
|
| Ensembl Gene |
ENSMUSG00000022221 |
| Gene Name |
receptor-interacting serine-threonine kinase 3 |
| Synonyms |
2610528K09Rik, Rip3 |
| MMRRC Submission |
039429-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56022452-56026314 bp(-) (GRCm39) |
| Type of Mutation |
splice site (505 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 56022717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002398]
[ENSMUST00000022830]
[ENSMUST00000168716]
[ENSMUST00000170223]
[ENSMUST00000178399]
[ENSMUST00000227031]
[ENSMUST00000228326]
[ENSMUST00000228476]
|
| AlphaFold |
Q9QZL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002398
|
| SMART Domains |
Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
|
Pfam:DUF1053
|
479 |
581 |
2.4e-35 |
PFAM |
|
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
|
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
|
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
|
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022830
AA Change: S466R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221
AA Change: S466R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
22 |
288 |
2.8e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
22 |
288 |
3e-34 |
PFAM |
|
Pfam:RHIM
|
408 |
458 |
2.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168716
AA Change: S402R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221
AA Change: S402R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
223 |
1.2e-30 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
224 |
3.1e-27 |
PFAM |
|
Pfam:RHIM
|
344 |
395 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170223
|
| SMART Domains |
Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
61 |
80 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
145 |
162 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
|
CYCc
|
218 |
426 |
1.56e-62 |
SMART |
|
Pfam:DUF1053
|
479 |
581 |
1.6e-24 |
PFAM |
|
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
transmembrane domain
|
717 |
739 |
N/A |
INTRINSIC |
|
transmembrane domain
|
746 |
768 |
N/A |
INTRINSIC |
|
transmembrane domain
|
792 |
809 |
N/A |
INTRINSIC |
|
CYCc
|
835 |
1057 |
4.46e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178399
AA Change: S402R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221
AA Change: S402R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
223 |
1.2e-30 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
224 |
3.1e-27 |
PFAM |
|
Pfam:RHIM
|
344 |
395 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227031
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228077
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228476
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alleles exhibit resistance to induced inflammatory responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Ripk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Ripk3
|
APN |
14 |
56,023,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02073:Ripk3
|
APN |
14 |
56,023,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02420:Ripk3
|
APN |
14 |
56,022,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03033:Ripk3
|
APN |
14 |
56,024,622 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03036:Ripk3
|
APN |
14 |
56,024,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0211:Ripk3
|
UTSW |
14 |
56,025,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Ripk3
|
UTSW |
14 |
56,024,200 (GRCm39) |
unclassified |
probably benign |
|
|
R0366:Ripk3
|
UTSW |
14 |
56,024,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Ripk3
|
UTSW |
14 |
56,025,848 (GRCm39) |
unclassified |
probably benign |
|
|
R1665:Ripk3
|
UTSW |
14 |
56,023,808 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1794:Ripk3
|
UTSW |
14 |
56,022,786 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1886:Ripk3
|
UTSW |
14 |
56,025,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2517:Ripk3
|
UTSW |
14 |
56,025,492 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3409:Ripk3
|
UTSW |
14 |
56,025,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3806:Ripk3
|
UTSW |
14 |
56,023,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5807:Ripk3
|
UTSW |
14 |
56,022,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Ripk3
|
UTSW |
14 |
56,025,803 (GRCm39) |
missense |
probably benign |
|
|
R7278:Ripk3
|
UTSW |
14 |
56,024,741 (GRCm39) |
nonsense |
probably null |
|
|
R8064:Ripk3
|
UTSW |
14 |
56,025,383 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9227:Ripk3
|
UTSW |
14 |
56,023,303 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9230:Ripk3
|
UTSW |
14 |
56,023,303 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9775:Ripk3
|
UTSW |
14 |
56,023,252 (GRCm39) |
missense |
unknown |
|
|
Z1088:Ripk3
|
UTSW |
14 |
56,025,383 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCCTGGATTGACACCTCAGAC -3'
(R):5'- TGAAGACCCTGCATTTGCATTCCC -3'
Sequencing Primer
(F):5'- CACAGAATGTTGTGAGCTTCAG -3'
(R):5'- AGATCACAAGGTGTCGCTGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation