Incidental Mutation 'R6343:Ripk4'
| ID |
514022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripk4
|
| Ensembl Gene |
ENSMUSG00000005251 |
| Gene Name |
receptor-interacting serine-threonine kinase 4 |
| Synonyms |
RIP4, ANKK2, Ankrd3, PKK, DIk |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97543133-97564979 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 97564726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019386]
[ENSMUST00000113743]
|
| AlphaFold |
Q9ERK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019386
|
| SMART Domains |
Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
22 |
283 |
1.8e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
23 |
283 |
6e-45 |
PFAM |
|
low complexity region
|
356 |
396 |
N/A |
INTRINSIC |
|
ANK
|
439 |
468 |
2.58e-3 |
SMART |
|
ANK
|
472 |
501 |
3.41e-3 |
SMART |
|
ANK
|
505 |
534 |
7.42e-4 |
SMART |
|
ANK
|
538 |
567 |
3.57e-6 |
SMART |
|
ANK
|
571 |
601 |
3.85e-2 |
SMART |
|
ANK
|
605 |
634 |
3.15e-7 |
SMART |
|
ANK
|
638 |
667 |
5.16e-3 |
SMART |
|
ANK
|
671 |
700 |
2.2e-6 |
SMART |
|
ANK
|
704 |
734 |
1.68e-2 |
SMART |
|
ANK
|
736 |
765 |
3.46e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113743
|
| SMART Domains |
Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
220 |
1e-39 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
220 |
7.4e-39 |
PFAM |
|
low complexity region
|
293 |
333 |
N/A |
INTRINSIC |
|
ANK
|
376 |
405 |
2.58e-3 |
SMART |
|
ANK
|
409 |
438 |
3.41e-3 |
SMART |
|
ANK
|
442 |
471 |
7.42e-4 |
SMART |
|
ANK
|
475 |
504 |
3.57e-6 |
SMART |
|
ANK
|
508 |
538 |
3.85e-2 |
SMART |
|
ANK
|
542 |
571 |
3.15e-7 |
SMART |
|
ANK
|
575 |
604 |
5.16e-3 |
SMART |
|
ANK
|
608 |
637 |
2.2e-6 |
SMART |
|
ANK
|
641 |
671 |
1.68e-2 |
SMART |
|
ANK
|
673 |
702 |
3.46e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Ripk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Ripk4
|
APN |
16 |
97,552,696 (GRCm39) |
nonsense |
probably null |
|
|
IGL01823:Ripk4
|
APN |
16 |
97,556,483 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01921:Ripk4
|
APN |
16 |
97,544,565 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02023:Ripk4
|
APN |
16 |
97,556,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Ripk4
|
APN |
16 |
97,556,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02709:Ripk4
|
APN |
16 |
97,544,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1citation:Ripk4
|
UTSW |
16 |
97,547,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Ripk4
|
UTSW |
16 |
97,549,345 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4495001:Ripk4
|
UTSW |
16 |
97,544,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0060:Ripk4
|
UTSW |
16 |
97,564,718 (GRCm39) |
splice site |
probably benign |
|
|
R0112:Ripk4
|
UTSW |
16 |
97,544,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0383:Ripk4
|
UTSW |
16 |
97,549,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Ripk4
|
UTSW |
16 |
97,556,487 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Ripk4
|
UTSW |
16 |
97,545,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Ripk4
|
UTSW |
16 |
97,545,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Ripk4
|
UTSW |
16 |
97,545,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Ripk4
|
UTSW |
16 |
97,551,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Ripk4
|
UTSW |
16 |
97,545,342 (GRCm39) |
nonsense |
probably null |
|
|
R2134:Ripk4
|
UTSW |
16 |
97,544,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Ripk4
|
UTSW |
16 |
97,544,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Ripk4
|
UTSW |
16 |
97,545,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3411:Ripk4
|
UTSW |
16 |
97,545,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4538:Ripk4
|
UTSW |
16 |
97,544,352 (GRCm39) |
nonsense |
probably null |
|
|
R4627:Ripk4
|
UTSW |
16 |
97,545,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Ripk4
|
UTSW |
16 |
97,556,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4704:Ripk4
|
UTSW |
16 |
97,547,204 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Ripk4
|
UTSW |
16 |
97,545,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Ripk4
|
UTSW |
16 |
97,552,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4860:Ripk4
|
UTSW |
16 |
97,552,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5240:Ripk4
|
UTSW |
16 |
97,544,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5864:Ripk4
|
UTSW |
16 |
97,564,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6027:Ripk4
|
UTSW |
16 |
97,545,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Ripk4
|
UTSW |
16 |
97,545,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Ripk4
|
UTSW |
16 |
97,545,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Ripk4
|
UTSW |
16 |
97,556,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Ripk4
|
UTSW |
16 |
97,547,105 (GRCm39) |
nonsense |
probably null |
|
|
R6783:Ripk4
|
UTSW |
16 |
97,549,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Ripk4
|
UTSW |
16 |
97,547,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Ripk4
|
UTSW |
16 |
97,548,523 (GRCm39) |
splice site |
probably null |
|
|
R7251:Ripk4
|
UTSW |
16 |
97,544,449 (GRCm39) |
missense |
probably benign |
|
|
R7275:Ripk4
|
UTSW |
16 |
97,545,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7356:Ripk4
|
UTSW |
16 |
97,544,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7621:Ripk4
|
UTSW |
16 |
97,547,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Ripk4
|
UTSW |
16 |
97,564,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8067:Ripk4
|
UTSW |
16 |
97,564,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8191:Ripk4
|
UTSW |
16 |
97,564,726 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8742:Ripk4
|
UTSW |
16 |
97,556,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Ripk4
|
UTSW |
16 |
97,547,203 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9209:Ripk4
|
UTSW |
16 |
97,551,311 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9513:Ripk4
|
UTSW |
16 |
97,547,098 (GRCm39) |
nonsense |
probably null |
|
|
R9784:Ripk4
|
UTSW |
16 |
97,549,306 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1176:Ripk4
|
UTSW |
16 |
97,551,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ripk4
|
UTSW |
16 |
97,556,378 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTTCTCTAAGCCCGGCG -3'
(R):5'- TACAGTGAGAAGTTGGCCAG -3'
Sequencing Primer
(F):5'- ACCGCAGCATTTGGTGG -3'
(R):5'- AGGCTGCTTGCGATACG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation