Incidental Mutation 'R2135:Ripk4'
| ID |
235759 |
| 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 |
040138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R2135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97543133-97564979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97544933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 571
(D571E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019386]
[ENSMUST00000113743]
|
| AlphaFold |
Q9ERK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019386
AA Change: D571E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: D571E
| 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 |
probably damaging
Transcript: ENSMUST00000113743
AA Change: D508E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: D508E
| 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 |
|
| Meta Mutation Damage Score |
0.1928 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (70/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,509 (GRCm39) |
H116Q |
probably benign |
Het |
| Adamts16 |
C |
A |
13: 70,949,126 (GRCm39) |
L178F |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,676 (GRCm39) |
|
probably null |
Het |
| Akap9 |
A |
G |
5: 4,114,509 (GRCm39) |
T46A |
probably damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,498 (GRCm39) |
L253P |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,107,509 (GRCm39) |
D1336G |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,403,712 (GRCm39) |
L992I |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,868,760 (GRCm39) |
I574N |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,697,923 (GRCm39) |
T74M |
probably damaging |
Het |
| Ces5a |
C |
A |
8: 94,226,369 (GRCm39) |
E481D |
probably benign |
Het |
| Cfap74 |
C |
G |
4: 155,514,397 (GRCm39) |
N544K |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,514,408 (GRCm39) |
L548Q |
probably damaging |
Het |
| Cfb |
C |
T |
17: 35,076,254 (GRCm39) |
V1145I |
possibly damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,433 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,123,604 (GRCm39) |
L153Q |
possibly damaging |
Het |
| Cox6c |
T |
C |
15: 35,937,429 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,623,465 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ext1 |
G |
T |
15: 52,965,140 (GRCm39) |
Q409K |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,034,882 (GRCm39) |
I2845F |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,941,771 (GRCm39) |
N494S |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,431,583 (GRCm39) |
T305A |
probably benign |
Het |
| Gbx1 |
G |
T |
5: 24,731,220 (GRCm39) |
R199S |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,044,638 (GRCm39) |
R192G |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,700,726 (GRCm39) |
D572V |
probably damaging |
Het |
| Idh1 |
A |
C |
1: 65,201,078 (GRCm39) |
M291R |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,356,551 (GRCm39) |
Y330C |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,656 (GRCm39) |
L922P |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,215 (GRCm39) |
D346G |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,070,609 (GRCm39) |
S96P |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Marchf6 |
A |
T |
15: 31,509,910 (GRCm39) |
C26* |
probably null |
Het |
| Msra |
G |
A |
14: 64,360,657 (GRCm39) |
P228L |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,383,378 (GRCm39) |
D395E |
probably benign |
Het |
| Ncr1 |
C |
A |
7: 4,343,756 (GRCm39) |
|
probably benign |
Het |
| Nkd1 |
T |
C |
8: 89,318,278 (GRCm39) |
I201T |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,945,834 (GRCm39) |
|
probably benign |
Het |
| Or2t48 |
A |
C |
11: 58,420,611 (GRCm39) |
I67S |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,211,593 (GRCm39) |
D32E |
probably benign |
Het |
| Pate5 |
A |
C |
9: 35,750,479 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,700,707 (GRCm39) |
Y1743C |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,526,225 (GRCm39) |
H281Q |
possibly damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,088,757 (GRCm39) |
M522R |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,325 (GRCm39) |
F72S |
possibly damaging |
Het |
| Prima1 |
A |
T |
12: 103,168,949 (GRCm39) |
F106L |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,627,965 (GRCm39) |
H142R |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,120,374 (GRCm39) |
A793V |
probably benign |
Het |
| Rbsn |
T |
A |
6: 92,166,854 (GRCm39) |
M597L |
probably benign |
Het |
| Rp9 |
T |
C |
9: 22,379,425 (GRCm39) |
K25E |
possibly damaging |
Het |
| Sec31b |
T |
C |
19: 44,523,135 (GRCm39) |
S211G |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,964,971 (GRCm39) |
P1070S |
probably damaging |
Het |
| Sla |
A |
G |
15: 66,654,563 (GRCm39) |
V241A |
probably benign |
Het |
| Slc25a40 |
A |
G |
5: 8,477,489 (GRCm39) |
T25A |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,685,608 (GRCm39) |
S164P |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,610,444 (GRCm39) |
W457R |
probably null |
Het |
| Slco6c1 |
A |
G |
1: 97,032,542 (GRCm39) |
M303T |
probably benign |
Het |
| Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Tecta |
A |
C |
9: 42,251,581 (GRCm39) |
C1781G |
probably damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,319,313 (GRCm39) |
H280Q |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem30b |
A |
G |
12: 73,592,107 (GRCm39) |
L336P |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,685,575 (GRCm39) |
I943V |
probably benign |
Het |
| Tshb |
A |
G |
3: 102,685,464 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,818,035 (GRCm39) |
V116A |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,880,219 (GRCm39) |
Y156H |
probably benign |
Het |
| Zcrb1 |
T |
C |
15: 93,295,067 (GRCm39) |
N23S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,292,826 (GRCm39) |
R2108G |
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 |
|
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 |
|
R6343:Ripk4
|
UTSW |
16 |
97,564,726 (GRCm39) |
critical splice donor site |
probably benign |
|
|
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'- AACATCAGAGCACAGGTCAATG -3'
(R):5'- GTCAATGCCAAGGATGAAGACC -3'
Sequencing Primer
(F):5'- TCAATGAGAATGCGAGCCAC -3'
(R):5'- ACTTTGCAGCCCAGAATGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation