Mutagenetix > Incidental Mutation

Incidental Mutation 'R4665:Ripk4'

351867

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

041923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R4665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97543133-97564979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97556273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 157 (V157I)

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: V157I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: V157I

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

possibly damaging
Transcript: ENSMUST00000113743
AA Change: V94I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: V94I

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

0.2978

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,902,059 (GRCm39)	M76K	probably null	Het
Abcc4	A	G	14: 118,766,414 (GRCm39)	I886T	probably benign	Het
Adam6a	T	C	12: 113,507,992 (GRCm39)	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,787,947 (GRCm39)	T905A	probably benign	Het
Arap2	A	G	5: 62,827,312 (GRCm39)	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,845,113 (GRCm39)	G1439V	possibly damaging	Het
Atm	A	G	9: 53,375,529 (GRCm39)	W2097R	probably benign	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
AU016765	T	A	17: 64,826,916 (GRCm39)		noncoding transcript	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Chmp7	A	T	14: 69,958,404 (GRCm39)	V255D	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Crygn	T	A	5: 24,956,019 (GRCm39)		probably benign	Het
Csde1	C	T	3: 102,954,388 (GRCm39)	T386M	probably damaging	Het
Cux1	G	A	5: 136,315,653 (GRCm39)	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dhx16	T	C	17: 36,190,835 (GRCm39)	V11A	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Eif5b	A	G	1: 38,084,793 (GRCm39)	E880G	probably damaging	Het
Eml6	A	T	11: 29,769,007 (GRCm39)	Y67*	probably null	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fhip1a	A	T	3: 85,637,988 (GRCm39)	W104R	probably damaging	Het
Gak	A	G	5: 108,730,826 (GRCm39)	I860T	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Gdf2	A	G	14: 33,667,408 (GRCm39)	T377A	probably damaging	Het
Gm2431	A	T	7: 141,811,440 (GRCm39)	C155S	unknown	Het
Gm5814	A	G	17: 47,721,288 (GRCm39)	M1V	probably null	Het
Gm5901	C	G	7: 105,026,438 (GRCm39)	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,371,202 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,908,956 (GRCm39)	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,220,483 (GRCm39)	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,356,926 (GRCm39)	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,442,598 (GRCm39)	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,352,853 (GRCm39)	V899A	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lig3	G	A	11: 82,691,076 (GRCm39)	V110M	probably damaging	Het
Lin54	C	A	5: 100,600,943 (GRCm39)	Q262H	possibly damaging	Het
Lingo3	G	A	10: 80,671,372 (GRCm39)	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Ly86	T	A	13: 37,559,010 (GRCm39)	F70I	probably damaging	Het
Mospd2	A	T	X: 163,730,329 (GRCm39)	S301T	probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Myo15a	A	T	11: 60,395,705 (GRCm39)		probably null	Het
Nme8	C	G	13: 19,858,605 (GRCm39)	A78P	probably damaging	Het
Obscn	C	T	11: 59,015,578 (GRCm39)	V965M	probably damaging	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Parn	T	C	16: 13,358,967 (GRCm39)	K592E	probably benign	Het
Pax6	C	A	2: 105,514,343 (GRCm39)		probably benign	Het
Pdcd6	A	T	13: 74,465,325 (GRCm39)	M1K	probably null	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,310,852 (GRCm39)	A28V	probably benign	Het
Pkn3	C	A	2: 29,975,469 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,814,300 (GRCm39)		probably null	Het
Ptprg	A	C	14: 12,215,288 (GRCm38)	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,707,338 (GRCm39)	I281M	probably damaging	Het
Ramac	C	T	7: 81,418,178 (GRCm39)	R78W	probably damaging	Het
Retreg2	G	T	1: 75,121,310 (GRCm39)	L195F	probably damaging	Het
Rgs20	G	C	1: 5,091,231 (GRCm39)	F66L	probably benign	Het
Ryr2	T	C	13: 11,765,571 (GRCm39)		probably null	Het
Scaper	A	T	9: 55,819,339 (GRCm39)	S125R	probably damaging	Het
Sec16a	C	T	2: 26,302,970 (GRCm39)		probably benign	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,335,972 (GRCm39)		probably benign	Het
Slc9a5	A	G	8: 106,094,760 (GRCm39)	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,053 (GRCm39)	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,687,454 (GRCm39)	I46L	possibly damaging	Het
Stil	A	G	4: 114,898,841 (GRCm39)	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tdpoz6	G	A	3: 93,599,776 (GRCm39)	H198Y	probably damaging	Het
Tdrd6	T	A	17: 43,935,007 (GRCm39)	M2014L	probably benign	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Tpr	C	T	1: 150,320,150 (GRCm39)	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vgll1	A	G	X: 56,137,792 (GRCm39)	R54G	possibly damaging	Het
Wdr72	A	G	9: 74,117,306 (GRCm39)	T673A	probably benign	Het
Zfp169	C	T	13: 48,644,339 (GRCm39)		probably benign	Het
Zfp319	G	A	8: 96,052,201 (GRCm39)		probably benign	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
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'- ATGTTCAGATCAAATGTGGCCAG -3'
(R):5'- AACCTGTCGGCTTGGTCATG -3'

Sequencing Primer
(F):5'- CAAATGTGGCCAGCTGGGTTC -3'
(R):5'- CGGCTTGGTCATGGAGTAC -3'

Posted On

2015-10-08