Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Ripk4'

348910

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

041892-MU

Accession Numbers

Essential gene?

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

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97543133-97564979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97545226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 474 (S474T)

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: S474T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: S474T

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: S411T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: S411T

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Apbb2	C	T	5: 66,557,419 (GRCm39)		probably null	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mmachc	A	T	4: 116,560,668 (GRCm39)	S276T	probably damaging	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,753,623 (GRCm39)	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pde4b	T	C	4: 102,458,802 (GRCm39)	L486S	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	probably 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
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'- GCTACATGCATGGGTGTTCG -3'
(R):5'- TGGATGCCATCATATCAGGGGAC -3'

Sequencing Primer
(F):5'- ATGGGTGTTCGGCCCTCAAAG -3'
(R):5'- CACCAGCAGGCTGATGAAGATC -3'

Posted On

2015-10-08