Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Ripk4'

228412

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

040063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97543133-97564979 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 97545342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 372 (L372*)

Ref Sequence

ENSEMBL: ENSMUSP00000109372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019386] [ENSMUST00000113743]

AlphaFold

Q9ERK0

Predicted Effect

probably null
Transcript: ENSMUST00000019386
AA Change: L435*

SMART Domains

Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: L435*

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 null
Transcript: ENSMUST00000113743
AA Change: L372*

SMART Domains

Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: L372*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
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
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'- TAGCTCCACAATTCCACGTC -3'
(R):5'- GGATGTATCCTGAATGTCCTTGTTC -3'

Sequencing Primer
(F):5'- ACAATTCCACGTCCCTTCCG -3'
(R):5'- AATGTCCTTGTTCAGAGTCCTTAGAC -3'

Posted On

2014-09-17