Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Ripk4'

570993

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

045442-MU

Accession Numbers

Essential gene?

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

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97543133-97564979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97544349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 766 (Q766L)

Ref Sequence

ENSEMBL: ENSMUSP00000019386 (fasta)

Gene Model

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

AlphaFold

Q9ERK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000019386
AA Change: Q766L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: Q766L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507 (GRCm39)	D15E	probably damaging	Het
Adamts16	G	A	13: 70,984,399 (GRCm39)	T88I	probably benign	Het
Akap6	A	C	12: 52,958,647 (GRCm39)	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,325,599 (GRCm39)	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,054,582 (GRCm39)	N131S	probably damaging	Het
Astn2	A	T	4: 66,103,503 (GRCm39)	D303E	unknown	Het
Babam1	T	C	8: 71,852,208 (GRCm39)	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,795,495 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,795,477 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,470 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,795,453 (GRCm39)		probably benign	Het
Cnst	C	T	1: 179,434,095 (GRCm39)	P304S	probably benign	Het
Cog4	A	T	8: 111,576,498 (GRCm39)		probably null	Het
Cyp2j13	A	T	4: 95,965,655 (GRCm39)	H17Q	probably benign	Het
Dock6	G	A	9: 21,721,195 (GRCm39)	T1662I	probably damaging	Het
Dysf	T	C	6: 84,044,443 (GRCm39)	F270S	probably damaging	Het
Erbb4	A	G	1: 68,378,514 (GRCm39)		probably null	Het
Fam120b	A	T	17: 15,627,958 (GRCm39)	Q550L	probably benign	Het
Fam83b	A	T	9: 76,400,135 (GRCm39)	F323I	probably benign	Het
Far1	T	A	7: 113,167,349 (GRCm39)	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,108,085 (GRCm39)	I554N	probably damaging	Het
Glrx3	T	C	7: 137,054,453 (GRCm39)	S79P	probably damaging	Het
Hltf	T	C	3: 20,163,534 (GRCm39)	I888T	probably damaging	Het
Hpx	A	G	7: 105,240,917 (GRCm39)	V452A	probably damaging	Het
Itk	T	G	11: 46,258,659 (GRCm39)	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,292,991 (GRCm39)	Q1262*	probably null	Het
Lpcat2	T	C	8: 93,591,611 (GRCm39)	V85A	probably benign	Het
Lrrk2	A	T	15: 91,622,947 (GRCm39)	H1039L	probably benign	Het
Mapk3	T	C	7: 126,360,087 (GRCm39)		probably null	Het
Masp1	A	T	16: 23,288,993 (GRCm39)	N602K	possibly damaging	Het
Myo7a	T	A	7: 97,751,890 (GRCm39)	Q40L	probably benign	Het
Nek1	A	T	8: 61,573,994 (GRCm39)	M1081L	probably benign	Het
Nes	T	C	3: 87,885,058 (GRCm39)	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,257,699 (GRCm39)	I493F	probably damaging	Het
Npsr1	C	G	9: 24,009,557 (GRCm39)	S21C	probably benign	Het
Oog1	G	A	12: 87,653,047 (GRCm39)		probably null	Het
Or11g1	G	A	14: 50,651,159 (GRCm39)	V53M	probably damaging	Het
Or5g24-ps1	G	A	2: 85,463,782 (GRCm39)	R3K	probably benign	Het
Or5k8	A	T	16: 58,644,718 (GRCm39)	M118K	probably damaging	Het
Osbpl9	G	T	4: 108,925,677 (GRCm39)	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,840,621 (GRCm39)	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,677,867 (GRCm39)	R255C	probably damaging	Het
Pgap1	A	G	1: 54,569,293 (GRCm39)	S358P	probably benign	Het
Pgm2l1	A	G	7: 99,917,326 (GRCm39)	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 37,921,545 (GRCm39)	T8A	possibly damaging	Het
Plg	G	T	17: 12,629,798 (GRCm39)	G611C	probably damaging	Het
Prf1	A	C	10: 61,139,059 (GRCm39)	D339A	possibly damaging	Het
Prph	A	G	15: 98,954,807 (GRCm39)	Y291C	probably damaging	Het
Rasal1	A	G	5: 120,792,890 (GRCm39)	S48G	possibly damaging	Het
Rigi	A	G	4: 40,226,600 (GRCm39)	S231P	probably benign	Het
Scaf1	T	C	7: 44,657,208 (GRCm39)	D557G	unknown	Het
Scaper	A	T	9: 55,799,495 (GRCm39)	M190K	unknown	Het
Scn8a	A	T	15: 100,855,460 (GRCm39)	I202F	probably damaging	Het
Siglecf	A	G	7: 43,005,855 (GRCm39)	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,886,297 (GRCm39)	S360P	probably benign	Het
Sla2	C	A	2: 156,720,623 (GRCm39)		probably null	Het
Slc11a1	G	T	1: 74,424,648 (GRCm39)	V544L	probably benign	Het
Slco1a5	T	A	6: 142,180,458 (GRCm39)	K648I	probably benign	Het
Sorcs1	T	A	19: 50,163,595 (GRCm39)	I1020F	possibly damaging	Het
Spen	C	A	4: 141,199,235 (GRCm39)	E3131*	probably null	Het
Sult2a7	A	T	7: 14,211,031 (GRCm39)	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,742,579 (GRCm39)	E69K	probably benign	Het
Tcof1	G	T	18: 60,951,166 (GRCm39)	D1119E	unknown	Het
Tom1l2	A	T	11: 60,139,853 (GRCm39)	I272K	probably damaging	Het
Tspan5	C	T	3: 138,448,193 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,698,244 (GRCm39)	L186P		Het
Uap1l1	T	C	2: 25,251,696 (GRCm39)	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,451,115 (GRCm39)	I117N	possibly damaging	Het
Usp42	A	G	5: 143,702,842 (GRCm39)	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595 (GRCm39)	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,641 (GRCm39)	I421F	probably damaging	Het
Zfp345	G	A	2: 150,314,209 (GRCm39)	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,941,601 (GRCm39)	T259A	probably benign	Het
Zfp941	T	C	7: 140,392,028 (GRCm39)	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,576,212 (GRCm39)	S290A	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
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
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'- AGACAGCTACTCCTGCCTTG -3'
(R):5'- GAATCAGACAGCACTGCACCTG -3'

Sequencing Primer
(F):5'- GTCAGTGTATGGGCAGGCC -3'
(R):5'- ACTGCACCTGGCTGCTG -3'

Posted On

2019-09-13