Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:Ripk3'

408680

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ripk3

Ensembl Gene

ENSMUSG00000022221

Gene Name

receptor-interacting serine-threonine kinase 3

Synonyms

2610528K09Rik, Rip3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

56022452-56026314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56024796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 128 (D128G)

Ref Sequence

ENSEMBL: ENSMUSP00000137278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000022830] [ENSMUST00000168716] [ENSMUST00000170223] [ENSMUST00000178399] [ENSMUST00000228326] [ENSMUST00000228476] [ENSMUST00000227031]

AlphaFold

Q9QZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000002398

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	2.4e-35	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022830
AA Change: D192G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221
AA Change: D192G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	22	288	2.8e-38	PFAM
Pfam:Pkinase_Tyr	22	288	3e-34	PFAM
Pfam:RHIM	408	458	2.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168716
AA Change: D128G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221
AA Change: D128G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170223

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	172	194	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	1.6e-24	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178399
AA Change: D128G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221
AA Change: D128G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226361

Predicted Effect

probably benign
Transcript: ENSMUST00000228326
AA Change: D128G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228077

Predicted Effect

probably benign
Transcript: ENSMUST00000228476

Predicted Effect

probably benign
Transcript: ENSMUST00000227031

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alleles exhibit resistance to induced inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Crybg3	T	A	16: 59,375,542 (GRCm39)	H1904L	possibly damaging	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
H2-T23	T	A	17: 36,343,249 (GRCm39)	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Or4c110	T	C	2: 88,832,459 (GRCm39)	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	probably benign	Het

Other mutations in Ripk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Ripk3	APN	14	56,023,484 (GRCm39)	missense	probably damaging	1.00
IGL02073:Ripk3	APN	14	56,023,482 (GRCm39)	critical splice donor site	probably null
IGL02420:Ripk3	APN	14	56,022,691 (GRCm39)	missense	probably benign	0.02
IGL03033:Ripk3	APN	14	56,024,622 (GRCm39)	unclassified	probably benign
R0211:Ripk3	UTSW	14	56,025,375 (GRCm39)	missense	probably damaging	1.00
R0352:Ripk3	UTSW	14	56,024,200 (GRCm39)	unclassified	probably benign
R0366:Ripk3	UTSW	14	56,024,292 (GRCm39)	missense	probably damaging	0.99
R0634:Ripk3	UTSW	14	56,025,848 (GRCm39)	unclassified	probably benign
R1364:Ripk3	UTSW	14	56,022,717 (GRCm39)	splice site	probably null
R1665:Ripk3	UTSW	14	56,023,808 (GRCm39)	missense	probably benign	0.24
R1794:Ripk3	UTSW	14	56,022,786 (GRCm39)	missense	probably benign	0.45
R1886:Ripk3	UTSW	14	56,025,694 (GRCm39)	critical splice donor site	probably null
R2517:Ripk3	UTSW	14	56,025,492 (GRCm39)	missense	probably damaging	0.97
R3409:Ripk3	UTSW	14	56,025,698 (GRCm39)	missense	probably damaging	0.99
R3806:Ripk3	UTSW	14	56,023,725 (GRCm39)	missense	probably benign	0.00
R5807:Ripk3	UTSW	14	56,022,755 (GRCm39)	missense	probably damaging	1.00
R7138:Ripk3	UTSW	14	56,025,803 (GRCm39)	missense	probably benign
R7278:Ripk3	UTSW	14	56,024,741 (GRCm39)	nonsense	probably null
R8064:Ripk3	UTSW	14	56,025,383 (GRCm39)	missense	possibly damaging	0.94
R9227:Ripk3	UTSW	14	56,023,303 (GRCm39)	missense	probably benign	0.03
R9230:Ripk3	UTSW	14	56,023,303 (GRCm39)	missense	probably benign	0.03
R9775:Ripk3	UTSW	14	56,023,252 (GRCm39)	missense	unknown
Z1088:Ripk3	UTSW	14	56,025,383 (GRCm39)	missense	possibly damaging	0.94

Posted On

2016-08-02