Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02383:Ripk1'

291465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ripk1

Ensembl Gene

ENSMUSG00000021408

Gene Name

receptor (TNFRSF)-interacting serine-threonine kinase 1

Synonyms

Rinp, Rip1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02383

Quality Score

Status

Chromosome

Chromosomal Location

34186346-34221130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34199227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 193 (Y193C)

Ref Sequence

ENSEMBL: ENSMUSP00000129831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021844] [ENSMUST00000167374]

AlphaFold

Q60855

Predicted Effect

probably damaging
Transcript: ENSMUST00000021844
AA Change: Y193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: Y193C

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	286	1.2e-52	PFAM
Pfam:Pkinase	18	286	6.2e-51	PFAM
Pfam:Kinase-like	84	247	7.4e-8	PFAM
Pfam:RHIM	480	538	5.9e-10	PFAM
DEATH	558	654	1.2e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163418

Predicted Effect

probably damaging
Transcript: ENSMUST00000167374
AA Change: Y193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: Y193C

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	286	5.2e-54	PFAM
Pfam:Pkinase	18	286	1.1e-53	PFAM
Pfam:RHIM	493	539	5.2e-16	PFAM
DEATH	558	654	1.2e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171137
AA Change: Y133C

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

SMART Domains

Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: Y133C

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	4	116	2.6e-14	PFAM
Pfam:Pkinase	5	109	1.7e-14	PFAM
Pfam:Pkinase	92	227	2.9e-14	PFAM
Pfam:Pkinase_Tyr	94	227	2.9e-21	PFAM
Pfam:RHIM	421	479	2.3e-10	PFAM
DEATH	499	595	1.2e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222176

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die within 1 and 3 days of birth displaying extensive apoptosis in both lymphoid and adipose tissue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	C	6: 133,269,205 (GRCm39)		probably benign	Het
Adap2	C	A	11: 80,051,015 (GRCm39)	A115D	probably damaging	Het
Ankrd1	A	G	19: 36,097,165 (GRCm39)	V6A	probably benign	Het
Apobr	T	A	7: 126,185,779 (GRCm39)	V430E	probably benign	Het
Arhgap28	A	G	17: 68,203,084 (GRCm39)	V123A	probably benign	Het
Atp2b2	A	G	6: 113,790,903 (GRCm39)	V167A	probably damaging	Het
B3galnt2	A	T	13: 14,171,618 (GRCm39)	*505C	probably null	Het
Bcat2	T	A	7: 45,237,431 (GRCm39)	L305Q	probably damaging	Het
Coa8	T	A	12: 111,690,847 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,224,339 (GRCm39)	S174P	unknown	Het
Ddx41	A	T	13: 55,680,170 (GRCm39)	D418E	probably benign	Het
Defa40	A	G	8: 21,740,377 (GRCm39)	D61G	probably damaging	Het
Exoc6	T	C	19: 37,566,922 (GRCm39)	F240L	probably benign	Het
Fbln7	G	A	2: 128,737,477 (GRCm39)	V431I	probably benign	Het
Gfral	T	A	9: 76,104,374 (GRCm39)	N213Y	probably damaging	Het
Golgb1	A	G	16: 36,706,562 (GRCm39)	D22G	probably benign	Het
H2-M1	G	A	17: 36,981,141 (GRCm39)	T298I	unknown	Het
Haus3	A	T	5: 34,323,580 (GRCm39)	Y343*	probably null	Het
Hid1	T	C	11: 115,243,446 (GRCm39)	E534G	probably damaging	Het
Il4ra	T	C	7: 125,170,676 (GRCm39)	V196A	probably benign	Het
Itm2b	C	A	14: 73,600,536 (GRCm39)	E255*	probably null	Het
Kidins220	A	T	12: 25,047,332 (GRCm39)		probably benign	Het
Klhl22	T	A	16: 17,594,762 (GRCm39)	F297Y	possibly damaging	Het
Krt9	T	C	11: 100,082,041 (GRCm39)	E253G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Map3k6	T	A	4: 132,973,932 (GRCm39)		probably null	Het
Med29	C	A	7: 28,086,448 (GRCm39)	R120L	possibly damaging	Het
Napa	C	T	7: 15,846,503 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,961,624 (GRCm39)	Y351N	probably benign	Het
Nphs1	C	T	7: 30,181,060 (GRCm39)		probably benign	Het
Or5b94	A	G	19: 12,651,899 (GRCm39)	D110G	probably benign	Het
Prss16	T	C	13: 22,193,697 (GRCm39)	I33V	probably benign	Het
Rph3a	C	T	5: 121,102,002 (GRCm39)	R78H	probably damaging	Het
Rrp9	T	A	9: 106,362,471 (GRCm39)	I452N	probably damaging	Het
Ryr2	A	T	13: 11,737,607 (GRCm39)		probably benign	Het
Sec23a	A	G	12: 59,048,813 (GRCm39)	L103P	probably damaging	Het
Slc17a9	A	C	2: 180,377,674 (GRCm39)	D190A	probably benign	Het
Slc44a4	G	A	17: 35,146,686 (GRCm39)	V422I	probably benign	Het
Smc5	C	T	19: 23,191,996 (GRCm39)		probably benign	Het
Tax1bp1	C	T	6: 52,730,351 (GRCm39)	S611F	probably benign	Het
Tmem38b	G	A	4: 53,854,345 (GRCm39)	M192I	probably benign	Het
Unc45a	G	T	7: 79,989,410 (GRCm39)	C34*	probably null	Het
Usp46	T	A	5: 74,190,014 (GRCm39)	M6L	probably benign	Het
Uspl1	G	A	5: 149,150,212 (GRCm39)	V471M	probably damaging	Het
Vmn1r35	T	A	6: 66,655,875 (GRCm39)	Q265L	probably damaging	Het
Vmn1r35	G	T	6: 66,655,876 (GRCm39)	Q265K	probably damaging	Het
Vmn1r50	A	G	6: 90,084,461 (GRCm39)	I69V	possibly damaging	Het
Vps33b	A	G	7: 79,935,082 (GRCm39)		probably null	Het
Xntrpc	A	C	7: 101,742,802 (GRCm39)	D604A	probably damaging	Het
Yeats4	T	A	10: 117,051,716 (GRCm39)	R180S	probably benign	Het

Other mutations in Ripk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Ripk1	APN	13	34,199,251 (GRCm39)	missense	probably damaging	0.96
IGL01873:Ripk1	APN	13	34,193,707 (GRCm39)	missense	probably damaging	1.00
IGL02478:Ripk1	APN	13	34,194,572 (GRCm39)	missense	probably damaging	1.00
R0115:Ripk1	UTSW	13	34,193,733 (GRCm39)	missense	probably damaging	1.00
R0481:Ripk1	UTSW	13	34,193,733 (GRCm39)	missense	probably damaging	1.00
R0630:Ripk1	UTSW	13	34,211,764 (GRCm39)	missense	probably damaging	1.00
R1105:Ripk1	UTSW	13	34,212,150 (GRCm39)	missense	probably benign
R1528:Ripk1	UTSW	13	34,212,130 (GRCm39)	missense	probably benign	0.01
R1834:Ripk1	UTSW	13	34,199,196 (GRCm39)	missense	probably benign	0.00
R2294:Ripk1	UTSW	13	34,200,991 (GRCm39)	missense	probably benign
R2384:Ripk1	UTSW	13	34,214,026 (GRCm39)	missense	probably benign	0.03
R4510:Ripk1	UTSW	13	34,210,731 (GRCm39)	missense	probably damaging	1.00
R4511:Ripk1	UTSW	13	34,210,731 (GRCm39)	missense	probably damaging	1.00
R4697:Ripk1	UTSW	13	34,211,925 (GRCm39)	nonsense	probably null
R5078:Ripk1	UTSW	13	34,201,082 (GRCm39)	missense	probably damaging	1.00
R5153:Ripk1	UTSW	13	34,197,279 (GRCm39)	missense	probably damaging	1.00
R5974:Ripk1	UTSW	13	34,214,084 (GRCm39)	nonsense	probably null
R6189:Ripk1	UTSW	13	34,216,484 (GRCm39)	missense	probably benign	0.16
R6676:Ripk1	UTSW	13	34,194,587 (GRCm39)	missense	probably damaging	1.00
R6905:Ripk1	UTSW	13	34,211,973 (GRCm39)	missense	probably benign
R6997:Ripk1	UTSW	13	34,201,100 (GRCm39)	missense	probably benign	0.00
R7009:Ripk1	UTSW	13	34,214,045 (GRCm39)	missense	probably damaging	1.00
R7956:Ripk1	UTSW	13	34,193,666 (GRCm39)	missense	probably benign	0.02
R8497:Ripk1	UTSW	13	34,211,934 (GRCm39)	missense	probably damaging	0.98
R8680:Ripk1	UTSW	13	34,214,032 (GRCm39)	missense	possibly damaging	0.54
R9021:Ripk1	UTSW	13	34,205,373 (GRCm39)	missense	probably benign	0.38
R9132:Ripk1	UTSW	13	34,212,184 (GRCm39)	missense	probably benign	0.01
R9620:Ripk1	UTSW	13	34,210,806 (GRCm39)	missense	possibly damaging	0.91
Z1177:Ripk1	UTSW	13	34,212,118 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16