Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Ripk1'

471635

Institutional Source

Beutler Lab

Gene Symbol

Ripk1

Ensembl Gene

ENSMUSG00000021408

Gene Name

receptor (TNFRSF)-interacting serine-threonine kinase 1

Synonyms

Rinp, Rip1

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34186346-34221130 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34214084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 475 (Y475*)

Gene Model

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

AlphaFold

Q60855

Predicted Effect

probably null
Transcript: ENSMUST00000021844
AA Change: Y535*

SMART Domains

Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: Y535*

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: ENSMUST00000163843

Predicted Effect

probably null
Transcript: ENSMUST00000167374
AA Change: Y535*

SMART Domains

Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: Y535*

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

noncoding transcript
Transcript: ENSMUST00000169557

Predicted Effect

probably null
Transcript: ENSMUST00000171137
AA Change: Y475*

SMART Domains

Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: Y475*

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	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
IGL02383:Ripk1	APN	13	34,199,227 (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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTAAGGATATCATAGGATAAGCAG -3'
(R):5'- GGGAGAACCTTAAAAGAAGATTCTATC -3'

Sequencing Primer
(F):5'- GCAGTTGAACATCTATATTAAAGCCC -3'
(R):5'- AAATTCCCTTCAATGCTGGGAACTG -3'

Posted On

2017-03-31