Mutagenetix > Incidental Mutation

Incidental Mutation 'R9132:Ripk1'

693730

Institutional Source

Beutler Lab

Gene Symbol

Ripk1

Ensembl Gene

ENSMUSG00000021408

Gene Name

receptor (TNFRSF)-interacting serine-threonine kinase 1

Synonyms

Rinp, Rip1

MMRRC Submission

068929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9132 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34186346-34221130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34212184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 498 (N498S)

Ref Sequence

ENSEMBL: ENSMUSP00000021844 (fasta)

Gene Model

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

AlphaFold

Q60855

Predicted Effect

probably benign
Transcript: ENSMUST00000021844
AA Change: N498S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: N498S

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

probably benign
Transcript: ENSMUST00000167374
AA Change: N498S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: N498S

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

SMART Domains

Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: N438S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (65/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AC133488.1	A	T	16: 18,440,075 (GRCm39)	V363E	probably benign	Het
Adamts16	A	G	13: 70,901,408 (GRCm39)	S890P	probably benign	Het
Amd1	A	G	10: 40,169,158 (GRCm39)		probably null	Het
Apcs	A	G	1: 172,722,061 (GRCm39)	I95T	probably damaging	Het
Arhgap18	A	G	10: 26,730,886 (GRCm39)	D188G	probably benign	Het
Arhgap42	C	T	9: 9,011,419 (GRCm39)	V456M	probably damaging	Het
Atp2a2	T	C	5: 122,599,633 (GRCm39)	Y586C	probably damaging	Het
Cbr1	G	C	16: 93,406,794 (GRCm39)	G170A	probably benign	Het
Cdh23	T	A	10: 60,270,283 (GRCm39)		probably benign	Het
Cfap53	T	A	18: 74,416,272 (GRCm39)	Y2N	probably damaging	Het
Clcn3	A	G	8: 61,382,136 (GRCm39)	I511T	probably damaging	Het
Col28a1	T	A	6: 8,014,993 (GRCm39)	D804V	probably damaging	Het
Csmd2	A	G	4: 128,443,007 (GRCm39)	T3253A		Het
Csta3	G	A	16: 36,038,069 (GRCm39)	V69I	probably benign	Het
Cyp2c40	A	T	19: 39,762,317 (GRCm39)	D443E	probably damaging	Het
Cyp7b1	A	G	3: 18,151,476 (GRCm39)	C246R	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnai4	A	G	4: 102,916,930 (GRCm39)	M592T	probably damaging	Het
Dpyd	T	A	3: 118,710,897 (GRCm39)	I435N	probably damaging	Het
Fat2	A	T	11: 55,189,436 (GRCm39)	L1194Q	possibly damaging	Het
Firrm	A	G	1: 163,814,514 (GRCm39)	I143T	probably damaging	Het
Gabrg1	A	T	5: 70,939,622 (GRCm39)	I170N	possibly damaging	Het
Gon4l	C	T	3: 88,815,484 (GRCm39)	P2016S	probably benign	Het
Hax1	T	C	3: 89,903,127 (GRCm39)	R251G	probably damaging	Het
Hbq1b	A	T	11: 32,237,228 (GRCm39)	K41*	probably null	Het
Ido2	G	A	8: 25,023,933 (GRCm39)	P302S	probably damaging	Het
Igf2bp2	G	A	16: 21,900,502 (GRCm39)	T213I	probably damaging	Het
Itga2	A	T	13: 115,014,298 (GRCm39)	L210*	probably null	Het
Kdm1b	G	A	13: 47,225,458 (GRCm39)	S547N	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lyz2	A	T	10: 117,116,562 (GRCm39)	C95*	probably null	Het
Mafa	A	T	15: 75,619,048 (GRCm39)	S242T	possibly damaging	Het
Mapk1	T	C	16: 16,856,300 (GRCm39)		probably null	Het
Mta1	T	A	12: 113,100,025 (GRCm39)	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Naa35	T	C	13: 59,772,341 (GRCm39)	I438T	possibly damaging	Het
Necab2	T	C	8: 120,189,303 (GRCm39)	Y158H	probably damaging	Het
Nphp3	T	A	9: 103,897,980 (GRCm39)	L523Q	probably damaging	Het
Ogdh	A	T	11: 6,290,488 (GRCm39)	I369F	probably benign	Het
Pglyrp4	C	T	3: 90,635,238 (GRCm39)	Q28*	probably null	Het
Pla2g4a	C	T	1: 149,747,230 (GRCm39)	V319I	probably benign	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Prdm6	C	A	18: 53,598,019 (GRCm39)	A127D	unknown	Het
Prop1	T	G	11: 50,843,037 (GRCm39)	E50A		Het
Rnf213	A	G	11: 119,374,742 (GRCm39)	N5069S		Het
Saa3	T	C	7: 46,362,121 (GRCm39)	D41G	probably damaging	Het
Setd2	T	C	9: 110,374,385 (GRCm39)		probably null	Het
Shbg	G	A	11: 69,506,430 (GRCm39)	L327F	probably benign	Het
Slc12a5	G	A	2: 164,835,876 (GRCm39)		probably benign	Het
Slc1a4	C	T	11: 20,258,527 (GRCm39)	G304D	probably damaging	Het
Slf1	T	C	13: 77,249,073 (GRCm39)	K372E	probably benign	Het
Smad2	T	A	18: 76,395,573 (GRCm39)	I4N	possibly damaging	Het
Smad6	A	C	9: 63,914,870 (GRCm39)	S300A	probably benign	Het
Spata31h1	T	C	10: 82,127,896 (GRCm39)	T1705A	possibly damaging	Het
Spem2	T	A	11: 69,707,414 (GRCm39)		probably benign	Het
Syde1	T	C	10: 78,425,340 (GRCm39)	S224G	probably benign	Het
Tacc1	A	T	8: 25,672,151 (GRCm39)	V359E	possibly damaging	Het
Tex15	T	G	8: 34,067,554 (GRCm39)	V2328G	possibly damaging	Het
Tmem43	A	C	6: 91,459,291 (GRCm39)	D254A	probably benign	Het
Trav6d-3	T	A	14: 52,964,210 (GRCm39)	Y58N	possibly damaging	Het
Trrap	A	G	5: 144,726,362 (GRCm39)	E437G	probably benign	Het
Wars1	A	G	12: 108,827,199 (GRCm39)	F474L	probably benign	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp541	T	A	7: 15,816,966 (GRCm39)	V918D	probably benign	Het
Zfp747	T	C	7: 126,974,922 (GRCm39)	D26G	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
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
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'- GGAGCAAGAGGTCATTCTGATC -3'
(R):5'- TTCAATGTGGAAGGCTGCAC -3'

Sequencing Primer
(F):5'- AGAGGTCATTCTGATCCCAGC -3'
(R):5'- GGCTGCACCTGTCTGCTAC -3'

Posted On

2022-01-20