Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:C130060K24Rik'

730250

Institutional Source

Beutler Lab

Gene Symbol

C130060K24Rik

Ensembl Gene

ENSMUSG00000029917

Gene Name

RIKEN cDNA C130060K24 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65381105-65458150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65456140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 315 (I315V)

Ref Sequence

ENSEMBL: ENSMUSP00000130225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133352] [ENSMUST00000170608]

AlphaFold

G3UWA8

Predicted Effect

probably benign
Transcript: ENSMUST00000133352

SMART Domains

Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	55	113	1.2e-7	PFAM
Pfam:7tm_1	61	122	1.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136016

SMART Domains

Protein: ENSMUSP00000121875
Gene: ENSMUSG00000029917

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170608
AA Change: I315V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: I315V

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	55	346	2.5e-5	PFAM
Pfam:7tm_1	61	331	7.2e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in C130060K24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:C130060K24Rik	APN	6	65381610	missense	probably benign	0.36
IGL03335:C130060K24Rik	APN	6	65453117	critical splice donor site	probably null
R1291:C130060K24Rik	UTSW	6	65452900	nonsense	probably null
R1689:C130060K24Rik	UTSW	6	65381607	missense	possibly damaging	0.84
R1705:C130060K24Rik	UTSW	6	65456306	missense	probably benign	0.01
R2188:C130060K24Rik	UTSW	6	65441276	missense	probably damaging	0.97
R3955:C130060K24Rik	UTSW	6	65453108	missense	possibly damaging	0.73
R4058:C130060K24Rik	UTSW	6	65381541	missense	probably damaging	1.00
R4572:C130060K24Rik	UTSW	6	65454991	missense	probably benign	0.06
R4597:C130060K24Rik	UTSW	6	65447424	critical splice donor site	probably null
R4756:C130060K24Rik	UTSW	6	65452914	missense	probably benign	0.02
R5139:C130060K24Rik	UTSW	6	65456219	missense	probably damaging	0.98
R5872:C130060K24Rik	UTSW	6	65441385	intron	probably benign
R6193:C130060K24Rik	UTSW	6	65456158	missense	probably damaging	1.00
R6305:C130060K24Rik	UTSW	6	65454991	missense	probably benign	0.06
R6423:C130060K24Rik	UTSW	6	65456093	missense	probably benign	0.01
R6453:C130060K24Rik	UTSW	6	65453030	missense	possibly damaging	0.71
R6677:C130060K24Rik	UTSW	6	65456245	missense	probably benign
R6744:C130060K24Rik	UTSW	6	65441340	missense	possibly damaging	0.88
R6793:C130060K24Rik	UTSW	6	65381421	missense	probably benign	0.20
R6875:C130060K24Rik	UTSW	6	65456336	missense	probably benign	0.21
R6941:C130060K24Rik	UTSW	6	65447401	missense	probably damaging	1.00
R6995:C130060K24Rik	UTSW	6	65441301	missense	probably damaging	1.00
R7063:C130060K24Rik	UTSW	6	65441403	intron	probably benign
R7564:C130060K24Rik	UTSW	6	65452907	nonsense	probably null
R7699:C130060K24Rik	UTSW	6	65452956	missense	probably benign	0.30
R7700:C130060K24Rik	UTSW	6	65452956	missense	probably benign	0.30
R7711:C130060K24Rik	UTSW	6	65441373	missense
R7799:C130060K24Rik	UTSW	6	65456137	missense	possibly damaging	0.78
R7801:C130060K24Rik	UTSW	6	65441217	missense	probably damaging	1.00
R8737:C130060K24Rik	UTSW	6	65456276	missense	probably benign
R8762:C130060K24Rik	UTSW	6	65447409	missense	probably benign	0.12
R8927:C130060K24Rik	UTSW	6	65381613	nonsense	probably null
R8928:C130060K24Rik	UTSW	6	65381613	nonsense	probably null
R9317:C130060K24Rik	UTSW	6	65447384	missense	probably benign	0.10
R9405:C130060K24Rik	UTSW	6	65456094	missense	probably benign	0.16
RF018:C130060K24Rik	UTSW	6	65456190	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGGATACCAGACTCCTTTTAGTC -3'
(R):5'- ACAGGATTCTCTCTTGCAGC -3'

Sequencing Primer
(F):5'- ACCAGACTCCTTTTAGTCATGAG -3'
(R):5'- AGGATTCTCTCTTGCAGCTAACTTTG -3'

Posted On

2022-10-06