Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:C130060K24Rik'

342189

Institutional Source

Beutler Lab

Gene Symbol

C130060K24Rik

Ensembl Gene

ENSMUSG00000029917

Gene Name

RIKEN cDNA C130060K24 gene

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65381105-65458150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65454991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 293 (M293L)

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: M293L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: M293L

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

Meta Mutation Damage Score

0.1429

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	probably benign	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
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
R9712:C130060K24Rik	UTSW	6	65456140	missense	probably benign	0.00
RF018:C130060K24Rik	UTSW	6	65456190	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCATAGCCTCAGGAACTC -3'
(R):5'- GTCACCTACCACATGATGACCTG -3'

Sequencing Primer
(F):5'- TGCATGAAAACATGTGGTCTAGTGC -3'
(R):5'- AGACTACACATGAGATGGG -3'

Posted On

2015-09-24