Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:C130060K24Rik'

536368

Institutional Source

Beutler Lab

Gene Symbol

C130060K24Rik

Ensembl Gene

ENSMUSG00000029917

Gene Name

RIKEN cDNA C130060K24 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65381105-65458150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65456336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 380 (N380I)

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: N380I

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: N380I

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

0.0811

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352	L614P	probably benign	Het
Catsper1	G	T	19: 5,343,963	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657		probably null	Het
Eif3l	A	G	15: 79,085,560	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425		probably null	Het
Fgf23	G	T	6: 127,073,216	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621		probably null	Het
Ipo13	A	T	4: 117,904,911	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Kat6a	G	A	8: 22,932,361	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836		probably null	Het
Ogdh	A	G	11: 6,340,477	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007	N93K	possibly 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
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'- ACCAGACTCCTTTTAGTCATGAG -3'
(R):5'- CTCATTCTGAAGACATTGGTACAG -3'

Sequencing Primer
(F):5'- GAGAATGTTTCACATCATTTAGCCAC -3'
(R):5'- AGTGTTCACGTCTACAGCAG -3'

Posted On

2018-10-18