Mutagenetix > Incidental Mutations

Incidental Mutation 'R7950:C130074G19Rik'

656406

Institutional Source

Beutler Lab

Gene Symbol

C130074G19Rik

Ensembl Gene

ENSMUSG00000039349

Gene Name

RIKEN cDNA C130074G19 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

184871926-184883218 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 184874374 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048308]

Predicted Effect

probably null
Transcript: ENSMUST00000048308

SMART Domains

Protein: ENSMUSP00000041904
Gene: ENSMUSG00000039349

Domain	Start	End	E-Value	Type
Pfam:DUF4710	62	134	1.6e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,979,767	T31I	probably damaging	Het
Adgrf5	G	A	17: 43,451,157	V1248M	probably damaging	Het
Alb	T	C	5: 90,472,464	S478P	probably damaging	Het
Arhgap17	A	G	7: 123,286,816	S698P	probably benign	Het
Arhgef5	A	G	6: 43,273,925	T537A	possibly damaging	Het
Arl6	A	T	16: 59,618,731		probably null	Het
Atp13a4	A	T	16: 29,449,917	W540R		Het
Birc6	A	T	17: 74,593,100	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
C1ql4	T	A	15: 99,084,812	H220L	probably benign	Het
Cacna1s	A	G	1: 136,100,625	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,695,296		probably null	Het
Ccdc36	T	C	9: 108,405,671	T273A	probably benign	Het
Ccl1	T	A	11: 82,179,693	I18L	probably benign	Het
Ecel1	A	T	1: 87,148,269	Y729N	probably damaging	Het
Epha4	T	A	1: 77,507,196	I59F	probably damaging	Het
Filip1l	A	G	16: 57,569,711	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,382	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,783,723	P513A	probably damaging	Het
Gm5624	A	G	14: 44,560,733	Y139H		Het
Golgb1	A	C	16: 36,915,424	I1719L	probably benign	Het
Hsf1	T	C	15: 76,498,193	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,588,294	D108G	probably damaging	Het
Kbtbd3	C	T	9: 4,316,878	Q10*	probably null	Het
Kcnh2	C	T	5: 24,333,036	V110M	probably benign	Het
Magi3	A	C	3: 104,016,689	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,128,068	D1933E	unknown	Het
Mki67	G	A	7: 135,699,724	R1194*	probably null	Het
Nap1l1	T	C	10: 111,492,908	Y233H	probably damaging	Het
Napsa	A	G	7: 44,585,334	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,663,599	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,445,615	I591N	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,067	I35T	possibly damaging	Het
Orc2	T	C	1: 58,467,668	D503G	possibly damaging	Het
Osbp	T	A	19: 11,978,248	S343T	probably benign	Het
Pcdha6	T	G	18: 36,969,426	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,113,437		probably benign	Het
Ppdpf	A	G	2: 181,187,857	Y35C	probably benign	Het
Scrn2	T	A	11: 97,030,929	L75Q	probably damaging	Het
Scube3	G	A	17: 28,171,226	V955I	probably benign	Het
Slc1a1	T	C	19: 28,911,761	V478A	probably benign	Het
Slc4a4	A	G	5: 89,058,278		probably null	Het
Srrm2	T	C	17: 23,808,110	L96P	unknown	Het
Strn	A	T	17: 78,670,423	L175Q		Het

Other mutations in C130074G19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:C130074G19Rik	APN	1	184882746	missense	probably damaging	0.99
IGL03193:C130074G19Rik	APN	1	184882702	missense	probably damaging	1.00
R0008:C130074G19Rik	UTSW	1	184882922	missense	probably benign	0.02
R0798:C130074G19Rik	UTSW	1	184882676	splice site	probably benign
R1512:C130074G19Rik	UTSW	1	184882906	missense	probably damaging	1.00
R1957:C130074G19Rik	UTSW	1	184882898	missense	probably benign
R2351:C130074G19Rik	UTSW	1	184882863	missense	probably benign	0.03
R7246:C130074G19Rik	UTSW	1	184882969	missense	probably damaging	0.99
R7478:C130074G19Rik	UTSW	1	184874427	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCACAGTCAACCAGTTC -3'
(R):5'- ACAGATGTGAAGACACTGGGTC -3'

Sequencing Primer
(F):5'- ACACGAAGCAGGGTTCCTCTTC -3'
(R):5'- CCGTGGAAGAATCAACAC -3'

Posted On

2020-11-06