Mutagenetix > Incidental Mutation

Incidental Mutation 'R8381:4930579F01Rik'

646939

Institutional Source

Beutler Lab

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

MMRRC Submission

067748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R8381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 137879282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000012186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]

AlphaFold

A0A5F8MPV9

Predicted Effect

probably null
Transcript: ENSMUST00000012186

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	17	201	1.9e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000199293

SMART Domains

Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	1	76	9.6e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Adam34	A	G	8: 44,104,847 (GRCm39)	I266T	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Celsr2	T	C	3: 108,302,952 (GRCm39)	N2507S	probably damaging	Het
E2f8	T	C	7: 48,527,710 (GRCm39)	D144G	probably damaging	Het
Eif4enif1	T	C	11: 3,177,470 (GRCm39)	S346P	probably damaging	Het
Fbln5	A	G	12: 101,728,114 (GRCm39)	F270S	probably benign	Het
Fnip2	T	A	3: 79,373,000 (GRCm39)	D1026V	probably damaging	Het
Fubp3	G	A	2: 31,482,509 (GRCm39)		probably null	Het
Gjb6	T	C	14: 57,361,919 (GRCm39)	E114G	probably benign	Het
Gpr160	A	G	3: 30,949,930 (GRCm39)	M1V	probably null	Het
Hey2	A	G	10: 30,709,986 (GRCm39)	S256P	probably damaging	Het
Hnrnpll	A	T	17: 80,337,920 (GRCm39)	H590Q	probably damaging	Het
Ice2	T	A	9: 69,317,453 (GRCm39)	H192Q	probably damaging	Het
Ighv1-20	T	A	12: 114,687,501 (GRCm39)	Q81L	probably benign	Het
Ighv5-2	T	A	12: 113,542,325 (GRCm39)	H51L	probably benign	Het
Jkampl	A	T	6: 73,445,895 (GRCm39)	V218E	probably damaging	Het
Kif27	T	C	13: 58,438,991 (GRCm39)	D1190G	probably benign	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Mettl14	A	G	3: 123,168,447 (GRCm39)	Y198H	probably damaging	Het
Nlrp6	C	T	7: 140,503,754 (GRCm39)	A620V	possibly damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or51b6	T	C	7: 103,556,146 (GRCm39)	F164L		Het
Or5h22	A	G	16: 58,895,225 (GRCm39)	S73P	probably damaging	Het
Or8h10	T	C	2: 86,808,373 (GRCm39)	I256V	probably benign	Het
Pcbp4	G	A	9: 106,338,488 (GRCm39)	A138T	probably damaging	Het
Pramel52-ps	C	T	5: 94,531,881 (GRCm39)	T255I	probably damaging	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo3	T	A	9: 37,341,056 (GRCm39)	D72V	probably damaging	Het
Slc16a5	A	G	11: 115,360,716 (GRCm39)	S300G	probably benign	Het
Smg6	C	T	11: 74,822,566 (GRCm39)	R670W	probably damaging	Het
Smok3c	C	T	5: 138,063,824 (GRCm39)	T437I	probably benign	Het
Stk36	A	G	1: 74,672,333 (GRCm39)	I931V	probably benign	Het
Syk	T	C	13: 52,787,085 (GRCm39)	Y383H	probably benign	Het
Tacc2	T	A	7: 130,225,972 (GRCm39)	S886T	probably benign	Het
Top1	A	G	2: 160,545,594 (GRCm39)	M321V	probably null	Het
Ttc17	A	G	2: 94,132,166 (GRCm39)	L598P	probably damaging	Het
Xdh	T	G	17: 74,219,456 (GRCm39)	I648L	probably benign	Het
Zfhx4	A	C	3: 5,447,676 (GRCm39)	K1126T	probably benign	Het
Zfp729b	T	C	13: 67,739,617 (GRCm39)	T883A	possibly damaging	Het

Other mutations in 4930579F01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:4930579F01Rik	APN	3	137,891,959 (GRCm39)	intron	probably benign
IGL02121:4930579F01Rik	APN	3	137,870,134 (GRCm39)	missense	possibly damaging	0.93
IGL02424:4930579F01Rik	APN	3	137,880,466 (GRCm39)	splice site	probably benign
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0373:4930579F01Rik	UTSW	3	137,879,343 (GRCm39)	missense	probably damaging	0.96
R1082:4930579F01Rik	UTSW	3	137,879,332 (GRCm39)	missense	possibly damaging	0.95
R1163:4930579F01Rik	UTSW	3	137,882,271 (GRCm39)	missense	probably damaging	1.00
R1538:4930579F01Rik	UTSW	3	137,889,517 (GRCm39)	missense	probably damaging	1.00
R2151:4930579F01Rik	UTSW	3	137,882,217 (GRCm39)	critical splice donor site	probably null
R2364:4930579F01Rik	UTSW	3	137,871,584 (GRCm39)	missense	probably benign	0.00
R3978:4930579F01Rik	UTSW	3	137,889,435 (GRCm39)	missense	probably benign	0.01
R4108:4930579F01Rik	UTSW	3	137,889,431 (GRCm39)	missense	probably benign	0.14
R5812:4930579F01Rik	UTSW	3	137,882,299 (GRCm39)	missense	probably damaging	1.00
R5960:4930579F01Rik	UTSW	3	137,889,528 (GRCm39)	missense	possibly damaging	0.58
R6329:4930579F01Rik	UTSW	3	137,879,457 (GRCm39)	missense	probably damaging	1.00
R6599:4930579F01Rik	UTSW	3	137,882,250 (GRCm39)	missense	probably benign	0.00
R6862:4930579F01Rik	UTSW	3	137,891,949 (GRCm39)	intron	probably benign
R6897:4930579F01Rik	UTSW	3	137,889,534 (GRCm39)	missense	possibly damaging	0.85
R7092:4930579F01Rik	UTSW	3	137,889,506 (GRCm39)	missense	probably benign	0.08
R7919:4930579F01Rik	UTSW	3	137,885,311 (GRCm39)	missense	probably damaging	1.00
R9024:4930579F01Rik	UTSW	3	137,891,923 (GRCm39)	missense	unknown
R9180:4930579F01Rik	UTSW	3	137,889,470 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTATGTGCAGTCACTTCCTAGG -3'
(R):5'- GGTAACCCATGCTCTCCAAC -3'

Sequencing Primer
(F):5'- TCACTTCCTAGGTAGAGCTGAGAC -3'
(R):5'- AAAGGAATGGGTATCAGCTCTGGTTC -3'

Posted On

2020-09-02