Mutagenetix > Incidental Mutation

Incidental Mutation 'R3054:5730596B20Rik'

265067

Institutional Source

Beutler Lab

Gene Symbol

5730596B20Rik

Ensembl Gene

ENSMUSG00000056468

Gene Name

RIKEN cDNA 5730596B20 gene

Synonyms

MMRRC Submission

040563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R3054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52154135-52157831 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 52156108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070587] [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000070587
AA Change: D58V

SMART Domains

Protein: ENSMUSP00000069583
Gene: ENSMUSG00000056468
AA Change: D58V

Domain	Start	End	E-Value	Type
low complexity region	64	79	N/A	INTRINSIC
low complexity region	96	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114434

SMART Domains

Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

Domain	Start	End	E-Value	Type
low complexity region	76	131	N/A	INTRINSIC
HOX	192	254	3.35e-28	SMART
low complexity region	287	302	N/A	INTRINSIC
low complexity region	304	326	N/A	INTRINSIC
Pfam:DUF4074	377	441	9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Predicted Effect

probably benign
Transcript: ENSMUST00000134831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191453

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Als2	A	G	1: 59,254,653 (GRCm39)	C235R	probably damaging	Het
Armc6	C	A	8: 70,677,799 (GRCm39)	V177L	probably benign	Het
Asb7	A	T	7: 66,328,959 (GRCm39)	V27D	probably damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cntn5	A	G	9: 10,419,076 (GRCm39)	L7P	probably benign	Het
Cst3	A	G	2: 148,713,951 (GRCm39)	S118P	probably damaging	Het
Cyp2a22	T	C	7: 26,638,254 (GRCm39)	D84G	probably damaging	Het
Ddo	A	G	10: 40,507,738 (GRCm39)	N45S	probably benign	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fras1	A	T	5: 96,912,802 (GRCm39)	I3369F	probably damaging	Het
Gm5591	T	C	7: 38,220,058 (GRCm39)	S272G	probably benign	Het
Gm8444	A	T	15: 81,727,845 (GRCm39)		probably benign	Het
Gm9776	A	G	13: 94,495,158 (GRCm39)		probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Larp1b	A	T	3: 40,918,535 (GRCm39)	I59F	probably benign	Het
Ltn1	C	T	16: 87,200,961 (GRCm39)	A1092T	probably benign	Het
Map1b	A	G	13: 99,569,250 (GRCm39)	V1157A	unknown	Het
Mboat1	A	T	13: 30,379,724 (GRCm39)	M92L	probably benign	Het
Meis3	G	T	7: 15,916,378 (GRCm39)	L284F	probably damaging	Het
Muc20	T	C	16: 32,599,403 (GRCm39)	F3317L	probably benign	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Polr1e	C	T	4: 45,018,724 (GRCm39)	T18I	possibly damaging	Het
Ppp4r1	G	T	17: 66,143,074 (GRCm39)	A764S	probably damaging	Het
Psg29	A	G	7: 16,942,727 (GRCm39)	T243A	probably benign	Het
Ptprn2	T	C	12: 116,685,753 (GRCm39)	Y71H	probably damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sh3bp1	C	T	15: 78,795,622 (GRCm39)	P584S	probably benign	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,862,163 (GRCm39)	H35Q	probably damaging	Het
Strn	A	T	17: 78,990,321 (GRCm39)	V65D	probably damaging	Het
Sumf1	T	C	6: 108,130,165 (GRCm39)	N185D	probably benign	Het
Timm29	T	C	9: 21,504,887 (GRCm39)	M185T	probably damaging	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Tubgcp6	A	T	15: 89,006,806 (GRCm39)	M72K	probably damaging	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Zfr	A	G	15: 12,154,593 (GRCm39)	N592S	probably damaging	Het

Other mutations in 5730596B20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
PIT4576001:5730596B20Rik	UTSW	6	52,156,449 (GRCm39)	missense	unknown
R0279:5730596B20Rik	UTSW	6	52,156,182 (GRCm39)	intron	probably benign
R1344:5730596B20Rik	UTSW	6	52,156,131 (GRCm39)	intron	probably benign
R1418:5730596B20Rik	UTSW	6	52,156,131 (GRCm39)	intron	probably benign
R2073:5730596B20Rik	UTSW	6	52,155,962 (GRCm39)	nonsense	probably null
R3055:5730596B20Rik	UTSW	6	52,156,108 (GRCm39)	intron	probably benign
R4235:5730596B20Rik	UTSW	6	52,155,941 (GRCm39)	intron	probably benign
R4369:5730596B20Rik	UTSW	6	52,156,042 (GRCm39)	intron	probably benign
R6057:5730596B20Rik	UTSW	6	52,156,500 (GRCm39)	intron	probably benign
R7082:5730596B20Rik	UTSW	6	52,156,260 (GRCm39)	missense	unknown
R7476:5730596B20Rik	UTSW	6	52,156,014 (GRCm39)	missense	unknown
R7819:5730596B20Rik	UTSW	6	52,156,254 (GRCm39)	intron	probably benign
R8247:5730596B20Rik	UTSW	6	52,155,942 (GRCm39)	missense	unknown
R9080:5730596B20Rik	UTSW	6	52,155,973 (GRCm39)	missense	unknown
R9112:5730596B20Rik	UTSW	6	52,156,413 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGGCAATAGCTCCCTTTC -3'
(R):5'- ATGATGCTTCCAGCCACTTTG -3'

Sequencing Primer
(F):5'- AGCCAGAGAAATGTTGTCTCTGC -3'
(R):5'- GAGGGCATGCCATTGTTT -3'

Posted On

2015-02-05