Mutagenetix > Incidental Mutation

Incidental Mutation 'R4235:5730596B20Rik'

321064

Institutional Source

Beutler Lab

Gene Symbol

5730596B20Rik

Ensembl Gene

ENSMUSG00000056468

Gene Name

RIKEN cDNA 5730596B20 gene

Synonyms

MMRRC Submission

041052-MU

Accession Numbers

Essential gene?

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

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52154135-52157831 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 52155941 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: L2F

SMART Domains

Protein: ENSMUSP00000069583
Gene: ENSMUSG00000056468
AA Change: L2F

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

noncoding transcript
Transcript: ENSMUST00000133723

Predicted Effect

probably benign
Transcript: ENSMUST00000134831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191326

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,211,751 (GRCm39)	V231A	probably damaging	Het
Bod1l	A	G	5: 41,978,798 (GRCm39)	S839P	probably damaging	Het
Casp8	T	A	1: 58,872,857 (GRCm39)	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,482,549 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,751,057 (GRCm39)		probably benign	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,859,704 (GRCm39)	L774*	probably null	Het
Fbxl2	T	A	9: 113,818,231 (GRCm39)	N205I	probably benign	Het
Fcgbpl1	T	A	7: 27,856,073 (GRCm39)	D1953E	probably damaging	Het
Fkbp15	A	T	4: 62,254,693 (GRCm39)	I269K	probably benign	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Has1	G	T	17: 18,070,298 (GRCm39)	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,491,724 (GRCm39)	A423P	probably benign	Het
Hspa12b	T	C	2: 130,980,932 (GRCm39)	V162A	probably benign	Het
Ifi208	T	G	1: 173,510,477 (GRCm39)	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,355,494 (GRCm39)	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,027,317 (GRCm39)	D77V	probably benign	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,372,549 (GRCm39)	I932T	probably damaging	Het
Krt17	T	C	11: 100,148,694 (GRCm39)	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,217,192 (GRCm39)	V67A	possibly damaging	Het
Limk1	T	C	5: 134,699,332 (GRCm39)	I142V	probably benign	Het
Mamdc2	T	C	19: 23,351,381 (GRCm39)	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,256,017 (GRCm39)		probably null	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mfsd10	G	T	5: 34,792,969 (GRCm39)	T44N	probably damaging	Het
Mrps27	T	C	13: 99,541,549 (GRCm39)	S218P	probably damaging	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Neil2	A	C	14: 63,429,290 (GRCm39)	M1R	probably null	Het
Nelfcd	T	C	2: 174,268,841 (GRCm39)	F587L	probably damaging	Het
Nfil3	T	C	13: 53,122,835 (GRCm39)	D23G	probably benign	Het
Nit2	T	C	16: 56,977,523 (GRCm39)	K169R	probably benign	Het
Nxt1	T	C	2: 148,517,267 (GRCm39)	S3P	probably benign	Het
Ogt	A	G	X: 100,711,131 (GRCm39)	N434D	probably damaging	Het
Or56a3	T	A	7: 104,734,994 (GRCm39)	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Pramel25	G	C	4: 143,521,344 (GRCm39)	C320S	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,325,226 (GRCm39)		probably null	Het
Sobp	G	A	10: 42,898,896 (GRCm39)	H230Y	probably damaging	Het
Sptan1	A	G	2: 29,916,600 (GRCm39)	E2096G	probably damaging	Het
Tie1	G	T	4: 118,335,602 (GRCm39)	S797*	probably null	Het
Tmem266	T	C	9: 55,325,391 (GRCm39)	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710 (GRCm39)	C66R	probably damaging	Het
Tnfaip6	T	C	2: 51,940,876 (GRCm39)	F139S	probably damaging	Het
Tnrc6a	T	C	7: 122,770,903 (GRCm39)	S898P	probably benign	Het
Trim24	A	G	6: 37,941,675 (GRCm39)	D911G	probably damaging	Het
Tyw5	T	C	1: 57,427,647 (GRCm39)		probably benign	Het
Ubr3	C	T	2: 69,846,729 (GRCm39)	Q1651*	probably null	Het
Unc13c	T	A	9: 73,438,234 (GRCm39)	I1943F	possibly damaging	Het
Usp47	T	A	7: 111,709,255 (GRCm39)	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,260,101 (GRCm39)	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,639,624 (GRCm39)	M67K	possibly damaging	Het
Wdfy3	T	A	5: 102,070,500 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,254,704 (GRCm39)	Y1433H	probably benign	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
R3054:5730596B20Rik	UTSW	6	52,156,108 (GRCm39)	intron	probably benign
R3055:5730596B20Rik	UTSW	6	52,156,108 (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'- TCTGCTTCAAGGAGCAAAGTAAAG -3'
(R):5'- GCATGCCATTGTTTCCAGAGC -3'

Sequencing Primer
(F):5'- GACTAATTTCTTTCACCTTTCCAAAG -3'
(R):5'- GCCATTGTTTCCAGAGCAATAGC -3'

Posted On

2015-06-12