Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:4933425L06Rik'

49385

Institutional Source

Beutler Lab

Gene Symbol

4933425L06Rik

Ensembl Gene

ENSMUSG00000021718

Gene Name

RIKEN cDNA 4933425L06 gene

Synonyms

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105082122-105121782 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 105082254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 32 (S32*)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022232]

AlphaFold

Q9D3Z8

Predicted Effect

probably null
Transcript: ENSMUST00000022232
AA Change: S32*

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: S32*

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Metallophos	40	245	4.8e-12	PFAM
Pfam:5_nucleotid_C	314	472	4.1e-42	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in 4933425L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:4933425L06Rik	APN	13	105118684	missense	probably damaging	1.00
IGL01099:4933425L06Rik	APN	13	105109360	missense	probably benign	0.00
IGL01540:4933425L06Rik	APN	13	105082253	missense	possibly damaging	0.47
IGL01968:4933425L06Rik	APN	13	105119830	missense	probably damaging	0.98
IGL02364:4933425L06Rik	APN	13	105082300	missense	probably damaging	1.00
IGL02447:4933425L06Rik	APN	13	105100459	missense	probably damaging	0.99
R1486:4933425L06Rik	UTSW	13	105109783	missense	probably benign	0.26
R1543:4933425L06Rik	UTSW	13	105112369	nonsense	probably null
R1544:4933425L06Rik	UTSW	13	105109621	missense	probably benign	0.00
R1631:4933425L06Rik	UTSW	13	105082241	missense	probably benign
R1807:4933425L06Rik	UTSW	13	105082236	missense	probably benign
R1835:4933425L06Rik	UTSW	13	105082194	missense	unknown
R2427:4933425L06Rik	UTSW	13	105109761	missense	probably benign	0.03
R2504:4933425L06Rik	UTSW	13	105109742	missense	probably benign	0.09
R4353:4933425L06Rik	UTSW	13	105118745	missense	probably benign	0.14
R4949:4933425L06Rik	UTSW	13	105109706	missense	probably damaging	1.00
R6242:4933425L06Rik	UTSW	13	105109540	missense	probably benign	0.00
R6376:4933425L06Rik	UTSW	13	105119965	missense	possibly damaging	0.95
R6615:4933425L06Rik	UTSW	13	105112485	missense	probably damaging	1.00
R7610:4933425L06Rik	UTSW	13	105111187	missense	probably damaging	1.00
R7773:4933425L06Rik	UTSW	13	105082285	missense	probably damaging	1.00
R7985:4933425L06Rik	UTSW	13	105119974	missense	probably benign	0.22
R8171:4933425L06Rik	UTSW	13	105109783	missense	probably benign	0.26
R8429:4933425L06Rik	UTSW	13	105118788	missense	probably damaging	1.00
R9339:4933425L06Rik	UTSW	13	105109606	missense	probably benign	0.00
R9497:4933425L06Rik	UTSW	13	105100479	missense	probably damaging	0.97
X0024:4933425L06Rik	UTSW	13	105112511	missense	probably damaging	0.99
X0057:4933425L06Rik	UTSW	13	105082251	missense	probably benign
Z1176:4933425L06Rik	UTSW	13	105111144	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGGCACAGTCAGGAAAGCAC -3'
(R):5'- ACCGGAGTTACTACCCAAGTCCAG -3'

Sequencing Primer
(F):5'- ATGCTCTGGCTGCCATC -3'
(R):5'- TAACACAGATGACTCCCTGCTTG -3'

Posted On

2013-06-12