Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:4933416C03Rik'

49377

Institutional Source

Beutler Lab

Gene Symbol

4933416C03Rik

Ensembl Gene

ENSMUSG00000074734

Gene Name

RIKEN cDNA 4933416C03 gene

Synonyms

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0534 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

116111664-116113917 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116112802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 273 (E273G)

Ref Sequence

ENSEMBL: ENSMUSP00000096867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000099261]

AlphaFold

Q3V063

Predicted Effect

probably benign
Transcript: ENSMUST00000063470

SMART Domains

Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
PTPc	391	648	3.74e-108	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099261
AA Change: E273G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: E273G

Domain	Start	End	E-Value	Type
TAFII55_N	12	190	2.27e-88	SMART
coiled coil region	241	344	N/A	INTRINSIC
low complexity region	351	361	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220165

Meta Mutation Damage Score

0.1058

Coding Region Coverage

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

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	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 4933416C03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:4933416C03Rik	APN	10	116113026	missense	probably benign	0.13
IGL00942:4933416C03Rik	APN	10	116113436	missense	possibly damaging	0.91
R0325:4933416C03Rik	UTSW	10	116113569	missense	probably damaging	1.00
R0467:4933416C03Rik	UTSW	10	116113153	missense	probably benign	0.00
R1068:4933416C03Rik	UTSW	10	116113454	missense	probably damaging	0.97
R1102:4933416C03Rik	UTSW	10	116113394	missense	probably damaging	1.00
R1421:4933416C03Rik	UTSW	10	116113438	missense	probably damaging	1.00
R1601:4933416C03Rik	UTSW	10	116113616	missense	probably damaging	0.99
R1834:4933416C03Rik	UTSW	10	116112665	missense	probably benign	0.15
R3930:4933416C03Rik	UTSW	10	116112635	missense	possibly damaging	0.71
R5799:4933416C03Rik	UTSW	10	116112769	missense	probably damaging	1.00
R5908:4933416C03Rik	UTSW	10	116113228	missense	probably benign	0.04
R7765:4933416C03Rik	UTSW	10	116113253	nonsense	probably null
R8420:4933416C03Rik	UTSW	10	116112535	missense	probably benign
R9214:4933416C03Rik	UTSW	10	116112998	missense	probably benign	0.05
R9430:4933416C03Rik	UTSW	10	116113377	missense	probably damaging	1.00
R9583:4933416C03Rik	UTSW	10	116113026	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACTGTCGCCCTTTCTTAAGTACAGC -3'
(R):5'- GTCAAACCTGCACTTCACACGTTC -3'

Sequencing Primer
(F):5'- TTGAGCTGATCTAGCACAGACTG -3'
(R):5'- TCCGTTGCCCCCTGAAG -3'

Posted On

2013-06-12