Mutagenetix > Incidental Mutations

Incidental Mutation 'R2299:4933434E20Rik'

245256

Institutional Source

Beutler Lab

Gene Symbol

4933434E20Rik

Ensembl Gene

ENSMUSG00000027942

Gene Name

RIKEN cDNA 4933434E20 gene

Synonyms

MMRRC Submission

040298-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90051636-90068347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90064538 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 68 (N68S)

Ref Sequence

ENSEMBL: ENSMUSP00000029551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029551] [ENSMUST00000068798] [ENSMUST00000159064] [ENSMUST00000160640] [ENSMUST00000161918] [ENSMUST00000162114]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029551
AA Change: N68S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029551
Gene: ENSMUSG00000027942
AA Change: N68S

Domain	Start	End	E-Value	Type
Pfam:DUF4558	20	105	1.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068798

SMART Domains

Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	171	2.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159064

SMART Domains

Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	6	188	4.2e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160640

SMART Domains

Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	189	3.2e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161918

SMART Domains

Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	64	2.2e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162114

SMART Domains

Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	189	1.4e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162390

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	G	X: 89,932,399	M64T	possibly damaging	Het
5031439G07Rik	A	C	15: 84,953,285	F276V	possibly damaging	Het
Abca12	C	T	1: 71,258,222	V2370I	probably damaging	Het
Acsl3	T	G	1: 78,699,110	C469W	probably damaging	Het
Adgrg5	A	T	8: 94,938,576	I372F	possibly damaging	Het
Ankrd42	A	G	7: 92,590,254	I442T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bmpr1b	C	A	3: 141,845,202	R376L	probably damaging	Het
C1qtnf6	T	A	15: 78,525,342	T102S	probably benign	Het
Chordc1	T	C	9: 18,302,108	L85P	probably damaging	Het
Clec2j	T	A	6: 128,655,236		noncoding transcript	Het
Copa	T	C	1: 172,121,725	I1223T	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cyfip2	T	A	11: 46,286,131	E74V	probably benign	Het
Dsg1a	A	T	18: 20,340,150	D760V	probably damaging	Het
Folr1	A	G	7: 101,863,992	L32P	probably damaging	Het
Galnt13	A	T	2: 55,060,583	R425S	possibly damaging	Het
Gm4559	A	T	7: 142,273,835	C177S	unknown	Het
H3f3a	C	T	1: 180,803,138	R117H	probably benign	Het
Hist1h2bh	A	G	13: 23,543,184	S57P	probably damaging	Het
Kansl1l	T	C	1: 66,773,477	D459G	probably damaging	Het
Limd1	A	T	9: 123,516,877	K574*	probably null	Het
Mmrn1	A	G	6: 60,976,441	K569E	probably damaging	Het
Olfr583	T	C	7: 103,051,582	W95R	probably damaging	Het
Ppwd1	T	C	13: 104,220,063	M315V	probably benign	Het
Prss21	A	G	17: 23,869,589	E176G	probably benign	Het
Ptpn23	A	G	9: 110,392,513	I173T	possibly damaging	Het
Rit1	T	A	3: 88,726,070		probably null	Het
Rnf14	C	T	18: 38,308,085	A176V	probably benign	Het
Sema5a	T	A	15: 32,562,776	V311E	possibly damaging	Het
Slc28a2	C	T	2: 122,441,778	Q34*	probably null	Het
Spire1	A	C	18: 67,530,423	L36R	probably damaging	Het
Usp33	T	A	3: 152,374,621	V463E	probably damaging	Het
Vcpip1	A	G	1: 9,745,719	L813S	possibly damaging	Het
Vmn1r174	A	T	7: 23,754,004	I32F	probably benign	Het
Zbtb24	G	A	10: 41,464,581	V536M	probably damaging	Het

Other mutations in 4933434E20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:4933434E20Rik	APN	3	90053093	missense	possibly damaging	0.65
IGL01621:4933434E20Rik	APN	3	90064502	missense	possibly damaging	0.82
IGL01984:4933434E20Rik	APN	3	90063230	missense	probably benign	0.00
IGL02005:4933434E20Rik	APN	3	90058620	missense	probably damaging	1.00
R0446:4933434E20Rik	UTSW	3	90064459	missense	probably benign	0.00
R1717:4933434E20Rik	UTSW	3	90056237	missense	probably benign	0.23
R1816:4933434E20Rik	UTSW	3	90053091	missense	possibly damaging	0.89
R2170:4933434E20Rik	UTSW	3	90056304	missense	probably benign	0.07
R2981:4933434E20Rik	UTSW	3	90058631	missense	probably benign	0.00
R3879:4933434E20Rik	UTSW	3	90063254	unclassified	probably benign
R4065:4933434E20Rik	UTSW	3	90058766	nonsense	probably null
R4724:4933434E20Rik	UTSW	3	90053541	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	90053542	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	90053583	missense	probably damaging	0.99
R4835:4933434E20Rik	UTSW	3	90063209	missense	probably benign	0.22
R5076:4933434E20Rik	UTSW	3	90056252	missense	probably benign	0.01
R6126:4933434E20Rik	UTSW	3	90056574	missense	probably damaging	0.98
R6337:4933434E20Rik	UTSW	3	90061733	missense	probably benign	0.03
R6562:4933434E20Rik	UTSW	3	90063236	missense	probably benign	0.38
R7312:4933434E20Rik	UTSW	3	90061714	missense	probably benign	0.07
R7316:4933434E20Rik	UTSW	3	90061713	missense	probably benign
R7473:4933434E20Rik	UTSW	3	90058653	critical splice donor site	probably null
R7990:4933434E20Rik	UTSW	3	90063242	missense	probably damaging	0.98
R8125:4933434E20Rik	UTSW	3	90065511	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACCTGCATCTGACTCTATTCATGG -3'
(R):5'- CTCAGAGGCAAATGATATGGTTAAGTC -3'

Sequencing Primer
(F):5'- GTCAGTTCAAAGCAGCGGATCC -3'
(R):5'- GCAAATGATATGGTTAAGTCGAGAG -3'

Posted On

2014-10-30