Mutagenetix > Incidental Mutation

Incidental Mutation 'R5679:E230025N22Rik'

442949

Institutional Source

Beutler Lab

Gene Symbol

E230025N22Rik

Ensembl Gene

ENSMUSG00000044719

Gene Name

Riken cDNA E230025N22 gene

Synonyms

EG240216

MMRRC Submission

043176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36817976-36828978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36818435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 465 (G465R)

Ref Sequence

ENSEMBL: ENSMUSP00000111346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036158] [ENSMUST00000050476] [ENSMUST00000115682] [ENSMUST00000185899] [ENSMUST00000186538]

AlphaFold

G5E8S3

Predicted Effect

probably benign
Transcript: ENSMUST00000036158

SMART Domains

Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	36	321	6.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050476

SMART Domains

Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115682
AA Change: G465R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719
AA Change: G465R

Domain	Start	End	E-Value	Type
Blast:KISc	1	105	2e-10	BLAST
SCOP:d1bg2__	1	105	3e-9	SMART
low complexity region	120	130	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
coiled coil region	354	385	N/A	INTRINSIC
coiled coil region	433	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170288

Predicted Effect

probably benign
Transcript: ENSMUST00000185899

SMART Domains

Protein: ENSMUSP00000140201
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:DUF4535	63	101	3.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186538

SMART Domains

Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	G	A	11: 61,107,994 (GRCm39)	R346Q	probably benign	Het
Bcat1	A	T	6: 144,953,474 (GRCm39)	F304L	probably damaging	Het
Ccdc178	T	G	18: 22,200,486 (GRCm39)	K439N	probably benign	Het
Cdkn2a	T	C	4: 89,195,098 (GRCm39)	D84G	possibly damaging	Het
Chst8	T	A	7: 34,374,729 (GRCm39)	H370L	probably damaging	Het
Dimt1	A	G	13: 107,084,108 (GRCm39)	T32A	possibly damaging	Het
Dph6	T	C	2: 114,398,422 (GRCm39)	I162V	probably benign	Het
Fam3d	T	C	14: 8,349,305 (GRCm38)	E215G	probably damaging	Het
Fbxw7	T	A	3: 84,884,794 (GRCm39)	N612K	probably damaging	Het
Gpr179	A	G	11: 97,227,571 (GRCm39)	V1528A	probably benign	Het
Gucy2g	T	A	19: 55,219,511 (GRCm39)	K370N	possibly damaging	Het
Ipo13	A	T	4: 117,752,029 (GRCm39)	W903R	probably damaging	Het
Itgax	T	A	7: 127,734,162 (GRCm39)	H311Q	probably benign	Het
Kmt2d	T	C	15: 98,752,153 (GRCm39)		probably benign	Het
Lox	T	C	18: 52,661,989 (GRCm39)	N138S	probably benign	Het
Mre11a	T	A	9: 14,698,215 (GRCm39)	I21N	probably damaging	Het
Ncan	T	G	8: 70,565,276 (GRCm39)	Y217S	probably damaging	Het
Nfil3	A	G	13: 53,122,527 (GRCm39)	F126L	possibly damaging	Het
Nfu1	T	C	6: 86,996,379 (GRCm39)	V110A	probably damaging	Het
Or12e8	T	C	2: 87,187,889 (GRCm39)	F34L	possibly damaging	Het
Or5e1	A	G	7: 108,354,203 (GRCm39)	I47V	probably damaging	Het
Or5g9	A	T	2: 85,552,390 (GRCm39)	I214F	probably damaging	Het
Palld	T	C	8: 62,137,979 (GRCm39)	Q592R	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,530 (GRCm39)	L781Q	probably damaging	Het
Rcl1	A	G	19: 29,098,658 (GRCm39)		probably null	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Scrt1	T	A	15: 76,403,262 (GRCm39)	T243S	unknown	Het
Slc22a30	G	T	19: 8,313,135 (GRCm39)	T550K	possibly damaging	Het
Strc	A	G	2: 121,198,581 (GRCm39)	S1437P	probably benign	Het
Tecpr1	T	A	5: 144,144,241 (GRCm39)	I654F	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,377 (GRCm39)	M371V	probably benign	Het
Vmn2r11	T	C	5: 109,202,708 (GRCm39)	N123S	probably benign	Het
Wdr81	T	C	11: 75,343,749 (GRCm39)	D506G	probably damaging	Het
Xylt1	A	G	7: 117,242,877 (GRCm39)	D640G	probably damaging	Het
Zfp148	T	G	16: 33,316,156 (GRCm39)	M276R	probably damaging	Het
Zfp329	G	A	7: 12,543,958 (GRCm39)	T522I	probably damaging	Het

Other mutations in E230025N22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02328:E230025N22Rik	APN	18	36,828,667 (GRCm39)	missense	probably damaging	1.00
IGL02721:E230025N22Rik	APN	18	36,828,664 (GRCm39)	missense	probably damaging	1.00
R0092:E230025N22Rik	UTSW	18	36,822,277 (GRCm39)	missense	probably damaging	1.00
R0538:E230025N22Rik	UTSW	18	36,821,987 (GRCm39)	missense	probably benign
R1239:E230025N22Rik	UTSW	18	36,818,528 (GRCm39)	missense	probably damaging	0.99
R1442:E230025N22Rik	UTSW	18	36,824,462 (GRCm39)	splice site	probably null
R3929:E230025N22Rik	UTSW	18	36,824,625 (GRCm39)	missense	probably damaging	1.00
R5997:E230025N22Rik	UTSW	18	36,822,161 (GRCm39)	missense	possibly damaging	0.94
R6394:E230025N22Rik	UTSW	18	36,819,839 (GRCm39)	missense	probably damaging	1.00
R7570:E230025N22Rik	UTSW	18	36,828,645 (GRCm39)	missense	probably benign	0.45
R7914:E230025N22Rik	UTSW	18	36,828,605 (GRCm39)	missense	possibly damaging	0.77
R9025:E230025N22Rik	UTSW	18	36,819,890 (GRCm39)	missense	probably damaging	1.00
R9093:E230025N22Rik	UTSW	18	36,821,952 (GRCm39)	missense	possibly damaging	0.95
R9567:E230025N22Rik	UTSW	18	36,820,336 (GRCm39)	missense
Z1176:E230025N22Rik	UTSW	18	36,828,877 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGAATGAGGGTCAAATGGCAC -3'
(R):5'- TGCATGCAGGTATTCCAAGC -3'

Sequencing Primer
(F):5'- CCATCTAGGTATTGGGCACTTAGC -3'
(R):5'- CCAAGCATGGCAGAGGATGTG -3'

Posted On

2016-11-09