Mutagenetix > Incidental Mutation

Incidental Mutation 'R1239:E230025N22Rik'

151903

Institutional Source

Beutler Lab

Gene Symbol

E230025N22Rik

Ensembl Gene

ENSMUSG00000044719

Gene Name

Riken cDNA E230025N22 gene

Synonyms

EG240216

MMRRC Submission

039306-MU

Accession Numbers

Essential gene?

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

Stock #

R1239 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

36817976-36828978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36818528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 434 (I434V)

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

probably damaging
Transcript: ENSMUST00000115682
AA Change: I434V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719
AA Change: I434V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Adcy8	G	T	15: 64,587,911 (GRCm39)	R959S	probably damaging	Het
Ank1	A	G	8: 23,586,171 (GRCm39)	N455D	probably damaging	Het
Ankrd17	T	C	5: 90,436,535 (GRCm39)	T589A	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Celsr1	G	T	15: 85,863,347 (GRCm39)	N1228K	probably damaging	Het
Ces4a	T	C	8: 105,876,130 (GRCm39)	L557P	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Clba1	A	G	12: 112,773,123 (GRCm39)	R39G	probably benign	Het
Col27a1	T	C	4: 63,237,152 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,527,415 (GRCm39)	A100S	probably damaging	Het
Cpsf6	G	A	10: 117,197,248 (GRCm39)		probably benign	Het
Cyp1a2	A	G	9: 57,589,050 (GRCm39)	F255L	probably benign	Het
Dnajc6	T	C	4: 101,492,313 (GRCm39)	Y783H	probably damaging	Het
Ermap	T	C	4: 119,046,122 (GRCm39)	K3E	probably benign	Het
Gatd3a	A	G	10: 78,004,761 (GRCm39)		probably benign	Het
Gstm2	G	A	3: 107,891,344 (GRCm39)	L125F	possibly damaging	Het
Hk2	C	T	6: 82,726,289 (GRCm39)	G58R	probably damaging	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Matcap2	GTTCTTC	GTTC	9: 22,335,995 (GRCm39)		probably benign	Het
Mgmt	T	C	7: 136,729,786 (GRCm39)	F200S	probably benign	Het
Mug2	T	G	6: 122,058,637 (GRCm39)		probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or5an11	G	T	19: 12,246,340 (GRCm39)	V249F	probably damaging	Het
Or5b109	G	A	19: 13,212,040 (GRCm39)	C142Y	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Phc3	A	G	3: 30,968,279 (GRCm39)	V886A	probably damaging	Het
Plcg2	T	A	8: 118,282,783 (GRCm39)	V88D	probably benign	Het
Podxl2	C	T	6: 88,826,965 (GRCm39)	V50I	probably benign	Het
Rap1gap	G	T	4: 137,445,307 (GRCm39)	M329I	probably damaging	Het
Rbm5	A	G	9: 107,630,165 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,821,430 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,897,929 (GRCm39)		probably null	Het
Skida1	A	C	2: 18,052,128 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,243,781 (GRCm39)	F2024L	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Vmn1r16	C	T	6: 57,300,618 (GRCm39)	M1I	probably null	Het
Zbtb39	G	T	10: 127,578,938 (GRCm39)	G504V	probably damaging	Het
Zfp1004	T	C	2: 150,033,891 (GRCm39)	Y71H	possibly damaging	Het
Zfp106	A	T	2: 120,364,075 (GRCm39)	N777K	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
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
R5679:E230025N22Rik	UTSW	18	36,818,435 (GRCm39)	missense	possibly damaging	0.77
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'- TCTCTGAATGAGGGTCAAATGGCAC -3'
(R):5'- ACAAAGGGCAGACCTTAAGTTGGTG -3'

Sequencing Primer
(F):5'- CTGTAATGAAAGCCATCTTGGTC -3'
(R):5'- TATTCCAAGCATGGCAGAGG -3'

Posted On

2014-01-29