Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02328:E230025N22Rik'

288580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E230025N22Rik

Ensembl Gene

ENSMUSG00000044719

Gene Name

Riken cDNA E230025N22 gene

Synonyms

EG240216

Accession Numbers

Essential gene?

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

Stock #

IGL02328

Quality Score

Status

Chromosome

Chromosomal Location

36817976-36828978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36828667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4 (S4P)

Ref Sequence

ENSEMBL: ENSMUSP00000111346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115682]

AlphaFold

G5E8S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000115682
AA Change: S4P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719
AA Change: S4P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,726,294 (GRCm39)	N577I	probably damaging	Het
Arhgef1	T	C	7: 24,623,240 (GRCm39)	L667P	probably damaging	Het
Btk	G	A	X: 133,459,449 (GRCm39)	P192L	probably damaging	Het
Col12a1	T	A	9: 79,589,348 (GRCm39)	Y1069F	probably damaging	Het
Dnah7a	C	T	1: 53,564,096 (GRCm39)		probably null	Het
Ei24	A	T	9: 36,696,827 (GRCm39)		probably null	Het
Foxred2	A	G	15: 77,840,032 (GRCm39)	L86P	probably damaging	Het
Gm3127	A	T	14: 15,424,989 (GRCm39)	R42W	probably damaging	Het
Hgf	A	G	5: 16,803,219 (GRCm39)	Y377C	probably damaging	Het
Hpse2	A	T	19: 42,920,038 (GRCm39)	L354I	probably damaging	Het
Hspa4	A	G	11: 53,190,885 (GRCm39)		probably null	Het
Iqcg	T	G	16: 32,839,876 (GRCm39)	I357L	probably benign	Het
Itsn1	T	C	16: 91,612,295 (GRCm39)	L204P	probably damaging	Het
Kalrn	T	C	16: 34,152,594 (GRCm39)	N311S	probably damaging	Het
Lmod2	A	G	6: 24,603,832 (GRCm39)	D269G	probably benign	Het
Med16	A	G	10: 79,743,376 (GRCm39)	S29P	probably damaging	Het
Mex3b	T	C	7: 82,518,920 (GRCm39)	S412P	probably benign	Het
Myo15a	A	G	11: 60,417,433 (GRCm39)	I3443V	probably benign	Het
Naip2	A	T	13: 100,297,877 (GRCm39)	L720I	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Or4z4	T	A	19: 12,076,146 (GRCm39)	I286F	probably damaging	Het
Or52ab4	A	T	7: 102,987,497 (GRCm39)	I79F	probably damaging	Het
Or6c213	T	C	10: 129,573,895 (GRCm39)	D297G	probably benign	Het
Or8b1b	A	T	9: 38,375,972 (GRCm39)	I212F	probably benign	Het
Pan3	A	G	5: 147,466,933 (GRCm39)		probably null	Het
Pitpnm2	T	C	5: 124,259,477 (GRCm39)	Q1286R	probably damaging	Het
Scgb2b24	A	G	7: 33,438,050 (GRCm39)		probably benign	Het
Sh2b3	T	C	5: 121,955,922 (GRCm39)	D520G	probably benign	Het
Skint4	T	A	4: 111,977,255 (GRCm39)	I215N	possibly damaging	Het
Slc24a5	A	G	2: 124,922,559 (GRCm39)	D107G	probably damaging	Het
Slit2	T	C	5: 48,387,646 (GRCm39)	I549T	probably damaging	Het
Stambp	A	G	6: 83,533,363 (GRCm39)	L300P	possibly damaging	Het
Taf2	T	C	15: 54,891,772 (GRCm39)	N1017S	probably benign	Het
Tm9sf2	T	G	14: 122,380,842 (GRCm39)	V145G	possibly damaging	Het
Tor1aip2	G	T	1: 155,940,720 (GRCm39)	C342F	probably damaging	Het
Ubr4	C	T	4: 139,206,233 (GRCm39)	T4823M	probably damaging	Het
Vmn1r80	G	T	7: 11,927,405 (GRCm39)	A172S	probably benign	Het
Vmn2r67	T	A	7: 84,799,898 (GRCm39)	N447Y	probably benign	Het
Zbtb1	A	G	12: 76,433,450 (GRCm39)	N479D	possibly damaging	Het

Other mutations in E230025N22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16