Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02721:E230025N22Rik'

305029

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 #

IGL02721

Quality Score

Status

Chromosome

Chromosomal Location

36817976-36828978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36828664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 5 (V5M)

Ref Sequence

ENSEMBL: ENSMUSP00000111346 (fasta)

Gene Model

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

AlphaFold

G5E8S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000115682
AA Change: V5M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719
AA Change: V5M

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,888,124 (GRCm39)	I398L	probably benign	Het
4931414P19Rik	A	G	14: 54,823,202 (GRCm39)	S332P	probably damaging	Het
Abca7	T	C	10: 79,849,469 (GRCm39)	S1877P	possibly damaging	Het
Adora2b	G	T	11: 62,155,931 (GRCm39)	A127S	probably damaging	Het
Ahnak	A	G	19: 8,987,071 (GRCm39)	K2785R	probably benign	Het
Anapc2	G	A	2: 25,164,680 (GRCm39)	W21*	probably null	Het
Atp7b	A	G	8: 22,512,493 (GRCm39)	S457P	probably benign	Het
Catsperb	A	G	12: 101,591,556 (GRCm39)	Q1046R	probably null	Het
Comp	A	T	8: 70,828,731 (GRCm39)	N188Y	probably damaging	Het
Crnkl1	A	T	2: 145,765,801 (GRCm39)	I423K	possibly damaging	Het
Crtap	A	T	9: 114,210,707 (GRCm39)	V289E	probably damaging	Het
Ctnna2	T	C	6: 76,958,852 (GRCm39)	N454S	probably damaging	Het
Dnah5	A	T	15: 28,234,389 (GRCm39)		probably null	Het
Dstyk	T	G	1: 132,377,054 (GRCm39)	V220G	probably benign	Het
Fam111a	T	G	19: 12,564,336 (GRCm39)	N28K	probably benign	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Fgb	A	C	3: 82,950,674 (GRCm39)	V360G	possibly damaging	Het
Gm3404	A	T	5: 146,463,738 (GRCm39)	R128*	probably null	Het
Hal	G	T	10: 93,343,360 (GRCm39)	G535*	probably null	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Igsf5	T	A	16: 96,192,222 (GRCm39)	S274T	probably damaging	Het
Kdm7a	C	T	6: 39,150,371 (GRCm39)	A134T	possibly damaging	Het
Klhl25	G	T	7: 75,516,648 (GRCm39)	W518L	probably damaging	Het
Map1a	A	T	2: 121,134,518 (GRCm39)	D1778V	probably benign	Het
Nif3l1	A	G	1: 58,497,008 (GRCm39)	D311G	probably damaging	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup54	A	T	5: 92,565,716 (GRCm39)	I406N	possibly damaging	Het
Or10ab5	G	T	7: 108,245,582 (GRCm39)	S67*	probably null	Het
Or2y1d	T	A	11: 49,321,468 (GRCm39)	L55*	probably null	Het
Or6c210	C	T	10: 129,495,824 (GRCm39)	P50S	probably benign	Het
Or6c211	A	T	10: 129,505,992 (GRCm39)	I132N	probably benign	Het
Pcdhb18	T	A	18: 37,623,084 (GRCm39)	M138K	probably benign	Het
Pik3c2g	A	G	6: 139,682,699 (GRCm39)	T27A	probably benign	Het
Plekhb2	A	G	1: 34,908,445 (GRCm39)	N163S	probably benign	Het
Ros1	G	A	10: 52,048,927 (GRCm39)		probably benign	Het
Sh3gl1	A	G	17: 56,324,577 (GRCm39)	L357P	possibly damaging	Het
Skint5	T	A	4: 113,799,746 (GRCm39)	D141V	probably damaging	Het
Slc10a5	A	G	3: 10,399,595 (GRCm39)	V355A	probably benign	Het
Speer1c	T	C	5: 10,293,883 (GRCm39)	K106E	probably damaging	Het
Ssh2	G	T	11: 77,345,551 (GRCm39)	G1179*	probably null	Het
Syde2	A	G	3: 145,707,759 (GRCm39)	N566S	probably damaging	Het
Sytl1	T	C	4: 132,986,189 (GRCm39)	R149G	probably benign	Het
Tnpo2	A	G	8: 85,781,319 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,409,236 (GRCm38)	L793P	probably damaging	Het
U2surp	T	A	9: 95,356,488 (GRCm39)	E789D	probably benign	Het
Vps13c	G	A	9: 67,871,431 (GRCm39)		probably benign	Het
Zbtb34	C	T	2: 33,301,270 (GRCm39)	G424R	probably damaging	Het
Zfhx4	A	G	3: 5,308,367 (GRCm39)	D531G	possibly damaging	Het
Zfp787	C	T	7: 6,135,463 (GRCm39)		probably null	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
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