Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00937:E130308A19Rik'

27262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL00937

Quality Score

Status

Chromosome

Chromosomal Location

59626211-59761439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59690846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 227 (A227T)

Ref Sequence

ENSEMBL: ENSMUSP00000065702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052420] [ENSMUST00000070150]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052420
AA Change: A227T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: A227T

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:DUF3504	520	673	2.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070150
AA Change: A227T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
AA Change: A227T

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152797

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d2a	A	T	5: 43,688,122		probably null	Het
Cd34	A	G	1: 194,960,114	E381G	probably damaging	Het
Chka	A	G	19: 3,892,189	E381G	probably benign	Het
Dennd1b	T	A	1: 139,170,239	C673S	probably benign	Het
F13b	T	A	1: 139,517,360		probably benign	Het
Hipk3	T	C	2: 104,433,172	N933D	possibly damaging	Het
Mmp27	T	C	9: 7,578,899		probably benign	Het
Nod1	C	T	6: 54,937,364	V815I	probably benign	Het
Olfr411	C	T	11: 74,347,429	V52I	probably benign	Het
Olfr448	T	A	6: 42,896,634	F61Y	probably damaging	Het
Olfr552	T	A	7: 102,604,357	M1K	probably null	Het
Olfr555	T	A	7: 102,659,348	S176T	probably damaging	Het
Olfr613	C	A	7: 103,551,857	A24E	probably damaging	Het
Olfr697	T	A	7: 106,741,157	Y259F	probably damaging	Het
Pms1	T	A	1: 53,275,251	E45V	possibly damaging	Het
Prkcsh	T	C	9: 22,006,565	S126P	possibly damaging	Het
Pros1	A	T	16: 62,910,045	L299F	probably damaging	Het
Scrn1	A	G	6: 54,520,733	I291T	probably benign	Het
Slc15a2	A	T	16: 36,751,880	Y676*	probably null	Het
Tenm2	A	C	11: 36,024,623	V2028G	probably damaging	Het
Trpa1	T	C	1: 14,880,277		probably benign	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:E130308A19Rik	APN	4	59737743	splice site	probably benign
IGL00672:E130308A19Rik	APN	4	59719697	missense	probably benign	0.00
IGL01885:E130308A19Rik	APN	4	59720004	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59719676	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59691033	missense	possibly damaging	0.70
R0044:E130308A19Rik	UTSW	4	59690290	missense	possibly damaging	0.86
R0523:E130308A19Rik	UTSW	4	59719716	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59719847	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59690743	missense	probably benign	0.37
R1490:E130308A19Rik	UTSW	4	59719746	missense	probably damaging	0.99
R2292:E130308A19Rik	UTSW	4	59690579	missense	probably damaging	0.99
R3907:E130308A19Rik	UTSW	4	59752393	missense	probably benign	0.14
R4288:E130308A19Rik	UTSW	4	59690308	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59691057	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59691057	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59690317	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59691017	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59737565	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59691332	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59691132	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59720561	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59752288	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59719991	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59719991	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59737688	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59753004	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59690333	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59690502	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59752770	missense	probably damaging	0.99
R7916:E130308A19Rik	UTSW	4	59719841	missense	probably damaging	1.00
R8050:E130308A19Rik	UTSW	4	59719767	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59720526	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59737676	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59737594	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59719764	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59720313	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59720223	missense	probably benign

Posted On

2013-04-17