Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01885:E130308A19Rik'

179112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL01885

Quality Score

Status

Chromosome

Chromosomal Location

59626211-59761439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59720004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 512 (N512S)

Ref Sequence

ENSEMBL: ENSMUSP00000062493 (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: N512S

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: N512S

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

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	C	8: 111,047,943	V568A	possibly damaging	Het
Abcb11	T	A	2: 69,287,627	Q469L	probably damaging	Het
Ahsg	G	A	16: 22,898,981	G264E	probably damaging	Het
Ankar	T	C	1: 72,658,703	Y788C	probably damaging	Het
Birc6	T	A	17: 74,604,516	F1508I	possibly damaging	Het
Cd6	C	A	19: 10,799,237	Q141H	probably benign	Het
Cercam	A	C	2: 29,881,003	T471P	probably damaging	Het
Cux1	T	C	5: 136,308,447	D729G	possibly damaging	Het
Dglucy	T	A	12: 100,850,281	F394Y	probably damaging	Het
Ephb4	T	C	5: 137,357,797	C223R	probably damaging	Het
Gcn1l1	T	A	5: 115,576,115		probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hirip3	T	A	7: 126,864,209	S446T	probably benign	Het
Hoxa5	A	T	6: 52,202,667	F243I	probably damaging	Het
Iars	T	C	13: 49,691,499	V162A	probably benign	Het
Lama2	G	A	10: 27,105,139	R1840*	probably null	Het
Lbp	T	A	2: 158,324,573	L349Q	probably damaging	Het
Lrp4	T	C	2: 91,501,107	I1604T	probably benign	Het
Mapk10	T	C	5: 102,996,589	K121E	probably damaging	Het
Nav3	T	A	10: 109,742,660	R1579*	probably null	Het
Obscn	T	C	11: 59,074,968	D652G	possibly damaging	Het
Olfr1472	G	A	19: 13,454,085	T144I	probably benign	Het
Olfr417	A	G	1: 174,369,401	I161M	probably damaging	Het
Olfr849	A	G	9: 19,441,464	I184V	probably benign	Het
Ostm1	C	T	10: 42,698,151	S280L	possibly damaging	Het
Peak1	C	T	9: 56,260,104	R180K	probably damaging	Het
Plcz1	T	C	6: 140,002,111	Y515C	probably benign	Het
Postn	T	C	3: 54,376,034		probably benign	Het
Ptchd4	C	T	17: 42,503,602	T798I	probably damaging	Het
Rnf41	A	T	10: 128,435,475	N85Y	probably damaging	Het
Shisa7	A	T	7: 4,830,826	H323Q	probably damaging	Het
Slco2a1	T	A	9: 103,074,430	M386K	probably damaging	Het
St18	G	A	1: 6,844,372		probably null	Het
Stra6	T	A	9: 58,141,148	L175M	probably damaging	Het
Tmem67	A	G	4: 12,057,389	L600P	probably damaging	Het
Try5	G	T	6: 41,311,738	N182K	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Xpo7	G	A	14: 70,666,035	T1078I	probably benign	Het
Zan	G	A	5: 137,464,124	T931I	unknown	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
IGL00937:E130308A19Rik	APN	4	59690846	missense	probably benign	0.01
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

2014-05-07