Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:2010300C02Rik'

284326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2010300C02Rik

Ensembl Gene

ENSMUSG00000026090

Gene Name

RIKEN cDNA 2010300C02 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

37611677-37720085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37625378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 480 (P480S)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162875]

AlphaFold

E9Q3M9

Predicted Effect

probably benign
Transcript: ENSMUST00000160023

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090

Domain	Start	End	E-Value	Type
internal_repeat_1	2	65	4.52e-24	PROSPERO
internal_repeat_1	65	128	4.52e-24	PROSPERO
low complexity region	181	194	N/A	INTRINSIC
low complexity region	223	237	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
low complexity region	441	465	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162875
AA Change: P480S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: P480S

Domain	Start	End	E-Value	Type
low complexity region	13	43	N/A	INTRINSIC
Pfam:DUF4592	130	243	1.8e-33	PFAM
low complexity region	347	366	N/A	INTRINSIC
internal_repeat_2	387	461	2.31e-5	PROSPERO
internal_repeat_3	404	474	3.67e-5	PROSPERO
internal_repeat_1	411	526	3.02e-34	PROSPERO
internal_repeat_2	485	559	2.31e-5	PROSPERO
internal_repeat_1	537	652	3.02e-34	PROSPERO
internal_repeat_3	570	698	3.67e-5	PROSPERO
low complexity region	705	718	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	965	989	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in 2010300C02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:2010300C02Rik	APN	1	37628344	missense	probably damaging	0.99
IGL01413:2010300C02Rik	APN	1	37612306	missense	possibly damaging	0.85
IGL01812:2010300C02Rik	APN	1	37625365	missense	probably benign	0.06
IGL02498:2010300C02Rik	APN	1	37623845	missense	probably benign
IGL02713:2010300C02Rik	APN	1	37624137	missense	possibly damaging	0.72
IGL02736:2010300C02Rik	APN	1	37637873	missense	probably damaging	1.00
FR4449:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4449:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4548:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4548:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4548:2010300C02Rik	UTSW	1	37625102	missense	probably damaging	0.96
FR4737:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4737:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4976:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4976:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4976:2010300C02Rik	UTSW	1	37625102	missense	probably damaging	0.96
R0022:2010300C02Rik	UTSW	1	37628245	missense	probably damaging	1.00
R0022:2010300C02Rik	UTSW	1	37628245	missense	probably damaging	1.00
R0055:2010300C02Rik	UTSW	1	37624256	missense	probably benign	0.18
R0153:2010300C02Rik	UTSW	1	37624639	missense	probably benign
R0523:2010300C02Rik	UTSW	1	37644629	start codon destroyed	probably null	0.94
R0699:2010300C02Rik	UTSW	1	37612330	missense	possibly damaging	0.85
R0928:2010300C02Rik	UTSW	1	37624582	missense	possibly damaging	0.85
R1457:2010300C02Rik	UTSW	1	37626012	nonsense	probably null
R1759:2010300C02Rik	UTSW	1	37625710	missense	probably benign	0.00
R1888:2010300C02Rik	UTSW	1	37624283	missense	possibly damaging	0.53
R1888:2010300C02Rik	UTSW	1	37624283	missense	possibly damaging	0.53
R2289:2010300C02Rik	UTSW	1	37612261	missense	possibly damaging	0.53
R2421:2010300C02Rik	UTSW	1	37613475	missense	probably benign	0.33
R2422:2010300C02Rik	UTSW	1	37613475	missense	probably benign	0.33
R2509:2010300C02Rik	UTSW	1	37625300	missense	probably benign
R2510:2010300C02Rik	UTSW	1	37625300	missense	probably benign
R2511:2010300C02Rik	UTSW	1	37625300	missense	probably benign
R3893:2010300C02Rik	UTSW	1	37631458	missense	probably benign	0.00
R4351:2010300C02Rik	UTSW	1	37624912	missense	probably benign
R4454:2010300C02Rik	UTSW	1	37624753	missense	probably damaging	1.00
R4788:2010300C02Rik	UTSW	1	37631475	missense	probably damaging	1.00
R4798:2010300C02Rik	UTSW	1	37624965	missense	probably benign	0.12
R5599:2010300C02Rik	UTSW	1	37613343	missense	possibly damaging	0.53
R5920:2010300C02Rik	UTSW	1	37637981	missense	probably damaging	1.00
R6051:2010300C02Rik	UTSW	1	37624225	missense	probably damaging	0.98
R6106:2010300C02Rik	UTSW	1	37613412	missense	possibly damaging	0.53
R6794:2010300C02Rik	UTSW	1	37637855	splice site	probably null
R6828:2010300C02Rik	UTSW	1	37624817	missense	possibly damaging	0.53
R6930:2010300C02Rik	UTSW	1	37624945	missense	possibly damaging	0.73
R7044:2010300C02Rik	UTSW	1	37612280	missense	possibly damaging	0.85
R7069:2010300C02Rik	UTSW	1	37631901	missense	probably damaging	1.00
R7149:2010300C02Rik	UTSW	1	37612271	nonsense	probably null
R7296:2010300C02Rik	UTSW	1	37614618	missense	possibly damaging	0.53
R7698:2010300C02Rik	UTSW	1	37625371	missense	probably benign	0.12
R7714:2010300C02Rik	UTSW	1	37624777	missense	probably benign	0.33
R8071:2010300C02Rik	UTSW	1	37623929	nonsense	probably null
R8205:2010300C02Rik	UTSW	1	37624966	missense	probably benign	0.06
R8443:2010300C02Rik	UTSW	1	37613456	missense	probably benign	0.33
R8720:2010300C02Rik	UTSW	1	37613441	missense	possibly damaging	0.53
R8917:2010300C02Rik	UTSW	1	37637912	missense	probably damaging	0.99
R9056:2010300C02Rik	UTSW	1	37624472	missense	possibly damaging	0.91
R9158:2010300C02Rik	UTSW	1	37631361	missense	probably damaging	0.99
R9290:2010300C02Rik	UTSW	1	37624553	missense	probably damaging	0.97
R9483:2010300C02Rik	UTSW	1	37631415	missense	probably damaging	1.00
R9641:2010300C02Rik	UTSW	1	37624511	missense	possibly damaging	0.85
X0025:2010300C02Rik	UTSW	1	37624945	missense	probably benign	0.33

Posted On

2015-04-16