Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02498:2010300C02Rik'

295908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2010300C02Rik

Ensembl Gene

ENSMUSG00000026090

Gene Name

RIKEN cDNA 2010300C02 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02498

Quality Score

Status

Chromosome

Chromosomal Location

37611677-37720085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37623845 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 991 (T991A)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000160023
AA Change: T466A

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: T466A

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

probably benign
Transcript: ENSMUST00000162875
AA Change: T991A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: T991A

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abcc9	A	T	6: 142,671,539		probably null	Het
Abcg8	T	C	17: 84,683,265	W12R	probably benign	Het
Ablim1	A	T	19: 57,152,319	C155*	probably null	Het
Adam33	A	G	2: 131,053,237	C658R	probably damaging	Het
Adamts2	G	T	11: 50,777,196	K528N	probably damaging	Het
Adamts2	A	G	11: 50,773,308	H357R	possibly damaging	Het
Arhgef12	G	A	9: 42,982,043	P955S	probably benign	Het
Atp2b2	T	A	6: 113,793,854	I365F	probably damaging	Het
AW112010	T	C	19: 11,048,337		noncoding transcript	Het
AY358078	T	C	14: 51,803,487	S88P	probably benign	Het
Cdc42bpg	T	C	19: 6,322,793	L1504S	probably benign	Het
Dgkg	T	A	16: 22,548,691	H593L	probably damaging	Het
Gm10463	T	C	5: 32,131,398		probably benign	Het
Grm1	A	T	10: 10,719,979	L635Q	probably damaging	Het
Herc4	T	C	10: 63,273,465	C160R	probably benign	Het
Hs6st1	G	A	1: 36,103,740	R252H	probably damaging	Het
Litaf	A	G	16: 10,966,559	V29A	possibly damaging	Het
Lmo7	G	A	14: 101,807,482	V57I	probably benign	Het
Loxl4	A	T	19: 42,604,973	L253Q	probably benign	Het
Mon2	C	T	10: 123,034,330	V458I	probably benign	Het
Ncstn	G	T	1: 172,068,592	F506L	probably benign	Het
Nedd8	T	A	14: 55,663,816	D21V	probably damaging	Het
Oas1c	T	C	5: 120,805,526	T183A	possibly damaging	Het
Pcsk5	A	T	19: 17,511,556	Y967N	probably damaging	Het
Phf2	A	G	13: 48,805,239	S936P	unknown	Het
Pkd1	T	C	17: 24,585,779	I3159T	possibly damaging	Het
Prrt3	C	A	6: 113,497,827	V145F	possibly damaging	Het
Prx	T	A	7: 27,518,072	V666E	probably damaging	Het
Rapgef2	C	T	3: 79,066,753	V1577M	probably damaging	Het
Sesn3	T	C	9: 14,306,268		probably benign	Het
Shoc2	T	A	19: 54,027,776	L407*	probably null	Het
Slc6a12	A	G	6: 121,361,070	M435V	probably benign	Het
Smarcc1	C	T	9: 110,190,934	T623I	probably damaging	Het
Snx14	A	G	9: 88,407,464	L245S	probably damaging	Het
Son	T	A	16: 91,656,825	M820K	probably damaging	Het
Sorcs1	T	C	19: 50,678,168	T101A	probably benign	Het
Stoml2	C	A	4: 43,031,045	V37L	probably benign	Het
Syde2	T	A	3: 145,998,689	H465Q	probably benign	Het
Tmem164	T	A	X: 142,806,048	V40D	possibly damaging	Het
Trim37	A	G	11: 87,185,050	E494G	probably benign	Het
Triobp	A	G	15: 78,961,043	D195G	probably benign	Het
Unc79	G	A	12: 103,171,578	V2427M	probably damaging	Het
Usp27x	T	C	X: 7,373,541		probably benign	Het
Vmn2r113	T	A	17: 22,958,375	V711D	probably damaging	Het
Zfp940	T	C	7: 29,846,951	T7A	probably 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
IGL02183:2010300C02Rik	APN	1	37625378	missense	possibly damaging	0.93
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
X0025:2010300C02Rik	UTSW	1	37624945	missense	probably benign	0.33

Posted On

2015-04-16