Mutagenetix > Incidental Mutation

Incidental Mutation 'R9158:2010300C02Rik'

695485

Institutional Source

Beutler Lab

Gene Symbol

2010300C02Rik

Ensembl Gene

ENSMUSG00000026090

Gene Name

RIKEN cDNA 2010300C02 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37611677-37720085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37631361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 166 (M166K)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

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

AlphaFold

E9Q3M9

Predicted Effect

probably damaging
Transcript: ENSMUST00000162875
AA Change: M166K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: M166K

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 40,755,608	C637Y	probably damaging	Het
Ahdc1	A	G	4: 133,065,194	T1249A	possibly damaging	Het
Alkbh3	A	G	2: 94,004,737	S88P	probably damaging	Het
Ankrd17	C	A	5: 90,268,716	A1086S	probably damaging	Het
Ankzf1	T	A	1: 75,196,376	V372E	probably damaging	Het
Apbb1ip	T	C	2: 22,874,939	V544A	probably benign	Het
Atp13a2	T	C	4: 140,996,801		probably null	Het
Cacna2d1	A	G	5: 15,935,041	T10A	probably benign	Het
Cadps	T	C	14: 12,546,356	N500S	probably benign	Het
Casp16-ps	A	G	17: 23,550,974		probably benign	Het
Cdh22	T	A	2: 165,170,707	I153F	probably damaging	Het
Clip2	T	C	5: 134,492,397	E964G	probably benign	Het
Cryga	T	C	1: 65,103,039	D65G	probably benign	Het
Dap3	A	G	3: 88,925,330	Y357H	probably damaging	Het
Eef2	C	T	10: 81,178,859		probably benign	Het
Gja4	A	G	4: 127,312,673	L99P	probably damaging	Het
Glb1l3	A	T	9: 26,853,709	Y135*	probably null	Het
Gm5114	T	G	7: 39,411,062	D121A	probably damaging	Het
Gm6525	A	G	3: 84,174,948	K59E	probably benign	Het
Herc1	C	T	9: 66,469,118	L3407F	probably benign	Het
Hmgcr	G	A	13: 96,655,662	R589*	probably null	Het
Iglv3	A	C	16: 19,241,262	D105E	probably damaging	Het
Il1r1	G	A	1: 40,293,231	W60*	probably null	Het
Il31ra	C	T	13: 112,533,860	W331*	probably null	Het
Inca1	C	T	11: 70,690,550	C16Y	probably damaging	Het
Inpp4a	A	G	1: 37,403,471	T628A	possibly damaging	Het
Kdm2a	C	G	19: 4,324,687	R805S	possibly damaging	Het
Kel	T	A	6: 41,687,971	I620L	probably benign	Het
Kmt2d	C	T	15: 98,843,139	G4638R	unknown	Het
Lilr4b	T	A	10: 51,481,733	N174K	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Ltf	T	A	9: 111,038,935	V615E	probably damaging	Het
Map7d1	G	T	4: 126,236,685	Q443K	possibly damaging	Het
Mapk9	A	G	11: 49,854,268	D3G	probably benign	Het
Nktr	T	G	9: 121,753,088	S1424A	unknown	Het
Npas1	A	G	7: 16,461,408	S332P	possibly damaging	Het
Olfr212	T	C	6: 116,515,830	F18L	possibly damaging	Het
Olfr539	T	C	7: 140,667,634	S109P	possibly damaging	Het
Olfr668	T	C	7: 104,924,879	Y295C	probably damaging	Het
Olfr875	C	A	9: 37,773,504	P282T	probably damaging	Het
Olfr987	A	G	2: 85,331,004	I298T	probably benign	Het
Pcdh8	A	G	14: 79,767,742	W948R	probably damaging	Het
Pde3a	A	G	6: 141,249,888	E100G	probably benign	Het
Phrf1	T	A	7: 141,256,553	V246D	unknown	Het
Pitpnb	A	T	5: 111,383,010	N223I	probably damaging	Het
Pkd1l3	A	T	8: 109,667,575	R2065*	probably null	Het
Prepl	T	C	17: 85,075,951	D355G	possibly damaging	Het
Runx2	A	G	17: 44,735,621	V5A	probably benign	Het
Sema4g	T	A	19: 44,998,407	V433D	possibly damaging	Het
Sema6a	C	T	18: 47,298,263	V123I	probably damaging	Het
Senp6	A	G	9: 80,087,450	K24E	probably benign	Het
Slc22a8	T	A	19: 8,606,063	S211T	probably damaging	Het
Slc34a2	A	G	5: 53,063,875	D221G	possibly damaging	Het
Tmprss11g	A	T	5: 86,489,307	L323Q	probably damaging	Het
Tpcn1	T	C	5: 120,549,923		probably benign	Het
Trim65	G	A	11: 116,127,224	T311I	probably benign	Het
Tub	T	C	7: 109,026,755	F284L	possibly damaging	Het
Ube2j1	G	A	4: 33,036,711	V12I	probably benign	Het
Vmn2r101	A	T	17: 19,588,899	N97Y	probably benign	Het
Vmn2r49	C	A	7: 9,988,908	W146C	probably damaging	Het
Zfp628	T	C	7: 4,919,154	L125P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATCAGACTGACCACAC -3'
(R):5'- TCCTGAATGAATGAATCAGAGCAGG -3'

Sequencing Primer
(F):5'- TCAGACTGACCACACAACCG -3'
(R):5'- AGCAGGAAGATTTGTTGCTAGC -3'

Posted On

2022-01-20