Mutagenetix > Incidental Mutations

Incidental Mutation 'R6106:2010300C02Rik'

485491

Institutional Source

Beutler Lab

Gene Symbol

2010300C02Rik

Ensembl Gene

ENSMUSG00000026090

Gene Name

RIKEN cDNA 2010300C02 gene

Synonyms

MMRRC Submission

044256-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6106 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37611677-37720085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37613412 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1105 (T1105A)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000160023
AA Change: T580A

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: T580A

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

noncoding transcript
Transcript: ENSMUST00000160659

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162875
AA Change: T1105A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: T1105A

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,989,012	E726G	probably damaging	Het
Adgrl4	A	G	3: 151,540,985	I641V	possibly damaging	Het
Apoa5	A	T	9: 46,270,633	R336*	probably null	Het
Bfsp2	T	A	9: 103,479,824	T135S	probably benign	Het
Calhm2	A	T	19: 47,133,062	Y223N	probably damaging	Het
Ccdc158	T	C	5: 92,627,466	E960G	probably benign	Het
Ccdc80	T	C	16: 45,096,710	S610P	probably benign	Het
Cdon	T	A	9: 35,455,408	Y193*	probably null	Het
Cept1	A	T	3: 106,503,676	H400Q	probably benign	Het
Clspn	T	A	4: 126,590,641	N1197K	probably benign	Het
Cnot8	T	C	11: 58,113,990	S172P	probably damaging	Het
Col14a1	T	C	15: 55,520,008	I1794T	probably damaging	Het
Fam183b	T	C	11: 58,796,601	E66G	probably damaging	Het
Fam193a	A	T	5: 34,459,030	T564S	possibly damaging	Het
Galnt1	G	A	18: 24,254,663	V154I	probably benign	Het
Gm14139	A	G	2: 150,192,805	K349E	probably damaging	Het
Gstcd	C	A	3: 132,998,914	E526D	probably benign	Het
Ighv1-42	A	C	12: 114,937,287	S59R	probably benign	Het
Morn3	A	G	5: 123,046,760	C6R	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr169	A	G	16: 19,566,259	L208P	probably damaging	Het
Olfr632	A	G	7: 103,938,193	H271R	probably benign	Het
Olfr883	T	A	9: 38,026,466	I220N	probably damaging	Het
Olfr913	T	C	9: 38,594,956	M245T	probably benign	Het
Pcdhb11	A	G	18: 37,423,003	N462S	probably damaging	Het
Pfpl	G	T	19: 12,429,461	D359Y	probably damaging	Het
Phyhip	T	C	14: 70,461,859	V34A	probably benign	Het
Pigu	A	T	2: 155,297,196	I313N	possibly damaging	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Psg16	T	A	7: 17,095,166	F225Y	possibly damaging	Het
Setdb2	T	A	14: 59,423,449	K82*	probably null	Het
Sgms1	A	G	19: 32,124,425	S394P	possibly damaging	Het
Slc16a1	T	C	3: 104,652,994	L205P	probably benign	Het
Slc19a1	T	A	10: 77,044,769	I380N	probably damaging	Het
Snx32	A	G	19: 5,498,014	I131T	probably benign	Het
Sorbs3	T	C	14: 70,192,604		probably null	Het
Stc2	T	A	11: 31,360,392	I215L	probably benign	Het
Tln2	C	T	9: 67,323,020	A84T	probably damaging	Het
Tomm34	A	G	2: 164,060,991	M133T	probably benign	Het
Usp43	A	G	11: 67,879,907	S634P	probably benign	Het
Vmn2r59	T	A	7: 42,012,325	R689*	probably null	Het
Vmn2r9	C	T	5: 108,845,036	R536Q	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zfhx2	T	A	14: 55,068,310		probably null	Het
Zfp608	G	T	18: 54,987,872	H214Q	possibly damaging	Het
Zfp619	T	C	7: 39,535,134	V196A	probably benign	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
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
X0025:2010300C02Rik	UTSW	1	37624945	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCTCAACATGGCAAAATGATTC -3'
(R):5'- CCCTTTCCAGAAAGTGCCAG -3'

Sequencing Primer
(F):5'- ACATGGCAAAATGATTCAATAACAC -3'
(R):5'- TCTGTTATCCTTGGGCAG -3'

Posted On

2017-08-16