Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:0610009O20Rik'

592189

Institutional Source

Beutler Lab

Gene Symbol

0610009O20Rik

Ensembl Gene

ENSMUSG00000024442

Gene Name

RIKEN cDNA 0610009O20 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38250249-38262629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38259925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 394 (I394N)

Ref Sequence

ENSEMBL: ENSMUSP00000025314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025314]

AlphaFold

Q9DCV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025314
AA Change: I394N

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

SMART Domains

Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: I394N

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
low complexity region	35	46	N/A	INTRINSIC
low complexity region	127	140	N/A	INTRINSIC
SEL1	244	277	1.53e2	SMART
SEL1	278	313	2.8e-9	SMART
SEL1	314	351	3.3e1	SMART
SEL1	352	385	1.31e0	SMART
SEL1	386	421	1.67e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in 0610009O20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:0610009O20Rik	APN	18	38252860	missense	probably damaging	0.96
IGL02456:0610009O20Rik	APN	18	38261124	missense	probably damaging	1.00
R0134:0610009O20Rik	UTSW	18	38261264	missense	probably benign	0.37
R0225:0610009O20Rik	UTSW	18	38261264	missense	probably benign	0.37
R0511:0610009O20Rik	UTSW	18	38254071	critical splice donor site	probably null
R0560:0610009O20Rik	UTSW	18	38254498	missense	probably damaging	1.00
R1899:0610009O20Rik	UTSW	18	38258342	missense	probably benign	0.04
R3005:0610009O20Rik	UTSW	18	38259959	missense	possibly damaging	0.92
R3552:0610009O20Rik	UTSW	18	38258365	splice site	probably benign
R4418:0610009O20Rik	UTSW	18	38261287	critical splice donor site	probably null
R7448:0610009O20Rik	UTSW	18	38257266	missense	probably damaging	1.00
R9126:0610009O20Rik	UTSW	18	38251157	missense	probably benign
R9294:0610009O20Rik	UTSW	18	38261076	missense	probably damaging	1.00
Z1177:0610009O20Rik	UTSW	18	38254303	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAAACTCCTTCGGCAAGC -3'
(R):5'- GCCTTCTAACTCCTGCTAGG -3'

Sequencing Primer
(F):5'- AAGCACCGGGCCTCTAG -3'
(R):5'- TCTAACTCCTGCTAGGGCCAG -3'

Posted On

2019-11-12