Mutagenetix > Incidental Mutations

Incidental Mutation 'R4986:3632451O06Rik'

385887

Institutional Source

Beutler Lab

Gene Symbol

3632451O06Rik

Ensembl Gene

ENSMUSG00000036242

Gene Name

RIKEN cDNA 3632451O06 gene

Synonyms

MMRRC Submission

042580-MU

Accession Numbers

NCBI RefSeq: NM_026142.4; MGI:1914669

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49675952-49783383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49751654 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 619 (D619E)

Ref Sequence

ENSEMBL: ENSMUSP00000113609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036972] [ENSMUST00000118129]

Predicted Effect

probably benign
Transcript: ENSMUST00000036972
AA Change: D619E

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: D619E

Domain	Start	End	E-Value	Type
Pfam:DUF4696	48	609	3.8e-224	PFAM
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	753	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118129
AA Change: D619E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: D619E

Domain	Start	End	E-Value	Type
coiled coil region	603	644	N/A	INTRINSIC
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	754	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226894

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,627,591	C1005S	probably benign	Het
Ccdc34	T	C	2: 110,017,869	M1T	probably null	Het
Ceacam5	T	A	7: 17,757,833	N709K	possibly damaging	Het
Ces2f	G	A	8: 104,952,025	S298N	probably benign	Het
Defa30	T	A	8: 21,135,416	Y65*	probably null	Het
Dock3	A	C	9: 106,931,983	C1314G	probably damaging	Het
Emc2	A	G	15: 43,511,784	M226V	probably benign	Het
Fat3	T	C	9: 15,998,340	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,600,693	D560G	probably benign	Het
Gm9944	T	C	4: 144,453,190		probably benign	Het
Gpr137c	A	T	14: 45,246,286		probably null	Het
Igf2bp2	C	T	16: 22,070,306		probably null	Het
Igsf10	T	C	3: 59,328,606	T1385A	probably benign	Het
Itpr2	T	A	6: 146,240,342	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,452,609	H248R	probably damaging	Het
Macf1	C	T	4: 123,391,121	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,558,545	F266L	possibly damaging	Het
Mecom	G	T	3: 29,980,699	P466Q	probably damaging	Het
Muc20	A	G	16: 32,777,635		probably benign	Het
Olfr1151	T	A	2: 87,857,514	L113Q	probably damaging	Het
Olfr1265	A	T	2: 90,037,428	N170Y	probably damaging	Het
Osmr	A	G	15: 6,816,580		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Sacs	T	A	14: 61,213,043	Y4179*	probably null	Het
Sept11	T	C	5: 93,161,241	V203A	probably damaging	Het
Skint9	T	A	4: 112,391,713	T173S	probably benign	Het
Slain1	A	T	14: 103,688,105	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,146,766	*93C	probably null	Het
Sp110	G	A	1: 85,591,760	P116S	probably benign	Het
Srl	T	C	16: 4,496,782	Y332C	probably benign	Het
Ubtf	G	A	11: 102,314,174	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Ybx1	C	T	4: 119,282,430	V123I	probably damaging	Het
Zfp944	A	T	17: 22,339,230	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,657,557	F113I	probably benign	Het

Other mutations in 3632451O06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:3632451O06Rik	APN	14	49773003	missense	probably damaging	1.00
IGL00981:3632451O06Rik	APN	14	49772990	missense	probably damaging	1.00
IGL01447:3632451O06Rik	APN	14	49768466	missense	probably damaging	0.99
IGL01645:3632451O06Rik	APN	14	49773554	missense	probably damaging	1.00
IGL02135:3632451O06Rik	APN	14	49773929	missense	probably damaging	0.99
IGL02154:3632451O06Rik	APN	14	49772942	missense	possibly damaging	0.58
IGL02163:3632451O06Rik	APN	14	49774157	missense	possibly damaging	0.61
IGL03234:3632451O06Rik	APN	14	49768516	missense	probably damaging	1.00
P0014:3632451O06Rik	UTSW	14	49751659	missense	probably damaging	1.00
R0165:3632451O06Rik	UTSW	14	49773786	missense	probably benign
R0240:3632451O06Rik	UTSW	14	49768402	splice site	probably benign
R0553:3632451O06Rik	UTSW	14	49682686	missense	probably damaging	0.99
R0616:3632451O06Rik	UTSW	14	49773656	missense	possibly damaging	0.74
R0635:3632451O06Rik	UTSW	14	49773143	missense	probably benign	0.00
R1423:3632451O06Rik	UTSW	14	49751439	missense	probably damaging	1.00
R1547:3632451O06Rik	UTSW	14	49773496	missense	probably benign	0.01
R1642:3632451O06Rik	UTSW	14	49768410	splice site	probably null
R1657:3632451O06Rik	UTSW	14	49773560	missense	probably damaging	0.99
R1717:3632451O06Rik	UTSW	14	49751664	missense	probably damaging	0.99
R1875:3632451O06Rik	UTSW	14	49682358	missense	probably damaging	1.00
R1900:3632451O06Rik	UTSW	14	49770583	missense	probably damaging	1.00
R1916:3632451O06Rik	UTSW	14	49768475	missense	probably damaging	1.00
R1945:3632451O06Rik	UTSW	14	49768483	missense	probably damaging	1.00
R2102:3632451O06Rik	UTSW	14	49774002	missense	probably damaging	0.98
R2147:3632451O06Rik	UTSW	14	49751571	missense	probably benign	0.31
R2149:3632451O06Rik	UTSW	14	49751571	missense	probably benign	0.31
R3921:3632451O06Rik	UTSW	14	49774202	missense	probably benign	0.13
R4063:3632451O06Rik	UTSW	14	49773987	missense	probably benign	0.02
R4373:3632451O06Rik	UTSW	14	49770436	missense	probably damaging	1.00
R4374:3632451O06Rik	UTSW	14	49770436	missense	probably damaging	1.00
R4377:3632451O06Rik	UTSW	14	49770436	missense	probably damaging	1.00
R4589:3632451O06Rik	UTSW	14	49773582	missense	probably damaging	1.00
R4940:3632451O06Rik	UTSW	14	49773482	missense	probably benign	0.15
R5047:3632451O06Rik	UTSW	14	49770438	missense	probably damaging	1.00
R5104:3632451O06Rik	UTSW	14	49773472	missense	possibly damaging	0.77
R5682:3632451O06Rik	UTSW	14	49751586	missense	probably damaging	1.00
R6357:3632451O06Rik	UTSW	14	49773312	missense	probably benign	0.10
R6478:3632451O06Rik	UTSW	14	49773332	missense	possibly damaging	0.61
R6673:3632451O06Rik	UTSW	14	49770592	missense	probably benign	0.00
R7035:3632451O06Rik	UTSW	14	49773050	missense	possibly damaging	0.77
R7054:3632451O06Rik	UTSW	14	49773698	missense	probably damaging	1.00
R7458:3632451O06Rik	UTSW	14	49682739	missense	probably damaging	1.00
R7536:3632451O06Rik	UTSW	14	49774246	splice site	probably null
R7944:3632451O06Rik	UTSW	14	49773213	missense	probably benign	0.25
R7945:3632451O06Rik	UTSW	14	49773213	missense	probably benign	0.25
R8049:3632451O06Rik	UTSW	14	49773536	missense	probably damaging	0.97
R8066:3632451O06Rik	UTSW	14	49768523	missense	possibly damaging	0.83
R8519:3632451O06Rik	UTSW	14	49773236	missense	probably damaging	1.00
X0026:3632451O06Rik	UTSW	14	49682736	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGACCTTGATTCTGCTG -3'
(R):5'- CCGTGGACTACTCAATGTTGAC -3'

Sequencing Primer
(F):5'- ACTCGATGGTCTCTGGCAC -3'
(R):5'- GTGGACTACTCAATGTTGACTTTAAC -3'

Posted On

2016-05-10