Mutagenetix > Incidental Mutation

Incidental Mutation 'R0960:1810009A15Rik'

81849

Institutional Source

Beutler Lab

Gene Symbol

1810009A15Rik

Ensembl Gene

ENSMUSG00000071653

Gene Name

RIKEN cDNA 1810009A15 gene

Synonyms

MMRRC Submission

039089-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R0960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8866247-8868123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8867792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 256 (V256A)

Ref Sequence

ENSEMBL: ENSMUSP00000139692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096249] [ENSMUST00000096251] [ENSMUST00000177826] [ENSMUST00000185488] [ENSMUST00000187504] [ENSMUST00000191089]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093658

Predicted Effect

probably benign
Transcript: ENSMUST00000096249

SMART Domains

Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:INTS5_N	29	252	1e-82	PFAM
low complexity region	254	267	N/A	INTRINSIC
Pfam:INTS5_C	289	998	2.2e-249	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096251
AA Change: S94P

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

SMART Domains

Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653
AA Change: S94P

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175573

Predicted Effect

probably benign
Transcript: ENSMUST00000177826

SMART Domains

Protein: ENSMUSP00000137432
Gene: ENSMUSG00000116166

Domain	Start	End	E-Value	Type
Pfam:Lbh	1	101	1.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185488

SMART Domains

Protein: ENSMUSP00000140221
Gene: ENSMUSG00000071653

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186647

Predicted Effect

probably benign
Transcript: ENSMUST00000187504
AA Change: V256A

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

SMART Domains

Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740
AA Change: V256A

Domain	Start	End	E-Value	Type
Pfam:Lbh	1	101	2.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187037

Predicted Effect

probably benign
Transcript: ENSMUST00000191089

SMART Domains

Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930474N05Rik	C	A	14: 35,818,367 (GRCm39)	H122N	probably benign	Het
Aamp	T	C	1: 74,320,304 (GRCm39)	T341A	possibly damaging	Het
Adam26a	A	T	8: 44,021,800 (GRCm39)	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,924,868 (GRCm39)	E118K	probably benign	Het
Asic5	A	G	3: 81,913,847 (GRCm39)	I174V	probably benign	Het
Atad2b	G	A	12: 5,056,593 (GRCm39)		probably benign	Het
Bub1b	A	G	2: 118,437,161 (GRCm39)	I120V	probably benign	Het
Casp8	T	C	1: 58,868,172 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,161,745 (GRCm39)	Y254H	probably benign	Het
Clasp1	T	C	1: 118,479,756 (GRCm39)	I996T	probably benign	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Flnc	A	G	6: 29,441,511 (GRCm39)	D431G	probably damaging	Het
Gm4884	T	A	7: 40,692,232 (GRCm39)	M67K	possibly damaging	Het
Hmx3	T	C	7: 131,145,043 (GRCm39)	Y118H	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Il12b	G	T	11: 44,299,315 (GRCm39)	C128F	probably damaging	Het
Ints6	T	C	14: 62,947,015 (GRCm39)	M317V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kif27	T	C	13: 58,471,781 (GRCm39)	E769G	probably damaging	Het
Kif28	G	A	1: 179,523,370 (GRCm39)	Q987*	probably null	Het
Klhdc3	T	C	17: 46,987,444 (GRCm39)	H330R	possibly damaging	Het
Leo1	G	A	9: 75,352,522 (GRCm39)	E22K	probably benign	Het
Lpcat2	C	T	8: 93,596,338 (GRCm39)	T125M	probably benign	Het
Map1a	A	G	2: 121,132,124 (GRCm39)	Y742C	probably benign	Het
Mllt6	C	T	11: 97,555,772 (GRCm39)		probably benign	Het
Mpp2	A	G	11: 101,952,411 (GRCm39)	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myo10	A	G	15: 25,801,275 (GRCm39)	E1488G	probably damaging	Het
Neb	A	G	2: 52,102,995 (GRCm39)	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,291,047 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,406,279 (GRCm39)	Y284H	probably benign	Het
Or2w1b	A	C	13: 21,300,435 (GRCm39)	D191A	possibly damaging	Het
Pde1a	G	A	2: 79,695,378 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,471,303 (GRCm39)		probably benign	Het
Selenoo	T	G	15: 88,980,957 (GRCm39)	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,295,717 (GRCm39)	I140F	probably damaging	Het
Svopl	G	T	6: 37,993,992 (GRCm39)	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,497,852 (GRCm39)		probably benign	Het
Tlr3	A	C	8: 45,850,452 (GRCm39)	I815S	probably damaging	Het
Tmem25	T	A	9: 44,706,809 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,008,650 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,661,421 (GRCm39)		probably benign	Het
Txndc11	A	T	16: 10,909,453 (GRCm39)	D364E	probably benign	Het
Unc5cl	G	T	17: 48,766,624 (GRCm39)		probably benign	Het
Vmn1r13	A	G	6: 57,186,996 (GRCm39)	M52V	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het

Other mutations in 1810009A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0948:1810009A15Rik	UTSW	19	8,867,390 (GRCm39)	missense	probably damaging	1.00
R1412:1810009A15Rik	UTSW	19	8,867,359 (GRCm39)	splice site	probably benign
R2887:1810009A15Rik	UTSW	19	8,867,395 (GRCm39)	missense	probably damaging	1.00
R7699:1810009A15Rik	UTSW	19	8,867,417 (GRCm39)	missense	probably benign	0.15
R7700:1810009A15Rik	UTSW	19	8,867,417 (GRCm39)	missense	probably benign	0.15
R8362:1810009A15Rik	UTSW	19	8,867,395 (GRCm39)	missense	probably damaging	1.00
R9507:1810009A15Rik	UTSW	19	8,866,587 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGGCACAGAGGCTACACAAC -3'
(R):5'- TGCACTTCATCCCACACGGTGAAC -3'

Sequencing Primer
(F):5'- cactccagaagagggcatc -3'
(R):5'- TCAGGGTCCGCTGTAGAAG -3'

Posted On

2013-11-08