Mutagenetix > Incidental Mutation

Incidental Mutation 'R1412:1810009A15Rik'

159656

Institutional Source

Beutler Lab

Gene Symbol

1810009A15Rik

Ensembl Gene

ENSMUSG00000071653

Gene Name

RIKEN cDNA 1810009A15 gene

Synonyms

MMRRC Submission

039468-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8866247-8868123 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8867359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140564 (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

SMART Domains

Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653

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

noncoding transcript
Transcript: ENSMUST00000187037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190843

Predicted Effect

probably benign
Transcript: ENSMUST00000187504

SMART Domains

Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190530

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189165

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,944,546 (GRCm39)	R394C	possibly damaging	Het
Adamts9	T	C	6: 92,773,414 (GRCm39)	Q1152R	probably benign	Het
Adgrv1	C	T	13: 81,243,569 (GRCm39)	G6277E	probably damaging	Het
Agbl2	A	G	2: 90,619,298 (GRCm39)	N41S	probably benign	Het
Akap7	A	T	10: 25,165,495 (GRCm39)		probably null	Het
Arl6ip1	A	G	7: 117,719,591 (GRCm39)	I179T	possibly damaging	Het
Atp1a4	C	T	1: 172,059,576 (GRCm39)	D839N	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
C1qtnf12	T	C	4: 156,047,190 (GRCm39)	V52A	probably benign	Het
C1qtnf2	A	G	11: 43,381,959 (GRCm39)	Y257C	probably damaging	Het
Cdc123	A	T	2: 5,808,776 (GRCm39)	D233E	possibly damaging	Het
Chdh	G	A	14: 29,756,680 (GRCm39)	E369K	probably benign	Het
D630045J12Rik	A	G	6: 38,172,695 (GRCm39)	V491A	probably benign	Het
Focad	T	C	4: 88,196,498 (GRCm39)		probably null	Het
Gabbr1	T	C	17: 37,365,805 (GRCm39)		probably null	Het
Hat1	G	T	2: 71,250,961 (GRCm39)	E170*	probably null	Het
Hs3st5	A	T	10: 36,708,672 (GRCm39)	H69L	probably benign	Het
Igsf10	T	C	3: 59,235,196 (GRCm39)		probably benign	Het
Itga2b	A	T	11: 102,347,831 (GRCm39)	L890Q	probably benign	Het
Or52e8b	A	G	7: 104,673,402 (GRCm39)	F262L	probably damaging	Het
Or7d11	C	G	9: 19,966,711 (GRCm39)	G16A	possibly damaging	Het
Parp10	A	G	15: 76,127,284 (GRCm39)	L51P	probably damaging	Het
Pbld2	A	G	10: 62,883,301 (GRCm39)	T108A	probably damaging	Het
Pdlim2	A	T	14: 70,411,773 (GRCm39)		probably benign	Het
Pikfyve	T	C	1: 65,241,989 (GRCm39)	V243A	possibly damaging	Het
Pla2g12b	G	A	10: 59,239,804 (GRCm39)		probably null	Het
Raly	A	G	2: 154,699,315 (GRCm39)	T40A	possibly damaging	Het
Rasgrp3	G	T	17: 75,816,822 (GRCm39)		probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smim22	G	C	16: 4,825,649 (GRCm39)	E11D	possibly damaging	Het
Socs2	T	C	10: 95,250,780 (GRCm39)	S18G	probably benign	Het
Srgap2	T	C	1: 131,228,151 (GRCm39)	E720G	possibly damaging	Het
Tas2r135	A	G	6: 42,382,768 (GRCm39)	I102M	probably benign	Het
Tex19.2	A	G	11: 121,007,761 (GRCm39)	V229A	possibly damaging	Het
Vmn1r234	T	A	17: 21,449,512 (GRCm39)	I142N	probably benign	Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Vwa3a	C	T	7: 120,379,377 (GRCm39)	T494I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfhx3	A	G	8: 109,641,199 (GRCm39)	D1166G	possibly 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
R0960:1810009A15Rik	UTSW	19	8,867,792 (GRCm39)	missense	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'- GGACACCAGAGCCCATTCAGTAATTTG -3'
(R):5'- TCAAGATCCTCCATAGCTACGTCCTG -3'

Sequencing Primer
(F):5'- AGAGACCTTATAAAACAAAaactggg -3'
(R):5'- ctcacaaccatccataacaaaaatc -3'

Posted On

2014-03-14