Mutagenetix > Incidental Mutations

Incidental Mutation 'R0347:1810043G02Rik'

38463

Institutional Source

Beutler Lab

Gene Symbol

1810043G02Rik

Ensembl Gene

ENSMUSG00000020284

Gene Name

RIKEN cDNA 1810043G02 gene

Synonyms

D10Jhu13e

MMRRC Submission

038554-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77978524-77986905 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77984422 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 209 (I209F)

Ref Sequence

ENSEMBL: ENSMUSP00000101036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000105397] [ENSMUST00000105398]

Predicted Effect

probably benign
Transcript: ENSMUST00000020522

SMART Domains

Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277

Domain	Start	End	E-Value	Type
Pfam:PFK	17	324	4.7e-109	PFAM
Pfam:PFK	401	686	1.9e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105397
AA Change: I209F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284
AA Change: I209F

Domain	Start	End	E-Value	Type
LRRcap	104	122	3.42e-2	SMART
low complexity region	178	191	N/A	INTRINSIC
low complexity region	210	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105398

SMART Domains

Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284

Domain	Start	End	E-Value	Type
LRRcap	104	122	3.42e-2	SMART
low complexity region	178	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149074

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,297,854	H800Q	probably damaging	Het
Abca4	A	G	3: 122,120,099	E908G	probably benign	Het
Abcb5	T	A	12: 118,965,251		probably benign	Het
Adhfe1	T	A	1: 9,553,430	F102Y	probably benign	Het
Aff4	A	G	11: 53,400,088	Y625C	probably benign	Het
Alox5	T	C	6: 116,413,552	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,193,754	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,702,022	*1084R	probably null	Het
Apol10a	A	T	15: 77,488,691	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,617,744	T70I	unknown	Het
Arid2	A	G	15: 96,370,952	N982S	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Camsap3	A	G	8: 3,602,029	D291G	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,059,827	G162V	probably damaging	Het
Cep44	T	G	8: 56,545,475	E56A	probably damaging	Het
Cfap65	A	G	1: 74,926,444	L469P	probably damaging	Het
Cilp	T	A	9: 65,280,153	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,545,754	P7S	probably damaging	Het
Cyp11a1	T	C	9: 58,016,260		probably benign	Het
Cyp3a11	C	T	5: 145,865,925	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,181,392	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,240,944	S2678T	probably damaging	Het
Dock1	T	C	7: 134,763,867	I428T	probably damaging	Het
Fam83f	A	G	15: 80,672,257	D114G	probably damaging	Het
Flt3	T	A	5: 147,357,992	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,590,175	F31L	probably damaging	Het
Glrx3	G	A	7: 137,437,701	E10K	unknown	Het
Gm12185	T	C	11: 48,915,182	E394G	probably benign	Het
Gm15448	A	T	7: 3,822,874	V332E	probably damaging	Het
Gpatch1	C	T	7: 35,297,631	V381M	probably benign	Het
Grm8	T	C	6: 27,981,222	S230G	probably benign	Het
Heyl	A	T	4: 123,233,940	D25V	probably benign	Het
Junb	G	A	8: 84,978,478		probably benign	Het
Klhl29	C	A	12: 5,084,354	V747F	probably damaging	Het
Krt77	T	C	15: 101,859,869	H569R	unknown	Het
Ldhb	T	C	6: 142,494,133	N227S	probably benign	Het
Megf6	A	G	4: 154,254,635	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,210,693	Q136L	probably benign	Het
Myh2	C	T	11: 67,185,304		probably benign	Het
Nadk2	T	A	15: 9,084,207	D133E	probably benign	Het
Neurod4	G	A	10: 130,271,111	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,536,290	T465K	probably damaging	Het
Nipbl	A	G	15: 8,350,732	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155		probably benign	Het
Nlrp4c	A	G	7: 6,066,416	K439E	possibly damaging	Het
Olfr1419	A	T	19: 11,870,433	L261H	probably damaging	Het
Olfr392	C	T	11: 73,814,311	G257D	probably damaging	Het
Olfr434	T	C	6: 43,217,362	F150L	probably benign	Het
Pds5b	T	A	5: 150,736,427		probably benign	Het
Plch1	A	G	3: 63,753,316	M282T	probably damaging	Het
Plch2	C	A	4: 154,986,721	R1067L	possibly damaging	Het
Pou2f2	A	C	7: 25,097,701	F206V	probably damaging	Het
Prss50	A	G	9: 110,862,350	I49V	probably damaging	Het
Rexo5	T	A	7: 119,823,896		probably null	Het
Rgl2	C	T	17: 33,932,738	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,030,804	K1280*	probably null	Het
Rpl24	T	A	16: 55,970,177		probably null	Het
Satb1	T	A	17: 51,739,906	K763*	probably null	Het
Sema6a	T	A	18: 47,291,129	R237S	probably damaging	Het
Spg11	T	C	2: 122,097,369	T645A	probably damaging	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Tanc1	T	C	2: 59,842,991	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,294,632	E198G	probably damaging	Het
Tigd4	A	G	3: 84,593,860	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,441,648	L226V	probably benign	Het
Ttll13	T	C	7: 80,260,505	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,910,233	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,793,543	H98Q	probably damaging	Het
Zfp651	C	T	9: 121,763,102	P198S	probably damaging	Het
Zfp959	T	A	17: 55,897,180	Y69*	probably null	Het
Znrd1as	T	A	17: 36,965,315	M114K	probably damaging	Het

Other mutations in 1810043G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:1810043G02Rik	APN	10	77982950	missense	possibly damaging	0.62
IGL02376:1810043G02Rik	APN	10	77984554	intron	probably benign
IGL02671:1810043G02Rik	APN	10	77980550	splice site	probably benign
R0145:1810043G02Rik	UTSW	10	77983556	missense	probably benign	0.04
R0568:1810043G02Rik	UTSW	10	77983038	missense	possibly damaging	0.48
R0568:1810043G02Rik	UTSW	10	77984547	makesense	probably null
R1778:1810043G02Rik	UTSW	10	77982944	missense	probably benign	0.00
R2279:1810043G02Rik	UTSW	10	77981642	missense	probably damaging	1.00
R2939:1810043G02Rik	UTSW	10	77981673	missense	probably benign	0.00
R4656:1810043G02Rik	UTSW	10	77981616	missense	probably benign	0.01
R4866:1810043G02Rik	UTSW	10	77981579	splice site	probably null
R6539:1810043G02Rik	UTSW	10	77984488	missense	probably benign	0.07
R7016:1810043G02Rik	UTSW	10	77982956	missense	probably benign
R7950:1810043G02Rik	UTSW	10	77979767	missense	probably damaging	1.00
R8168:1810043G02Rik	UTSW	10	77982944	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCTCACCTTTGGGTTGGAAACAC -3'
(R):5'- GCGGCTGAGAAACAACATGAACCTC -3'

Sequencing Primer
(F):5'- GTTGGAAACACCCCGCTC -3'
(R):5'- GAGATGCTTCCTGTCCCAGAC -3'

Posted On

2013-05-23