Mutagenetix > Incidental Mutations

Incidental Mutation 'R6758:0610010F05Rik'

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531109

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R6758 (G1)

Quality Score

97.0078

Status

Not validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

splice site (160 bp from exon)

DNA Base Change (assembly)

T to C at 23588475 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]

Predicted Effect

probably null
Transcript: ENSMUST00000043356

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093267

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	303	7.7e-107	PFAM
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109532

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123909

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155903

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	1e-106	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180260

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	4.5e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,263,313	D1374E	probably damaging	Het
Cd96	C	A	16: 46,118,004	V33L	possibly damaging	Het
Drd1	T	C	13: 54,053,289	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm11595	C	A	11: 99,772,540	V105L	unknown	Het
Gm11595	A	T	11: 99,772,541	C104*	probably null	Het
Igsf3	T	C	3: 101,425,498	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,538,900	H483Q	probably damaging	Het
Itgbl1	A	G	14: 123,857,489	K309E	probably benign	Het
Myt1l	T	G	12: 29,842,600	Y79D	possibly damaging	Het
Nid2	T	A	14: 19,802,483	S1086R	probably damaging	Het
Olfr107	A	G	17: 37,405,695	D49G	probably damaging	Het
Olfr192	T	C	16: 59,098,965	E9G	probably damaging	Het
Olfr808	T	C	10: 129,768,051	I185T	probably damaging	Het
Rorc	A	G	3: 94,387,518	N51S	possibly damaging	Het
Simc1	C	T	13: 54,525,548	P570S	possibly damaging	Het
Smn1	T	A	13: 100,132,438	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,518,403	D1608G	probably benign	Het
Tll1	C	A	8: 64,041,405		probably null	Het
Trim15	A	G	17: 36,862,341	L284P	probably benign	Het

Other mutations in 0610010F05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:0610010F05Rik	APN	11	23595434	missense	probably damaging	1.00
IGL01444:0610010F05Rik	APN	11	23620225	splice site	probably benign
IGL01522:0610010F05Rik	APN	11	23582865	critical splice donor site	probably null
IGL01819:0610010F05Rik	APN	11	23584561	missense	probably benign	0.29
IGL02470:0610010F05Rik	APN	11	23615222	missense	probably damaging	0.99
IGL03046:0610010F05Rik	UTSW	11	23615150	missense	possibly damaging	0.77
R0139:0610010F05Rik	UTSW	11	23620214	splice site	probably benign
R0334:0610010F05Rik	UTSW	11	23617129	splice site	probably benign
R0646:0610010F05Rik	UTSW	11	23575491	missense	probably damaging	0.99
R1078:0610010F05Rik	UTSW	11	23611762	missense	probably benign	0.45
R1263:0610010F05Rik	UTSW	11	23620278	nonsense	probably null
R1471:0610010F05Rik	UTSW	11	23615222	missense	probably damaging	0.99
R1568:0610010F05Rik	UTSW	11	23589971	missense	probably damaging	1.00
R2163:0610010F05Rik	UTSW	11	23576826	splice site	probably benign
R2318:0610010F05Rik	UTSW	11	23588701	missense	probably damaging	1.00
R2426:0610010F05Rik	UTSW	11	23576801	missense	probably damaging	1.00
R4373:0610010F05Rik	UTSW	11	23615265	splice site	probably null
R4688:0610010F05Rik	UTSW	11	23593449	missense	probably benign
R4816:0610010F05Rik	UTSW	11	23615243	missense	possibly damaging	0.67
R5046:0610010F05Rik	UTSW	11	23620354	missense	probably benign	0.23
R5156:0610010F05Rik	UTSW	11	23593424	critical splice donor site	probably null
R5249:0610010F05Rik	UTSW	11	23575483	makesense	probably null
R5615:0610010F05Rik	UTSW	11	23606759	missense	probably damaging	0.96
R6860:0610010F05Rik	UTSW	11	23625100	missense	probably damaging	1.00
R6910:0610010F05Rik	UTSW	11	23620447	missense	probably damaging	0.99
R7255:0610010F05Rik	UTSW	11	23620465	missense	probably benign	0.41
R7286:0610010F05Rik	UTSW	11	23622479	missense	probably benign	0.07
R7603:0610010F05Rik	UTSW	11	23566191	missense	probably benign
R7618:0610010F05Rik	UTSW	11	23584550	missense	possibly damaging	0.91
R7717:0610010F05Rik	UTSW	11	23606757	missense	probably benign	0.05
R8110:0610010F05Rik	UTSW	11	23576764	missense	probably benign
X0026:0610010F05Rik	UTSW	11	23576767	missense	probably benign	0.00
X0067:0610010F05Rik	UTSW	11	23593420	splice site	probably null
Z1177:0610010F05Rik	UTSW	11	23624960	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGTACACACAGAGCACCAGG -3'
(R):5'- TTCTCAGAAGAGGAAGAGTATACCACG -3'

Sequencing Primer
(F):5'- CACACAGAGCACCAGGGTTTATTTTC -3'
(R):5'- TCTGAGGTCACTGAAGATGAAGTC -3'

Posted On

2018-08-01