Mutagenetix > Incidental Mutations

Incidental Mutation 'R0334:0610010F05Rik'

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26138

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

038543-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R0334 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 23617129 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]

Predicted Effect

probably benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000141353

SMART Domains

Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	189	7.1e-75	PFAM

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 benign
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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,371,597	N87S	probably benign	Het
Ap2b1	T	C	11: 83,367,874		probably benign	Het
Arfgef3	A	G	10: 18,592,281	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,583,926	Q243*	probably null	Het
Atp8a2	A	T	14: 59,691,512	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,114,760		probably null	Het
Brinp2	G	T	1: 158,295,585	T37K	probably benign	Het
Bsph1	T	A	7: 13,450,939	L9*	probably null	Het
C6	T	G	15: 4,755,367	N238K	probably benign	Het
Cbs	T	C	17: 31,619,156	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,969,370	F191S	possibly damaging	Het
Cpz	A	G	5: 35,503,681	V530A	probably damaging	Het
Ctsc	G	T	7: 88,278,342	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,103,796	Y53S	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb4	T	C	8: 19,201,204	I29T	probably benign	Het
Disc1	A	T	8: 125,261,097		probably null	Het
Dnah2	A	G	11: 69,436,836	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,433,054	I3518N	possibly damaging	Het
Dnah8	A	T	17: 30,871,351	H4609L	probably damaging	Het
Evi5	C	A	5: 107,820,535	C182F	probably damaging	Het
Fam149b	G	A	14: 20,363,424	R237H	probably damaging	Het
Fut8	T	A	12: 77,393,762	D174E	possibly damaging	Het
Ghr	T	C	15: 3,341,098		probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm12794	T	C	4: 101,941,584	F251L	probably benign	Het
Gm8882	T	A	6: 132,364,058	Q17L	unknown	Het
Gm9573	A	G	17: 35,622,722		probably benign	Het
Gpr176	T	C	2: 118,279,708	S357G	probably benign	Het
Grwd1	A	T	7: 45,827,177		probably null	Het
H2-T24	A	G	17: 36,014,880	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,956,038		probably benign	Het
Herc3	A	G	6: 58,918,817	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 193,242,168		probably benign	Het
Igsf23	T	C	7: 19,941,753	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,617,906	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,198,359		probably null	Het
Kdm5b	A	G	1: 134,604,522	I479M	probably damaging	Het
Kidins220	A	G	12: 25,008,069	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,552,329	I216S	probably damaging	Het
Myo1g	A	G	11: 6,511,084		probably benign	Het
Nrxn3	T	C	12: 89,813,642		probably null	Het
Olfr706	A	G	7: 106,886,415	V134A	probably benign	Het
Olfr921	A	T	9: 38,775,239		probably null	Het
Olfr943	A	G	9: 39,184,684	I169V	probably benign	Het
Pdia5	A	T	16: 35,464,390	S66T	possibly damaging	Het
Plec	T	C	15: 76,178,006	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,282,180	A654S	probably benign	Het
Pnpla2	G	A	7: 141,459,520		probably null	Het
Prkdc	A	G	16: 15,736,799	D2128G	probably benign	Het
Rabggta	A	T	14: 55,720,811	L131Q	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Rnf139	A	G	15: 58,899,473	Y449C	probably damaging	Het
Sbno1	A	G	5: 124,386,868	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,557,301	N321I	probably damaging	Het
Slit3	T	A	11: 35,579,101	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,680,824	S627P	probably benign	Het
Stat2	T	A	10: 128,277,867	F172I	probably damaging	Het
Tchh	C	A	3: 93,445,616	R788S	unknown	Het
Tnks	T	A	8: 34,853,259	K753*	probably null	Het
Trank1	T	A	9: 111,365,353	V815D	probably benign	Het
Trank1	T	A	9: 111,392,940	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,343	S271P	probably damaging	Het
Trpm5	T	C	7: 143,086,876	Q213R	probably benign	Het
Ulk3	C	T	9: 57,594,227		probably benign	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,256,318	S181P	probably damaging	Het
Yipf3	T	C	17: 46,248,312	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,986,556	H1094Q	probably damaging	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
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
R6758:0610010F05Rik	UTSW	11	23588475	splice site	probably null
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'- AGCGATACCTAGTAGCCTTAACCCTTT -3'
(R):5'- CTCACTGTGACCTTGGCATGTACTT -3'

Sequencing Primer
(F):5'- TTCTCCCAGAACAAAGTATCGTTAC -3'
(R):5'- AGAACAGTTTGCCAAGTCTCTC -3'

Posted On

2013-04-16