Mutagenetix > Incidental Mutations

Incidental Mutation 'R5249:0610010F05Rik'

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398848

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

042820-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 23575483 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 719 (*719Q)

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
AA Change: *719Q

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: *719Q

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
AA Change: *573Q

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: *573Q

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
AA Change: *719Q

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: *719Q

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: 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
AA Change: *719Q

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: *719Q

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

Meta Mutation Damage Score

0.9241

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	A	3: 88,696,725	I283N	probably damaging	Het
A4gnt	A	G	9: 99,620,231	H148R	probably damaging	Het
Acrbp	A	G	6: 125,060,922	D394G	probably damaging	Het
Adam18	T	C	8: 24,625,852	T609A	probably benign	Het
Adam25	T	A	8: 40,755,954	N752K	probably benign	Het
Ano6	A	C	15: 95,913,588	S176R	probably benign	Het
Ano7	T	C	1: 93,375,196	S19P	probably benign	Het
Ap1b1	A	G	11: 5,026,364	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,265,637	C46*	probably null	Het
Arhgef26	T	A	3: 62,340,560	L355Q	probably damaging	Het
B4galnt4	C	T	7: 141,065,070	T219I	probably damaging	Het
Bap1	C	T	14: 31,257,286		probably benign	Het
Catip	T	G	1: 74,362,795	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,758,508	R331C	unknown	Het
Cep85l	T	C	10: 53,319,594		probably null	Het
Cfap206	T	A	4: 34,714,502	Q398L	probably benign	Het
Clec18a	A	G	8: 111,073,736	C352R	probably damaging	Het
Clic6	A	T	16: 92,539,451	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,293,073		probably benign	Het
Cyb5r3	A	C	15: 83,158,635		probably benign	Het
Dnah6	C	T	6: 73,113,488	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,902,440	R296L	probably damaging	Het
Dtwd1	C	A	2: 126,154,774	Q60K	probably benign	Het
Esyt1	C	A	10: 128,516,574	V723L	probably benign	Het
Fam71f1	A	G	6: 29,323,897	D207G	probably damaging	Het
Fbxo42	T	C	4: 141,199,024	L339P	probably damaging	Het
Furin	A	T	7: 80,393,421	N347K	probably damaging	Het
Fzd7	T	C	1: 59,483,363	M135T	probably damaging	Het
Hlf	A	G	11: 90,387,806	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,649	Q174*	probably null	Het
Kcnb1	T	A	2: 167,105,183	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692	Y391H	probably damaging	Het
Kif21b	C	T	1: 136,169,228	T1297M	probably damaging	Het
Krt8	T	G	15: 101,998,440	N317T	possibly damaging	Het
Lctl	G	T	9: 64,137,914	V372L	probably benign	Het
Lig1	C	T	7: 13,308,507	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,462,564	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,115,121	H10Y	probably benign	Het
Med1	A	T	11: 98,157,240	M910K	probably benign	Het
Mia2	A	T	12: 59,108,125	D209V	probably damaging	Het
Mpp4	C	T	1: 59,144,858		probably benign	Het
Mrgprb1	A	T	7: 48,447,477	V229E	possibly damaging	Het
Mtor	T	A	4: 148,463,732	C485S	probably damaging	Het
Mx1	T	C	16: 97,457,428	D23G	probably damaging	Het
Myrfl	T	C	10: 116,783,233	D740G	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nav2	G	A	7: 49,535,913	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,461,166	N262K	possibly damaging	Het
Olfr819	C	T	10: 129,966,209	A164T	probably benign	Het
Olfr916	A	G	9: 38,658,078	C105R	possibly damaging	Het
Opa1	A	T	16: 29,618,259	D699V	probably damaging	Het
Otud7a	A	G	7: 63,757,433	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,463,753	D53G	probably benign	Het
Pdcd5	A	G	7: 35,646,996		probably benign	Het
Phf21a	C	T	2: 92,228,477	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,779,144		probably benign	Het
Ptprq	T	C	10: 107,699,635	Q423R	probably damaging	Het
Pum1	A	T	4: 130,762,814	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,213,000	D415G	probably benign	Het
Rapgef6	A	G	11: 54,523,117	E23G	probably benign	Het
Rpia	G	T	6: 70,783,579	C121*	probably null	Het
Serpinb13	T	A	1: 106,998,697	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,137,734	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,162,065		probably benign	Het
Slamf6	A	C	1: 171,936,682	N214T	probably damaging	Het
Slc7a2	T	C	8: 40,908,093	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,671,178		probably null	Het
Spink7	A	T	18: 62,592,436	F79I	possibly damaging	Het
Srpk3	C	T	X: 73,774,949	R82*	probably null	Het
Sspo	A	T	6: 48,493,310	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,676,859	K700R	probably benign	Het
Tcf25	G	T	8: 123,388,633	R203L	probably damaging	Het
Tcp11	T	C	17: 28,071,783	I201V	possibly damaging	Het
Tex2	T	C	11: 106,546,789	D685G	unknown	Het
Themis	G	T	10: 28,761,199	E100*	probably null	Het
Tmem52b	G	A	6: 129,514,258		probably null	Het
Tnr	C	T	1: 159,684,656		probably benign	Het
Tox3	T	C	8: 90,248,816	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828	E269V	probably benign	Het
Tulp1	C	T	17: 28,362,677		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ube2j2	A	C	4: 155,949,058	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,492,608	M1K	probably null	Het
Vmn2r52	C	A	7: 10,176,270	R6L	probably benign	Het
Zbed4	G	A	15: 88,781,087	V453M	probably benign	Het
Zfp319	T	C	8: 95,328,471	E368G	probably benign	Het
Zfp366	A	C	13: 99,229,609	E426A	probably damaging	Het
Zfp687	A	T	3: 95,009,466	I783N	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
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
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'- TGCAATTATCTCCTACACAGCC -3'
(R):5'- TCTCACTCCAGGGGTTTTAGAAG -3'

Sequencing Primer
(F):5'- TCTCCTACACAGCCTAGAATTATAC -3'
(R):5'- ACTCCAGGGGTTTTAGAAGATTCATG -3'

Posted On

2016-07-06