Mutagenetix > Incidental Mutation

Incidental Mutation 'R6860:0610010F05Rik'

535452

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23625100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000131612] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043356
AA Change: L58P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: L58P

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 damaging
Transcript: ENSMUST00000109532
AA Change: L58P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: L58P

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: ENSMUST00000131612

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 damaging
Transcript: ENSMUST00000155903
AA Change: L58P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: L58P

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 damaging
Transcript: ENSMUST00000180260
AA Change: L58P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: L58P

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,189,586	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,157,622	V28L	possibly damaging	Het
Abtb2	C	T	2: 103,709,425	R712*	probably null	Het
Acvr1c	C	T	2: 58,287,705	G171S	probably damaging	Het
Ahctf1	G	T	1: 179,753,288	A1783E	probably benign	Het
Anapc4	A	T	5: 52,848,828	Q149L	probably damaging	Het
Ankrd27	T	C	7: 35,628,527	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,831,586	C577S	probably benign	Het
Apol7c	T	C	15: 77,526,074	N224S	probably benign	Het
Arl14	A	T	3: 69,222,696	T59S	probably benign	Het
Astn1	T	A	1: 158,612,472	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796	V335E	probably benign	Het
C2cd3	C	T	7: 100,390,241	P216S	probably benign	Het
Cchcr1	C	A	17: 35,529,118	N711K	possibly damaging	Het
Chd2	A	G	7: 73,497,810	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,861,946	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,053,598	L286H	probably damaging	Het
Cwc22	C	T	2: 77,929,448	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587	F209V	probably damaging	Het
Dmtn	T	C	14: 70,614,882	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,678,266	N777K	probably benign	Het
Dusp16	A	T	6: 134,725,879	C216*	probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,328,158	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,383,962	S306P	probably benign	Het
Ferd3l	T	C	12: 33,928,652	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,624,298	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,820,879	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,167,988		probably benign	Het
Hcn3	A	C	3: 89,159,845	I72S	possibly damaging	Het
Hist1h3f	G	T	13: 23,544,590	V36L	probably benign	Het
Hk3	T	A	13: 55,014,465	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,738	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,622,053	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,720	G51D	probably benign	Het
Kif26a	C	A	12: 112,146,829	A53D	probably damaging	Het
Lifr	T	A	15: 7,172,937	I353K	probably benign	Het
Llph	A	T	10: 120,231,284	N102I	probably damaging	Het
Lmo3	C	A	6: 138,416,568	R18L	possibly damaging	Het
Lrrc46	T	C	11: 97,035,545	E175G	probably benign	Het
Ltk	A	T	2: 119,754,594	C128*	probably null	Het
Map1b	T	C	13: 99,434,767	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,460,452	V740A	probably damaging	Het
Miga2	T	C	2: 30,371,163	W157R	probably benign	Het
Mlip	A	G	9: 77,102,393	*837Q	probably null	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,945,058		probably benign	Het
Olfr365	T	C	2: 37,202,177	L312P	possibly damaging	Het
Olfr448	T	C	6: 42,896,816	Y122H	probably benign	Het
Olfr613	A	G	7: 103,551,868	I28V	probably benign	Het
P3h3	A	T	6: 124,857,368	V107D	probably benign	Het
Papolb	A	T	5: 142,528,896	S331T	possibly damaging	Het
Pars2	T	G	4: 106,654,503	V494G	probably benign	Het
Pcdhb3	C	A	18: 37,301,710	T243K	probably benign	Het
Pde9a	T	A	17: 31,470,724	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,992,148	A201T	probably benign	Het
Prl	A	G	13: 27,064,959	N197S	possibly damaging	Het
Prl2c1	T	A	13: 27,851,741	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,738	S572G	possibly damaging	Het
Psd	T	A	19: 46,322,419	D397V	probably damaging	Het
Psme2b	A	T	11: 48,945,480	Y213*	probably null	Het
Ptcd3	T	A	6: 71,897,110		probably null	Het
Ptprk	T	G	10: 28,334,484	F167L	probably damaging	Het
Rfx7	T	C	9: 72,616,944	V472A	probably damaging	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Sec16a	T	C	2: 26,430,112	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,634,446	S155N	probably benign	Het
Slc3a2	A	T	19: 8,713,632	V78E	probably damaging	Het
Slc44a4	T	A	17: 34,921,068	L23Q	probably damaging	Het
Slco5a1	C	T	1: 12,881,196		probably benign	Het
Slit1	A	G	19: 41,616,715	M899T	probably benign	Het
Sorl1	A	G	9: 42,022,392	I1094T	probably benign	Het
Spag9	T	A	11: 94,081,370	L258Q	probably benign	Het
Strip1	T	C	3: 107,618,936	E488G	possibly damaging	Het
Stx18	G	A	5: 38,104,891	D30N	possibly damaging	Het
Sync	T	C	4: 129,287,790		probably null	Het
Syncrip	A	G	9: 88,476,796	V220A	probably damaging	Het
Tagln2	T	C	1: 172,505,909	I110T	probably benign	Het
Taok1	T	C	11: 77,541,801	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,067,599	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,017,066	T24A	probably benign	Het
Tnxb	T	A	17: 34,713,157	D2221E	probably damaging	Het
Triml1	A	G	8: 43,130,566	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,199,113	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,418,292	I737S	possibly damaging	Het
U2af2	A	T	7: 5,079,274	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631	N86K	probably damaging	Het
Uso1	A	G	5: 92,195,348	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,187,952	M33L	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
R6758:0610010F05Rik	UTSW	11	23588475	splice site	probably null
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
R8677:0610010F05Rik	UTSW	11	23595471	missense	probably benign	0.24
R9165:0610010F05Rik	UTSW	11	23615244	missense	probably benign	0.00
R9175:0610010F05Rik	UTSW	11	23584518	critical splice donor site	probably null
R9526:0610010F05Rik	UTSW	11	23609098	missense	probably damaging	1.00
R9583:0610010F05Rik	UTSW	11	23581642	missense	possibly damaging	0.69
R9622:0610010F05Rik	UTSW	11	23584590	missense	probably damaging	0.99
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'- ATAACCTTACCTGCTTTAGAAACTG -3'
(R):5'- TCCTATCAGGTCACTCAACAATATATC -3'

Sequencing Primer
(F):5'- CTGTATCTTGATCAACAGGAGTCTC -3'
(R):5'- CATTCATGATTACTTAATGGTTACTC -3'

Posted On

2018-09-12