Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:Dopey1'

309752

Institutional Source

Beutler Lab

Gene Symbol

Dopey1

Ensembl Gene

ENSMUSG00000034973

Gene Name

dopey family member 1

Synonyms

B130005I07Rik, D9Ertd809e

Accession Numbers

Genbank: NM_177208; MGI: 1289294

Is this an essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86467154-86555923 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86521133 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1462 (R1462H)

Ref Sequence

ENSEMBL: ENSMUSP00000140740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034987] [ENSMUST00000185297] [ENSMUST00000185919] [ENSMUST00000190957]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034987
AA Change: R1462H

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

SMART Domains

Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
AA Change: R1462H

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	11	300	1e-117	PFAM
low complexity region	631	649	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1073	1084	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
low complexity region	1268	1281	N/A	INTRINSIC
low complexity region	1296	1318	N/A	INTRINSIC
low complexity region	1335	1344	N/A	INTRINSIC
low complexity region	1362	1373	N/A	INTRINSIC
low complexity region	1575	1589	N/A	INTRINSIC
low complexity region	2217	2227	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185297

SMART Domains

Protein: ENSMUSP00000140258
Gene: ENSMUSG00000034973

Domain	Start	End	E-Value	Type
low complexity region	111	125	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185919
AA Change: R1460H

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

SMART Domains

Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
AA Change: R1460H

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	10	306	1.9e-106	PFAM
low complexity region	629	647	N/A	INTRINSIC
low complexity region	959	971	N/A	INTRINSIC
low complexity region	1071	1082	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
low complexity region	1294	1316	N/A	INTRINSIC
low complexity region	1333	1342	N/A	INTRINSIC
low complexity region	1360	1371	N/A	INTRINSIC
low complexity region	1573	1587	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187348

Predicted Effect

probably damaging
Transcript: ENSMUST00000190957
AA Change: R1462H

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

SMART Domains

Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
AA Change: R1462H

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	10	305	1.3e-108	PFAM
low complexity region	631	649	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1073	1084	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
low complexity region	1268	1281	N/A	INTRINSIC
low complexity region	1296	1318	N/A	INTRINSIC
low complexity region	1335	1344	N/A	INTRINSIC
low complexity region	1362	1373	N/A	INTRINSIC
low complexity region	1575	1589	N/A	INTRINSIC
low complexity region	2217	2227	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC

Meta Mutation Damage Score

0.2417

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Dopey1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Dopey1	APN	9	86551679	missense	possibly damaging	0.57
IGL00427:Dopey1	APN	9	86521500	missense	probably benign	0.09
IGL00427:Dopey1	APN	9	86521498	missense	possibly damaging	0.93
IGL00427:Dopey1	APN	9	86521499	missense	probably damaging	0.96
IGL00577:Dopey1	APN	9	86520946	missense	probably damaging	1.00
IGL00741:Dopey1	APN	9	86522806	missense	possibly damaging	0.50
IGL00959:Dopey1	APN	9	86487431	missense	probably damaging	1.00
IGL01339:Dopey1	APN	9	86551677	missense	possibly damaging	0.90
IGL01608:Dopey1	APN	9	86507561	missense	probably benign	0.23
IGL01760:Dopey1	APN	9	86519923	missense	probably benign
IGL01788:Dopey1	APN	9	86531719	missense	probably benign	0.03
IGL01844:Dopey1	APN	9	86514085	missense	probably damaging	1.00
IGL01923:Dopey1	APN	9	86522867	missense	probably damaging	1.00
IGL02036:Dopey1	APN	9	86531765	missense	probably benign	0.18
IGL02308:Dopey1	APN	9	86520088	missense	probably damaging	0.98
IGL02494:Dopey1	APN	9	86526818	missense	probably damaging	1.00
IGL02698:Dopey1	APN	9	86524359	splice site	probably benign
IGL02731:Dopey1	APN	9	86487381	missense	probably damaging	1.00
IGL02821:Dopey1	APN	9	86520156	missense	probably benign
IGL02952:Dopey1	APN	9	86532922	splice site	probably benign
IGL03071:Dopey1	APN	9	86489615	missense	possibly damaging	0.91
IGL03271:Dopey1	APN	9	86504222	nonsense	probably null
IGL03344:Dopey1	APN	9	86536144	missense	probably damaging	1.00
Beg	UTSW	9	86548172	nonsense	probably null
groak	UTSW	9	86521657	missense	probably damaging	1.00
R0055:Dopey1	UTSW	9	86512652	missense	probably benign	0.08
R0285:Dopey1	UTSW	9	86512639	missense	probably damaging	1.00
R0415:Dopey1	UTSW	9	86506502	missense	probably damaging	1.00
R0427:Dopey1	UTSW	9	86507532	missense	probably damaging	1.00
R0514:Dopey1	UTSW	9	86520734	missense	probably damaging	1.00
R0538:Dopey1	UTSW	9	86485497	missense	probably damaging	1.00
R1118:Dopey1	UTSW	9	86515406	missense	probably damaging	1.00
R1158:Dopey1	UTSW	9	86485556	missense	probably damaging	1.00
R1272:Dopey1	UTSW	9	86521424	missense	probably damaging	1.00
R1448:Dopey1	UTSW	9	86542732	splice site	probably null
R1584:Dopey1	UTSW	9	86548172	nonsense	probably null
R1601:Dopey1	UTSW	9	86536250	missense	probably damaging	0.99
R1674:Dopey1	UTSW	9	86536160	missense	probably damaging	0.98
R1706:Dopey1	UTSW	9	86554080	missense	possibly damaging	0.92
R1856:Dopey1	UTSW	9	86492004	missense	probably damaging	0.99
R1926:Dopey1	UTSW	9	86523019	missense	probably damaging	1.00
R1929:Dopey1	UTSW	9	86494418	missense	probably damaging	1.00
R2029:Dopey1	UTSW	9	86521365	missense	probably damaging	1.00
R2125:Dopey1	UTSW	9	86521046	missense	probably damaging	1.00
R2206:Dopey1	UTSW	9	86521599	missense	probably benign	0.00
R2271:Dopey1	UTSW	9	86494418	missense	probably damaging	1.00
R2312:Dopey1	UTSW	9	86521442	nonsense	probably null
R2379:Dopey1	UTSW	9	86521085	missense	probably damaging	1.00
R2507:Dopey1	UTSW	9	86513117	missense	probably damaging	1.00
R3737:Dopey1	UTSW	9	86494433	missense	probably damaging	1.00
R3804:Dopey1	UTSW	9	86520995	missense	probably damaging	1.00
R3921:Dopey1	UTSW	9	86520271	missense	probably benign	0.06
R4035:Dopey1	UTSW	9	86494433	missense	probably damaging	1.00
R4392:Dopey1	UTSW	9	86503143	intron	probably benign
R4404:Dopey1	UTSW	9	86522813	nonsense	probably null
R4513:Dopey1	UTSW	9	86520559	missense	probably benign	0.39
R4624:Dopey1	UTSW	9	86521525	missense	probably damaging	1.00
R4659:Dopey1	UTSW	9	86502032	intron	probably benign
R4910:Dopey1	UTSW	9	86492061	missense	probably damaging	1.00
R4919:Dopey1	UTSW	9	86520056	missense	possibly damaging	0.47
R5061:Dopey1	UTSW	9	86503108	splice site	probably benign
R5079:Dopey1	UTSW	9	86487421	missense	probably damaging	1.00
R5118:Dopey1	UTSW	9	86506259	missense	probably damaging	1.00
R5169:Dopey1	UTSW	9	86533021	missense	probably damaging	1.00
R5176:Dopey1	UTSW	9	86521815	missense	probably damaging	1.00
R5190:Dopey1	UTSW	9	86487304	missense	probably damaging	1.00
R5256:Dopey1	UTSW	9	86515328	missense	probably damaging	1.00
R5346:Dopey1	UTSW	9	86520782	missense	probably damaging	1.00
R5484:Dopey1	UTSW	9	86545288	missense	probably damaging	1.00
R5501:Dopey1	UTSW	9	86507730	missense	probably benign	0.04
R5554:Dopey1	UTSW	9	86521657	missense	probably damaging	1.00
R5707:Dopey1	UTSW	9	86502997	missense	possibly damaging	0.95
R5826:Dopey1	UTSW	9	86507570	missense	possibly damaging	0.94
R5921:Dopey1	UTSW	9	86501922	missense	probably damaging	1.00
R5934:Dopey1	UTSW	9	86542442	nonsense	probably null
R5936:Dopey1	UTSW	9	86536512	nonsense	probably null
R6046:Dopey1	UTSW	9	86515343	missense	probably damaging	1.00
R6053:Dopey1	UTSW	9	86515294	missense	possibly damaging	0.95
R6072:Dopey1	UTSW	9	86507697	missense	probably benign	0.00
R6104:Dopey1	UTSW	9	86520807	missense	possibly damaging	0.86
R6125:Dopey1	UTSW	9	86521133	missense	probably damaging	1.00
R6299:Dopey1	UTSW	9	86504212	missense	probably damaging	1.00
R6930:Dopey1	UTSW	9	86531772	critical splice donor site	probably null
R6949:Dopey1	UTSW	9	86500860	missense	probably damaging	1.00
R6979:Dopey1	UTSW	9	86521642	missense	possibly damaging	0.77
R7035:Dopey1	UTSW	9	86524302	missense	possibly damaging	0.85
R7069:Dopey1	UTSW	9	86550169	critical splice donor site	probably null
R7101:Dopey1	UTSW	9	86507669	missense	probably benign
R7202:Dopey1	UTSW	9	86504167	splice site	probably null
R7222:Dopey1	UTSW	9	86522876	critical splice donor site	probably null
R7233:Dopey1	UTSW	9	86521696	missense	probably benign	0.00
R7236:Dopey1	UTSW	9	86515378	missense	probably damaging	1.00
R7252:Dopey1	UTSW	9	86500821	missense	probably damaging	1.00
R7268:Dopey1	UTSW	9	86512777	nonsense	probably null
R7353:Dopey1	UTSW	9	86512859	missense	probably damaging	0.99
R7481:Dopey1	UTSW	9	86535932	missense	probably damaging	1.00
R7498:Dopey1	UTSW	9	86494411	missense	possibly damaging	0.95
R7507:Dopey1	UTSW	9	86535949	missense	probably benign	0.01
R7525:Dopey1	UTSW	9	86506290	missense	probably damaging	1.00
R7539:Dopey1	UTSW	9	86521573	missense	probably benign	0.03
R7751:Dopey1	UTSW	9	86507730	missense	probably benign	0.00
R7753:Dopey1	UTSW	9	86489702	missense	possibly damaging	0.52
R7839:Dopey1	UTSW	9	86542765	nonsense	probably null
R7868:Dopey1	UTSW	9	86501984	critical splice donor site	probably null
R8061:Dopey1	UTSW	9	86521193	missense	possibly damaging	0.95
R8067:Dopey1	UTSW	9	86518339	missense	probably benign	0.00
R8156:Dopey1	UTSW	9	86494457	missense	probably damaging	1.00
R8196:Dopey1	UTSW	9	86523098	missense	probably benign	0.12
R8223:Dopey1	UTSW	9	86518292	missense	probably damaging	1.00
R8267:Dopey1	UTSW	9	86514001	missense	possibly damaging	0.81
R8276:Dopey1	UTSW	9	86517039	missense	probably benign
R8306:Dopey1	UTSW	9	86520206	missense	possibly damaging	0.94
R8353:Dopey1	UTSW	9	86521586	missense	probably damaging	0.97
R8362:Dopey1	UTSW	9	86513888	missense	probably benign	0.02
R8403:Dopey1	UTSW	9	86500872	missense	probably damaging	1.00
R8817:Dopey1	UTSW	9	86513950	missense	possibly damaging	0.91
R8862:Dopey1	UTSW	9	86524351	critical splice donor site	probably null
R8888:Dopey1	UTSW	9	86521534	missense	probably benign
R8972:Dopey1	UTSW	9	86521247	missense	possibly damaging	0.50
R9001:Dopey1	UTSW	9	86554321	makesense	probably null
R9011:Dopey1	UTSW	9	86515343	missense	probably damaging	1.00
R9021:Dopey1	UTSW	9	86520437	missense	probably benign	0.35
R9039:Dopey1	UTSW	9	86500817	missense	probably damaging	0.99
R9128:Dopey1	UTSW	9	86513155	missense	probably benign
RF004:Dopey1	UTSW	9	86554191	missense	probably benign
X0019:Dopey1	UTSW	9	86506227	missense	probably damaging	1.00
X0019:Dopey1	UTSW	9	86531750	missense	probably damaging	0.98
ZE80:Dopey1	UTSW	9	86500842	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCCATTGCTTTTGTAAACG -3'
(R):5'- CGCTGAAGATAGACGACAGC -3'

Sequencing Primer
(F):5'- GCTTTTGTAAACGCCATTTCAAC -3'
(R):5'- CTGAACTTTGCACTTAGACAGC -3'

Posted On

2015-04-17