Mutagenetix > Incidental Mutation

Incidental Mutation 'R8267:Dop1a'

639590

Institutional Source

Beutler Lab

Gene Symbol

Dop1a

Ensembl Gene

ENSMUSG00000034973

Gene Name

DOP1 leucine zipper like protein A

Synonyms

D9Ertd809e, B130005I07Rik, Dopey1

MMRRC Submission

067651-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R8267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86349194-86436683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86396054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 839 (P839S)

Ref Sequence

ENSEMBL: ENSMUSP00000034987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034987] [ENSMUST00000185919] [ENSMUST00000188675] [ENSMUST00000190957]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034987
AA Change: P839S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
AA Change: P839S

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

possibly damaging
Transcript: ENSMUST00000185919
AA Change: P837S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
AA Change: P837S

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

probably benign
Transcript: ENSMUST00000188675

SMART Domains

Protein: ENSMUSP00000139413
Gene: ENSMUSG00000034973

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	10	306	3e-106	PFAM
low complexity region	622	640	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190957
AA Change: P839S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
AA Change: P839S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Acbd3	A	G	1: 180,574,413 (GRCm39)	D379G	probably damaging	Het
Akp3	A	T	1: 87,055,461 (GRCm39)	T503S	unknown	Het
Antxr2	T	A	5: 98,113,621 (GRCm39)		probably null	Het
Col9a1	A	T	1: 24,224,267 (GRCm39)	T150S	unknown	Het
Coro1c	T	C	5: 113,985,636 (GRCm39)	D287G	probably damaging	Het
Cox16	T	C	12: 81,527,713 (GRCm39)	T45A	probably benign	Het
Cux1	A	G	5: 136,311,853 (GRCm39)	L1161P	probably damaging	Het
Dock10	T	C	1: 80,518,045 (GRCm39)	T1311A	probably benign	Het
Ehbp1	T	A	11: 22,096,562 (GRCm39)	D334V	probably benign	Het
H2-T15	A	G	17: 36,367,675 (GRCm39)	V221A	possibly damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hmcn1	A	G	1: 150,735,005 (GRCm39)	F169S	probably damaging	Het
Hmcn2	A	G	2: 31,349,191 (GRCm39)	T4977A	probably benign	Het
Kcnq5	A	T	1: 21,575,609 (GRCm39)	I279N	probably damaging	Het
Lnx2	A	T	5: 146,965,901 (GRCm39)	I406N	probably damaging	Het
Mdn1	T	C	4: 32,742,485 (GRCm39)	Y3908H	possibly damaging	Het
Nme7	A	G	1: 164,168,344 (GRCm39)	I128V	probably benign	Het
Optn	T	C	2: 5,059,462 (GRCm39)	T19A	probably benign	Het
Or10g1b	A	G	14: 52,627,903 (GRCm39)	F109S	probably damaging	Het
Or4k37	A	G	2: 111,159,160 (GRCm39)	Y132C	probably benign	Het
Pmch	A	T	10: 87,926,979 (GRCm39)		probably benign	Het
Rbms3	T	C	9: 116,885,823 (GRCm39)	N141D	possibly damaging	Het
Reln	A	G	5: 22,209,110 (GRCm39)	L1156P	probably damaging	Het
Rgs6	A	C	12: 82,698,669 (GRCm39)	M23L	probably benign	Het
Sh3tc1	T	C	5: 35,863,751 (GRCm39)	Y812C	probably benign	Het
Smap1	T	A	1: 23,905,365 (GRCm39)	K143I	probably damaging	Het
Thbs1	A	T	2: 117,952,994 (GRCm39)	H868L	probably damaging	Het
Tnip3	T	G	6: 65,582,826 (GRCm39)	V140G	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,752 (GRCm39)	C375*	probably null	Het
Vmn2r19	T	C	6: 123,313,221 (GRCm39)	S764P	possibly damaging	Het
Vmn2r22	T	C	6: 123,615,000 (GRCm39)	T197A	possibly damaging	Het
Vmn2r59	T	G	7: 41,661,521 (GRCm39)	T765P	probably damaging	Het
Vmn2r71	A	G	7: 85,264,704 (GRCm39)	K12R	probably benign	Het
Vps41	T	C	13: 18,994,641 (GRCm39)	S163P	probably benign	Het
Wdr97	C	T	15: 76,240,794 (GRCm39)	A494V		Het
Zfp382	G	C	7: 29,833,929 (GRCm39)	G527R	probably damaging	Het

Other mutations in Dop1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Dop1a	APN	9	86,433,732 (GRCm39)	missense	possibly damaging	0.57
IGL00427:Dop1a	APN	9	86,403,552 (GRCm39)	missense	probably damaging	0.96
IGL00427:Dop1a	APN	9	86,403,551 (GRCm39)	missense	possibly damaging	0.93
IGL00427:Dop1a	APN	9	86,403,553 (GRCm39)	missense	probably benign	0.09
IGL00577:Dop1a	APN	9	86,402,999 (GRCm39)	missense	probably damaging	1.00
IGL00741:Dop1a	APN	9	86,404,859 (GRCm39)	missense	possibly damaging	0.50
IGL00959:Dop1a	APN	9	86,369,484 (GRCm39)	missense	probably damaging	1.00
IGL01339:Dop1a	APN	9	86,433,730 (GRCm39)	missense	possibly damaging	0.90
IGL01608:Dop1a	APN	9	86,389,614 (GRCm39)	missense	probably benign	0.23
IGL01760:Dop1a	APN	9	86,401,976 (GRCm39)	missense	probably benign
IGL01788:Dop1a	APN	9	86,413,772 (GRCm39)	missense	probably benign	0.03
IGL01844:Dop1a	APN	9	86,396,138 (GRCm39)	missense	probably damaging	1.00
IGL01923:Dop1a	APN	9	86,404,920 (GRCm39)	missense	probably damaging	1.00
IGL02036:Dop1a	APN	9	86,413,818 (GRCm39)	missense	probably benign	0.18
IGL02308:Dop1a	APN	9	86,402,141 (GRCm39)	missense	probably damaging	0.98
IGL02494:Dop1a	APN	9	86,408,871 (GRCm39)	missense	probably damaging	1.00
IGL02698:Dop1a	APN	9	86,406,412 (GRCm39)	splice site	probably benign
IGL02731:Dop1a	APN	9	86,369,434 (GRCm39)	missense	probably damaging	1.00
IGL02821:Dop1a	APN	9	86,402,209 (GRCm39)	missense	probably benign
IGL02952:Dop1a	APN	9	86,414,975 (GRCm39)	splice site	probably benign
IGL03071:Dop1a	APN	9	86,371,668 (GRCm39)	missense	possibly damaging	0.91
IGL03271:Dop1a	APN	9	86,386,275 (GRCm39)	nonsense	probably null
IGL03344:Dop1a	APN	9	86,418,197 (GRCm39)	missense	probably damaging	1.00
Beg	UTSW	9	86,430,225 (GRCm39)	nonsense	probably null
covet	UTSW	9	86,397,396 (GRCm39)	missense	probably damaging	1.00
crave	UTSW	9	86,399,092 (GRCm39)	missense	probably benign
desire	UTSW	9	86,402,109 (GRCm39)	missense	possibly damaging	0.47
groak	UTSW	9	86,403,710 (GRCm39)	missense	probably damaging	1.00
Querer	UTSW	9	86,386,265 (GRCm39)	missense	probably damaging	1.00
yearn	UTSW	9	86,386,220 (GRCm39)	splice site	probably null
R0055:Dop1a	UTSW	9	86,394,705 (GRCm39)	missense	probably benign	0.08
R0285:Dop1a	UTSW	9	86,394,692 (GRCm39)	missense	probably damaging	1.00
R0415:Dop1a	UTSW	9	86,388,555 (GRCm39)	missense	probably damaging	1.00
R0427:Dop1a	UTSW	9	86,389,585 (GRCm39)	missense	probably damaging	1.00
R0514:Dop1a	UTSW	9	86,402,787 (GRCm39)	missense	probably damaging	1.00
R0538:Dop1a	UTSW	9	86,367,550 (GRCm39)	missense	probably damaging	1.00
R1118:Dop1a	UTSW	9	86,397,459 (GRCm39)	missense	probably damaging	1.00
R1158:Dop1a	UTSW	9	86,367,609 (GRCm39)	missense	probably damaging	1.00
R1272:Dop1a	UTSW	9	86,403,477 (GRCm39)	missense	probably damaging	1.00
R1448:Dop1a	UTSW	9	86,424,785 (GRCm39)	splice site	probably null
R1584:Dop1a	UTSW	9	86,430,225 (GRCm39)	nonsense	probably null
R1601:Dop1a	UTSW	9	86,418,303 (GRCm39)	missense	probably damaging	0.99
R1674:Dop1a	UTSW	9	86,418,213 (GRCm39)	missense	probably damaging	0.98
R1706:Dop1a	UTSW	9	86,436,133 (GRCm39)	missense	possibly damaging	0.92
R1856:Dop1a	UTSW	9	86,374,057 (GRCm39)	missense	probably damaging	0.99
R1926:Dop1a	UTSW	9	86,405,072 (GRCm39)	missense	probably damaging	1.00
R1929:Dop1a	UTSW	9	86,376,471 (GRCm39)	missense	probably damaging	1.00
R2029:Dop1a	UTSW	9	86,403,418 (GRCm39)	missense	probably damaging	1.00
R2125:Dop1a	UTSW	9	86,403,099 (GRCm39)	missense	probably damaging	1.00
R2206:Dop1a	UTSW	9	86,403,652 (GRCm39)	missense	probably benign	0.00
R2271:Dop1a	UTSW	9	86,376,471 (GRCm39)	missense	probably damaging	1.00
R2312:Dop1a	UTSW	9	86,403,495 (GRCm39)	nonsense	probably null
R2379:Dop1a	UTSW	9	86,403,138 (GRCm39)	missense	probably damaging	1.00
R2507:Dop1a	UTSW	9	86,395,170 (GRCm39)	missense	probably damaging	1.00
R3737:Dop1a	UTSW	9	86,376,486 (GRCm39)	missense	probably damaging	1.00
R3804:Dop1a	UTSW	9	86,403,048 (GRCm39)	missense	probably damaging	1.00
R3916:Dop1a	UTSW	9	86,403,186 (GRCm39)	missense	probably damaging	1.00
R3921:Dop1a	UTSW	9	86,402,324 (GRCm39)	missense	probably benign	0.06
R4035:Dop1a	UTSW	9	86,376,486 (GRCm39)	missense	probably damaging	1.00
R4392:Dop1a	UTSW	9	86,385,196 (GRCm39)	intron	probably benign
R4404:Dop1a	UTSW	9	86,404,866 (GRCm39)	nonsense	probably null
R4513:Dop1a	UTSW	9	86,402,612 (GRCm39)	missense	probably benign	0.39
R4624:Dop1a	UTSW	9	86,403,578 (GRCm39)	missense	probably damaging	1.00
R4659:Dop1a	UTSW	9	86,384,085 (GRCm39)	intron	probably benign
R4910:Dop1a	UTSW	9	86,374,114 (GRCm39)	missense	probably damaging	1.00
R4919:Dop1a	UTSW	9	86,402,109 (GRCm39)	missense	possibly damaging	0.47
R5061:Dop1a	UTSW	9	86,385,161 (GRCm39)	splice site	probably benign
R5079:Dop1a	UTSW	9	86,369,474 (GRCm39)	missense	probably damaging	1.00
R5118:Dop1a	UTSW	9	86,388,312 (GRCm39)	missense	probably damaging	1.00
R5169:Dop1a	UTSW	9	86,415,074 (GRCm39)	missense	probably damaging	1.00
R5176:Dop1a	UTSW	9	86,403,868 (GRCm39)	missense	probably damaging	1.00
R5190:Dop1a	UTSW	9	86,369,357 (GRCm39)	missense	probably damaging	1.00
R5256:Dop1a	UTSW	9	86,397,381 (GRCm39)	missense	probably damaging	1.00
R5346:Dop1a	UTSW	9	86,402,835 (GRCm39)	missense	probably damaging	1.00
R5484:Dop1a	UTSW	9	86,427,341 (GRCm39)	missense	probably damaging	1.00
R5501:Dop1a	UTSW	9	86,389,783 (GRCm39)	missense	probably benign	0.04
R5554:Dop1a	UTSW	9	86,403,710 (GRCm39)	missense	probably damaging	1.00
R5707:Dop1a	UTSW	9	86,385,050 (GRCm39)	missense	possibly damaging	0.95
R5826:Dop1a	UTSW	9	86,389,623 (GRCm39)	missense	possibly damaging	0.94
R5921:Dop1a	UTSW	9	86,383,975 (GRCm39)	missense	probably damaging	1.00
R5934:Dop1a	UTSW	9	86,424,495 (GRCm39)	nonsense	probably null
R5936:Dop1a	UTSW	9	86,418,565 (GRCm39)	nonsense	probably null
R6046:Dop1a	UTSW	9	86,397,396 (GRCm39)	missense	probably damaging	1.00
R6053:Dop1a	UTSW	9	86,397,347 (GRCm39)	missense	possibly damaging	0.95
R6072:Dop1a	UTSW	9	86,389,750 (GRCm39)	missense	probably benign	0.00
R6104:Dop1a	UTSW	9	86,402,860 (GRCm39)	missense	possibly damaging	0.86
R6125:Dop1a	UTSW	9	86,403,186 (GRCm39)	missense	probably damaging	1.00
R6299:Dop1a	UTSW	9	86,386,265 (GRCm39)	missense	probably damaging	1.00
R6930:Dop1a	UTSW	9	86,413,825 (GRCm39)	critical splice donor site	probably null
R6949:Dop1a	UTSW	9	86,382,913 (GRCm39)	missense	probably damaging	1.00
R6979:Dop1a	UTSW	9	86,403,695 (GRCm39)	missense	possibly damaging	0.77
R7035:Dop1a	UTSW	9	86,406,355 (GRCm39)	missense	possibly damaging	0.85
R7069:Dop1a	UTSW	9	86,432,222 (GRCm39)	critical splice donor site	probably null
R7101:Dop1a	UTSW	9	86,389,722 (GRCm39)	missense	probably benign
R7202:Dop1a	UTSW	9	86,386,220 (GRCm39)	splice site	probably null
R7222:Dop1a	UTSW	9	86,404,929 (GRCm39)	critical splice donor site	probably null
R7233:Dop1a	UTSW	9	86,403,749 (GRCm39)	missense	probably benign	0.00
R7236:Dop1a	UTSW	9	86,397,431 (GRCm39)	missense	probably damaging	1.00
R7252:Dop1a	UTSW	9	86,382,874 (GRCm39)	missense	probably damaging	1.00
R7268:Dop1a	UTSW	9	86,394,830 (GRCm39)	nonsense	probably null
R7353:Dop1a	UTSW	9	86,394,912 (GRCm39)	missense	probably damaging	0.99
R7481:Dop1a	UTSW	9	86,417,985 (GRCm39)	missense	probably damaging	1.00
R7498:Dop1a	UTSW	9	86,376,464 (GRCm39)	missense	possibly damaging	0.95
R7507:Dop1a	UTSW	9	86,418,002 (GRCm39)	missense	probably benign	0.01
R7525:Dop1a	UTSW	9	86,388,343 (GRCm39)	missense	probably damaging	1.00
R7539:Dop1a	UTSW	9	86,403,626 (GRCm39)	missense	probably benign	0.03
R7751:Dop1a	UTSW	9	86,389,783 (GRCm39)	missense	probably benign	0.00
R7753:Dop1a	UTSW	9	86,371,755 (GRCm39)	missense	possibly damaging	0.52
R7839:Dop1a	UTSW	9	86,424,818 (GRCm39)	nonsense	probably null
R7868:Dop1a	UTSW	9	86,384,037 (GRCm39)	critical splice donor site	probably null
R8061:Dop1a	UTSW	9	86,403,246 (GRCm39)	missense	possibly damaging	0.95
R8067:Dop1a	UTSW	9	86,400,392 (GRCm39)	missense	probably benign	0.00
R8156:Dop1a	UTSW	9	86,376,510 (GRCm39)	missense	probably damaging	1.00
R8196:Dop1a	UTSW	9	86,405,151 (GRCm39)	missense	probably benign	0.12
R8223:Dop1a	UTSW	9	86,400,345 (GRCm39)	missense	probably damaging	1.00
R8276:Dop1a	UTSW	9	86,399,092 (GRCm39)	missense	probably benign
R8306:Dop1a	UTSW	9	86,402,259 (GRCm39)	missense	possibly damaging	0.94
R8353:Dop1a	UTSW	9	86,403,639 (GRCm39)	missense	probably damaging	0.97
R8362:Dop1a	UTSW	9	86,395,941 (GRCm39)	missense	probably benign	0.02
R8403:Dop1a	UTSW	9	86,382,925 (GRCm39)	missense	probably damaging	1.00
R8817:Dop1a	UTSW	9	86,396,003 (GRCm39)	missense	possibly damaging	0.91
R8862:Dop1a	UTSW	9	86,406,404 (GRCm39)	critical splice donor site	probably null
R8888:Dop1a	UTSW	9	86,403,587 (GRCm39)	missense	probably benign
R8972:Dop1a	UTSW	9	86,403,300 (GRCm39)	missense	possibly damaging	0.50
R9001:Dop1a	UTSW	9	86,436,374 (GRCm39)	makesense	probably null
R9011:Dop1a	UTSW	9	86,397,396 (GRCm39)	missense	probably damaging	1.00
R9021:Dop1a	UTSW	9	86,402,490 (GRCm39)	missense	probably benign	0.35
R9039:Dop1a	UTSW	9	86,382,870 (GRCm39)	missense	probably damaging	0.99
R9128:Dop1a	UTSW	9	86,395,208 (GRCm39)	missense	probably benign
R9178:Dop1a	UTSW	9	86,371,796 (GRCm39)	nonsense	probably null
R9238:Dop1a	UTSW	9	86,415,027 (GRCm39)	missense	probably benign
R9313:Dop1a	UTSW	9	86,406,641 (GRCm39)	makesense	probably null
R9334:Dop1a	UTSW	9	86,403,027 (GRCm39)	missense	probably damaging	1.00
R9422:Dop1a	UTSW	9	86,425,093 (GRCm39)	missense	probably damaging	1.00
R9562:Dop1a	UTSW	9	86,424,811 (GRCm39)	missense	probably damaging	1.00
R9584:Dop1a	UTSW	9	86,385,151 (GRCm39)	missense	possibly damaging	0.59
R9677:Dop1a	UTSW	9	86,425,098 (GRCm39)	missense
RF004:Dop1a	UTSW	9	86,436,244 (GRCm39)	missense	probably benign
X0019:Dop1a	UTSW	9	86,413,803 (GRCm39)	missense	probably damaging	0.98
X0019:Dop1a	UTSW	9	86,388,280 (GRCm39)	missense	probably damaging	1.00
ZE80:Dop1a	UTSW	9	86,382,895 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTCAGACTGTGAGCACGC -3'
(R):5'- AGGAAGTCAGAACTTGTCATGG -3'

Sequencing Primer
(F):5'- ACTGTGAGCACGCCCACC -3'
(R):5'- GCTATATACTTCAGGTTGCC -3'

Posted On

2020-07-28