Mutagenetix > Incidental Mutation

Incidental Mutation 'R1158:Dop1a'

101896

Institutional Source

Beutler Lab

Gene Symbol

Dop1a

Ensembl Gene

ENSMUSG00000034973

Gene Name

DOP1 leucine zipper like protein A

Synonyms

D9Ertd809e, B130005I07Rik, Dopey1

MMRRC Submission

039231-MU

Accession Numbers

Essential gene?

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

Stock #

R1158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86349194-86436683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86367609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 31 (S31P)

Ref Sequence

ENSEMBL: ENSMUSP00000140740 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034987
AA Change: S31P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
AA Change: S31P

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 damaging
Transcript: ENSMUST00000185919
AA Change: S31P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
AA Change: S31P

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: ENSMUST00000186290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187607

Predicted Effect

probably damaging
Transcript: ENSMUST00000188675
AA Change: S31P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139413
Gene: ENSMUSG00000034973
AA Change: S31P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190407

Predicted Effect

probably damaging
Transcript: ENSMUST00000190957
AA Change: S31P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
AA Change: S31P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190906

Meta Mutation Damage Score

0.3797

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	C	9: 59,217,566 (GRCm39)	V193A	possibly damaging	Het
Ahnak	A	C	19: 8,991,290 (GRCm39)	E4191D	probably benign	Het
BC024139	T	A	15: 76,004,542 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,184 (GRCm39)	I209S	probably benign	Het
Bst1	T	G	5: 43,997,834 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Carf	A	G	1: 60,186,998 (GRCm39)	K499E	probably benign	Het
Casq2	A	G	3: 102,024,199 (GRCm39)	E147G	probably damaging	Het
Cd8a	T	A	6: 71,350,712 (GRCm39)	V59D	probably damaging	Het
Chrm5	T	C	2: 112,310,214 (GRCm39)	T301A	probably benign	Het
Cog5	G	A	12: 31,920,056 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,156,170 (GRCm39)		probably null	Het
Eif1ad9	A	T	12: 88,296,438 (GRCm39)	I139F	unknown	Het
Epb41	T	C	4: 131,727,502 (GRCm39)		probably benign	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Gdpgp1	T	C	7: 79,888,250 (GRCm39)	F94L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Htr3b	T	C	9: 48,847,390 (GRCm39)	K375R	possibly damaging	Het
Inhbe	G	A	10: 127,187,186 (GRCm39)	R77W	probably damaging	Het
Itgb8	T	C	12: 119,166,231 (GRCm39)	E100G	probably damaging	Het
Jakmip1	T	C	5: 37,248,472 (GRCm39)	V44A	possibly damaging	Het
Lrp12	A	G	15: 39,741,827 (GRCm39)	V315A	probably damaging	Het
Lrp1b	T	A	2: 40,567,506 (GRCm39)	T305S	unknown	Het
Map3k2	A	G	18: 32,350,211 (GRCm39)	T354A	probably benign	Het
Mmp16	T	C	4: 17,987,726 (GRCm39)		probably null	Het
Mphosph10	T	C	7: 64,038,607 (GRCm39)		probably benign	Het
Or10a48	A	G	7: 108,424,385 (GRCm39)	S274P	probably damaging	Het
Or10ak7	A	T	4: 118,791,614 (GRCm39)	C144S	probably damaging	Het
Or4c52	T	A	2: 89,845,598 (GRCm39)	I108N	possibly damaging	Het
Or4k47	T	C	2: 111,452,086 (GRCm39)	E111G	probably damaging	Het
Or5p52	G	A	7: 107,502,130 (GRCm39)	V69I	possibly damaging	Het
Slc43a3	C	A	2: 84,768,140 (GRCm39)	F37L	probably benign	Het
Slf2	G	T	19: 44,919,855 (GRCm39)	A36S	probably damaging	Het
Sorcs1	T	C	19: 50,132,598 (GRCm39)		probably benign	Het
Thsd7b	A	C	1: 130,117,672 (GRCm39)		probably null	Het
Tnfrsf18	A	C	4: 156,112,739 (GRCm39)	I142L	probably benign	Het
Ttn	A	G	2: 76,632,855 (GRCm39)		probably benign	Het
Tufm	T	A	7: 126,088,614 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,059,058 (GRCm39)		probably benign	Het
Zfp385c	T	C	11: 100,520,709 (GRCm39)		probably benign	Het
Zfp964	T	A	8: 70,116,503 (GRCm39)	C368S	unknown	Het
Zswim8	G	A	14: 20,771,736 (GRCm39)		probably benign	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
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
R8267:Dop1a	UTSW	9	86,396,054 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2014-01-15