Mutagenetix > Incidental Mutation

Incidental Mutation 'R4513:Dop1a'

334520

Institutional Source

Beutler Lab

Gene Symbol

Dop1a

Ensembl Gene

ENSMUSG00000034973

Gene Name

DOP1 leucine zipper like protein A

Synonyms

D9Ertd809e, B130005I07Rik, Dopey1

MMRRC Submission

041759-MU

Accession Numbers

Essential gene?

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

Stock #

R4513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86349194-86436683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86402612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1271 (E1271K)

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 benign
Transcript: ENSMUST00000034987
AA Change: E1271K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
AA Change: E1271K

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 benign
Transcript: ENSMUST00000185919
AA Change: E1269K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
AA Change: E1269K

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 benign
Transcript: ENSMUST00000190957
AA Change: E1271K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
AA Change: E1271K

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

0.0752

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,717,947 (GRCm39)	I320V	probably benign	Het
Akap6	T	C	12: 52,842,787 (GRCm39)	V45A	probably benign	Het
Ankrd28	A	T	14: 31,465,242 (GRCm39)	S312T	probably damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Cfap96	G	T	8: 46,421,175 (GRCm39)	T116K	probably damaging	Het
Cntn3	A	T	6: 102,145,943 (GRCm39)	I966N	probably benign	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Dmxl2	A	C	9: 54,327,168 (GRCm39)	S952R	probably null	Het
Fgfr3	A	G	5: 33,880,460 (GRCm39)		probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Guf1	T	C	5: 69,719,005 (GRCm39)	V230A	probably benign	Het
Hsd17b14	C	T	7: 45,212,339 (GRCm39)	L124F	probably benign	Het
Id3	G	T	4: 135,871,669 (GRCm39)		probably benign	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Lgr4	T	C	2: 109,842,361 (GRCm39)	M782T	possibly damaging	Het
Lsm12	T	C	11: 102,057,909 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,580,741 (GRCm39)	D117V	probably damaging	Het
Map3k11	A	G	19: 5,752,238 (GRCm39)	T807A	probably damaging	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mapkbp1	T	A	2: 119,854,174 (GRCm39)	I1257N	possibly damaging	Het
Mcm3	A	G	1: 20,880,456 (GRCm39)	Y459H	probably damaging	Het
Mkln1	T	C	6: 31,410,093 (GRCm39)		probably benign	Het
Msh5	A	T	17: 35,249,664 (GRCm39)	I627N	possibly damaging	Het
Nfkbiz	T	C	16: 55,637,204 (GRCm39)	H488R	probably benign	Het
Nrg1	G	T	8: 32,967,105 (GRCm39)		probably benign	Het
Or1j19	A	G	2: 36,676,782 (GRCm39)	M82V	probably benign	Het
Or51q1	T	C	7: 103,628,648 (GRCm39)	V89A	probably benign	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5b120	A	T	19: 13,479,986 (GRCm39)	Y93F	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhg4	T	A	8: 106,107,034 (GRCm39)	C910S	probably damaging	Het
Ppp1r18	A	G	17: 36,179,196 (GRCm39)	E357G	probably damaging	Het
Pramel23	T	C	4: 143,424,718 (GRCm39)	M242V	probably benign	Het
Rbm11	T	C	16: 75,393,475 (GRCm39)	F57S	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Skint5	A	G	4: 113,599,382 (GRCm39)	V719A	unknown	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc29a1	A	C	17: 45,899,992 (GRCm39)	Y232*	probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Spanxn4	A	T	12: 62,734,886 (GRCm39)		noncoding transcript	Het
Spata31d1d	T	C	13: 59,876,368 (GRCm39)	Q389R	probably benign	Het
Srgap1	A	G	10: 121,706,231 (GRCm39)		probably null	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Tle2	A	G	10: 81,423,394 (GRCm39)	D491G	probably damaging	Het
Tmem33	T	C	5: 67,443,468 (GRCm39)	V215A	probably benign	Het
Trav6-3	A	G	14: 53,667,548 (GRCm39)	T7A	probably benign	Het
Ube2q2	C	A	9: 55,057,084 (GRCm39)	P56T	probably benign	Het
Unc79	T	C	12: 102,988,019 (GRCm39)	V208A	probably damaging	Het
Xkr7	T	C	2: 152,896,553 (GRCm39)	I469T	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
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
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

PCR Primer
(F):5'- TCAACACAGCCAGCATGTTTTG -3'
(R):5'- TGTACCAGTTCTCTAAGTCCAGG -3'

Sequencing Primer
(F):5'- GATGACAGCCCTCGGTTTCTG -3'
(R):5'- GGCCCTCACTGAAGAAGACATTTG -3'

Posted On

2015-08-18