Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Dop1b'

410743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93556543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 349 (E349K)

Ref Sequence

ENSEMBL: ENSMUSP00000154771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156]

AlphaFold

Q3UHQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000045004
AA Change: E467K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: E467K

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	11	308	3.9e-104	PFAM
low complexity region	651	666	N/A	INTRINSIC
low complexity region	709	719	N/A	INTRINSIC
low complexity region	747	759	N/A	INTRINSIC
low complexity region	1186	1199	N/A	INTRINSIC
low complexity region	1436	1451	N/A	INTRINSIC
low complexity region	1893	1908	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226215

Predicted Effect

probably benign
Transcript: ENSMUST00000226836

Predicted Effect

probably benign
Transcript: ENSMUST00000227156
AA Change: E349K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,738,333 (GRCm39)	L236R	probably damaging	Het
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ahrr	G	A	13: 74,405,614 (GRCm39)	Q108*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,744,655 (GRCm39)	N32T	probably damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,159,200 (GRCm39)	T157A	probably benign	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5b119	A	T	19: 13,456,835 (GRCm39)	H242Q	probably damaging	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het

Other mutations in Dop1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dop1b	APN	16	93,596,914 (GRCm39)	unclassified	probably benign
IGL00492:Dop1b	APN	16	93,577,670 (GRCm39)	missense	probably benign	0.00
IGL00753:Dop1b	APN	16	93,566,512 (GRCm39)	missense	probably benign
IGL00832:Dop1b	APN	16	93,560,289 (GRCm39)	missense	probably benign	0.01
IGL00939:Dop1b	APN	16	93,570,971 (GRCm39)	missense	possibly damaging	0.83
IGL01019:Dop1b	APN	16	93,607,117 (GRCm39)	missense	probably benign	0.32
IGL01288:Dop1b	APN	16	93,536,181 (GRCm39)	missense	possibly damaging	0.78
IGL01505:Dop1b	APN	16	93,554,004 (GRCm39)	missense	possibly damaging	0.87
IGL01535:Dop1b	APN	16	93,566,846 (GRCm39)	nonsense	probably null
IGL01696:Dop1b	APN	16	93,567,128 (GRCm39)	missense	probably benign	0.00
IGL02077:Dop1b	APN	16	93,577,648 (GRCm39)	missense	probably damaging	0.96
IGL02163:Dop1b	APN	16	93,559,315 (GRCm39)	missense	possibly damaging	0.48
IGL02234:Dop1b	APN	16	93,549,039 (GRCm39)	missense	probably benign
IGL02302:Dop1b	APN	16	93,607,005 (GRCm39)	missense	probably benign	0.08
IGL02485:Dop1b	APN	16	93,567,710 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dop1b	APN	16	93,574,293 (GRCm39)	missense	probably damaging	0.99
IGL02733:Dop1b	APN	16	93,536,079 (GRCm39)	missense	possibly damaging	0.80
IGL02792:Dop1b	APN	16	93,598,460 (GRCm39)	missense	possibly damaging	0.75
IGL02941:Dop1b	APN	16	93,552,361 (GRCm39)	missense	probably benign	0.09
PIT4519001:Dop1b	UTSW	16	93,558,942 (GRCm39)	missense	probably benign
R0320:Dop1b	UTSW	16	93,607,035 (GRCm39)	missense	probably benign	0.02
R0499:Dop1b	UTSW	16	93,567,325 (GRCm39)	missense	probably benign	0.00
R0501:Dop1b	UTSW	16	93,549,750 (GRCm39)	missense	probably benign	0.00
R0534:Dop1b	UTSW	16	93,559,393 (GRCm39)	missense	probably benign	0.04
R0583:Dop1b	UTSW	16	93,552,374 (GRCm39)	missense	probably benign	0.30
R0626:Dop1b	UTSW	16	93,560,844 (GRCm39)	missense	probably damaging	1.00
R0724:Dop1b	UTSW	16	93,559,213 (GRCm39)	missense	probably benign	0.01
R0907:Dop1b	UTSW	16	93,598,481 (GRCm39)	missense	probably damaging	1.00
R1263:Dop1b	UTSW	16	93,574,274 (GRCm39)	missense	probably benign
R1378:Dop1b	UTSW	16	93,567,280 (GRCm39)	missense	probably benign
R1572:Dop1b	UTSW	16	93,567,041 (GRCm39)	missense	probably damaging	1.00
R1604:Dop1b	UTSW	16	93,559,458 (GRCm39)	missense	probably benign
R1642:Dop1b	UTSW	16	93,559,203 (GRCm39)	missense	probably benign	0.00
R1668:Dop1b	UTSW	16	93,562,404 (GRCm39)	missense	probably damaging	1.00
R1669:Dop1b	UTSW	16	93,566,548 (GRCm39)	missense	probably damaging	1.00
R1702:Dop1b	UTSW	16	93,544,509 (GRCm39)	missense	possibly damaging	0.47
R1711:Dop1b	UTSW	16	93,596,814 (GRCm39)	missense	probably damaging	1.00
R1917:Dop1b	UTSW	16	93,513,150 (GRCm39)	missense	probably damaging	1.00
R1968:Dop1b	UTSW	16	93,579,307 (GRCm39)	missense	probably damaging	1.00
R1988:Dop1b	UTSW	16	93,563,061 (GRCm39)	missense	probably damaging	1.00
R2029:Dop1b	UTSW	16	93,566,323 (GRCm39)	missense	probably benign	0.36
R2139:Dop1b	UTSW	16	93,567,895 (GRCm39)	missense	possibly damaging	0.78
R2355:Dop1b	UTSW	16	93,567,565 (GRCm39)	missense	probably damaging	1.00
R3609:Dop1b	UTSW	16	93,536,220 (GRCm39)	missense	probably damaging	1.00
R3792:Dop1b	UTSW	16	93,568,734 (GRCm39)	missense	possibly damaging	0.54
R4364:Dop1b	UTSW	16	93,567,812 (GRCm39)	missense	probably benign	0.00
R4380:Dop1b	UTSW	16	93,513,120 (GRCm39)	missense	possibly damaging	0.53
R4455:Dop1b	UTSW	16	93,563,103 (GRCm39)	missense	probably damaging	1.00
R4779:Dop1b	UTSW	16	93,553,969 (GRCm39)	missense	probably damaging	1.00
R4820:Dop1b	UTSW	16	93,589,978 (GRCm39)	missense	probably benign	0.00
R4834:Dop1b	UTSW	16	93,536,892 (GRCm39)	start codon destroyed	probably null	0.70
R4866:Dop1b	UTSW	16	93,560,318 (GRCm39)	critical splice donor site	probably null
R4882:Dop1b	UTSW	16	93,549,802 (GRCm39)	missense	possibly damaging	0.95
R4900:Dop1b	UTSW	16	93,560,318 (GRCm39)	critical splice donor site	probably null
R5153:Dop1b	UTSW	16	93,570,891 (GRCm39)	missense	probably damaging	0.98
R5176:Dop1b	UTSW	16	93,536,931 (GRCm39)	missense	probably damaging	1.00
R5206:Dop1b	UTSW	16	93,598,472 (GRCm39)	missense	probably damaging	1.00
R5320:Dop1b	UTSW	16	93,536,874 (GRCm39)	missense	probably damaging	1.00
R5361:Dop1b	UTSW	16	93,567,392 (GRCm39)	missense	probably damaging	1.00
R5380:Dop1b	UTSW	16	93,560,298 (GRCm39)	missense	probably damaging	0.96
R5476:Dop1b	UTSW	16	93,570,801 (GRCm39)	splice site	probably null
R5502:Dop1b	UTSW	16	93,590,114 (GRCm39)	missense	probably benign	0.00
R5543:Dop1b	UTSW	16	93,595,808 (GRCm39)	missense	probably damaging	0.98
R5557:Dop1b	UTSW	16	93,560,819 (GRCm39)	missense	probably damaging	0.96
R5901:Dop1b	UTSW	16	93,566,639 (GRCm39)	missense	possibly damaging	0.88
R5907:Dop1b	UTSW	16	93,598,469 (GRCm39)	missense	probably damaging	1.00
R6174:Dop1b	UTSW	16	93,563,110 (GRCm39)	missense	probably damaging	1.00
R6256:Dop1b	UTSW	16	93,604,102 (GRCm39)	missense	possibly damaging	0.94
R6383:Dop1b	UTSW	16	93,579,136 (GRCm39)	missense	possibly damaging	0.76
R6525:Dop1b	UTSW	16	93,606,304 (GRCm39)	missense	probably damaging	1.00
R6554:Dop1b	UTSW	16	93,557,346 (GRCm39)	missense	probably benign	0.22
R6823:Dop1b	UTSW	16	93,552,373 (GRCm39)	missense	possibly damaging	0.75
R7036:Dop1b	UTSW	16	93,574,378 (GRCm39)	missense	probably benign	0.01
R7058:Dop1b	UTSW	16	93,573,878 (GRCm39)	missense	probably benign	0.00
R7061:Dop1b	UTSW	16	93,558,951 (GRCm39)	missense	probably benign	0.00
R7209:Dop1b	UTSW	16	93,566,733 (GRCm39)	missense	probably benign
R7214:Dop1b	UTSW	16	93,607,023 (GRCm39)	missense	possibly damaging	0.69
R7232:Dop1b	UTSW	16	93,557,373 (GRCm39)	critical splice donor site	probably null
R7255:Dop1b	UTSW	16	93,567,034 (GRCm39)	missense	probably damaging	1.00
R7335:Dop1b	UTSW	16	93,544,396 (GRCm39)	missense	probably benign	0.04
R7535:Dop1b	UTSW	16	93,603,249 (GRCm39)	missense	probably damaging	1.00
R7700:Dop1b	UTSW	16	93,595,649 (GRCm39)	splice site	probably null
R7763:Dop1b	UTSW	16	93,552,402 (GRCm39)	missense	probably benign	0.00
R7814:Dop1b	UTSW	16	93,596,859 (GRCm39)	missense	probably damaging	1.00
R7839:Dop1b	UTSW	16	93,560,829 (GRCm39)	missense	probably damaging	1.00
R7862:Dop1b	UTSW	16	93,546,851 (GRCm39)	missense	probably damaging	1.00
R7894:Dop1b	UTSW	16	93,607,092 (GRCm39)	missense	probably benign	0.01
R7952:Dop1b	UTSW	16	93,546,848 (GRCm39)	missense	possibly damaging	0.93
R7956:Dop1b	UTSW	16	93,567,916 (GRCm39)	critical splice donor site	probably null
R8033:Dop1b	UTSW	16	93,566,371 (GRCm39)	missense	probably benign
R8061:Dop1b	UTSW	16	93,546,884 (GRCm39)	missense	probably damaging	1.00
R8067:Dop1b	UTSW	16	93,562,336 (GRCm39)	nonsense	probably null
R8146:Dop1b	UTSW	16	93,546,827 (GRCm39)	missense	possibly damaging	0.95
R8184:Dop1b	UTSW	16	93,573,881 (GRCm39)	missense	probably benign	0.13
R8221:Dop1b	UTSW	16	93,546,847 (GRCm39)	missense	probably benign	0.01
R8263:Dop1b	UTSW	16	93,559,083 (GRCm39)	missense	possibly damaging	0.87
R8329:Dop1b	UTSW	16	93,568,675 (GRCm39)	missense	probably damaging	1.00
R8555:Dop1b	UTSW	16	93,568,698 (GRCm39)	missense	probably damaging	1.00
R8683:Dop1b	UTSW	16	93,570,809 (GRCm39)	missense	probably benign
R8683:Dop1b	UTSW	16	93,568,699 (GRCm39)	missense	probably damaging	0.98
R8716:Dop1b	UTSW	16	93,577,673 (GRCm39)	nonsense	probably null
R8807:Dop1b	UTSW	16	93,558,973 (GRCm39)	missense	probably benign	0.03
R8840:Dop1b	UTSW	16	93,607,005 (GRCm39)	missense	probably benign	0.08
R8851:Dop1b	UTSW	16	93,559,398 (GRCm39)	missense	probably benign	0.39
R8884:Dop1b	UTSW	16	93,556,550 (GRCm39)	missense	probably benign
R8976:Dop1b	UTSW	16	93,558,969 (GRCm39)	missense	probably benign	0.01
R9219:Dop1b	UTSW	16	93,567,184 (GRCm39)	missense	probably damaging	1.00
R9238:Dop1b	UTSW	16	93,546,018 (GRCm39)	missense	probably benign	0.14
R9284:Dop1b	UTSW	16	93,557,196 (GRCm39)	missense	probably damaging	1.00
R9289:Dop1b	UTSW	16	93,568,681 (GRCm39)	missense	probably damaging	1.00
R9298:Dop1b	UTSW	16	93,597,087 (GRCm39)	missense	probably damaging	0.96
R9338:Dop1b	UTSW	16	93,600,448 (GRCm39)	missense	probably damaging	1.00
R9346:Dop1b	UTSW	16	93,577,702 (GRCm39)	critical splice donor site	probably null
R9444:Dop1b	UTSW	16	93,607,127 (GRCm39)	missense	probably benign	0.00
R9500:Dop1b	UTSW	16	93,607,171 (GRCm39)	missense	probably benign
R9601:Dop1b	UTSW	16	93,544,531 (GRCm39)	missense	possibly damaging	0.87
R9793:Dop1b	UTSW	16	93,598,503 (GRCm39)	missense	probably benign	0.30
Z1088:Dop1b	UTSW	16	93,560,214 (GRCm39)	missense	probably benign	0.00
Z1176:Dop1b	UTSW	16	93,604,756 (GRCm39)	missense	possibly damaging	0.82
Z1176:Dop1b	UTSW	16	93,600,434 (GRCm39)	missense	probably damaging	1.00
Z1176:Dop1b	UTSW	16	93,566,469 (GRCm39)	missense	probably benign	0.00
Z1177:Dop1b	UTSW	16	93,560,783 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02