Mutagenetix > Incidental Mutation

Incidental Mutation 'R5153:Dop1b'

395565

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

042735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93570891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1512 (M1512K)

Ref Sequence

ENSEMBL: ENSMUSP00000154771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156] [ENSMUST00000228261]

AlphaFold

Q3UHQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045004
AA Change: M1630K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: M1630K

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

unknown
Transcript: ENSMUST00000226215
AA Change: M840K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226535

Predicted Effect

probably benign
Transcript: ENSMUST00000226836

Predicted Effect

probably damaging
Transcript: ENSMUST00000227156
AA Change: M1512K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227939

Predicted Effect

probably benign
Transcript: ENSMUST00000228261

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,073 (GRCm39)	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,532,212 (GRCm39)	R121L	probably benign	Het
Aadacl4fm1	T	A	4: 144,248,837 (GRCm39)	M68K	probably benign	Het
Acin1	A	G	14: 54,883,070 (GRCm39)	V194A	probably benign	Het
Acsm1	T	C	7: 119,239,950 (GRCm39)	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,885,681 (GRCm39)	N729D	probably benign	Het
Apobr	C	T	7: 126,186,904 (GRCm39)	T20I	possibly damaging	Het
Arsb	A	G	13: 94,077,106 (GRCm39)	E491G	probably benign	Het
AW209491	C	G	13: 14,811,764 (GRCm39)	Q206E	probably benign	Het
Camsap1	A	T	2: 25,823,630 (GRCm39)	N1473K	probably damaging	Het
Casp8	A	G	1: 58,884,004 (GRCm39)	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,387,315 (GRCm39)	A350T	probably damaging	Het
Cecr2	A	G	6: 120,711,521 (GRCm39)	E183G	probably benign	Het
Cep295	A	T	9: 15,268,925 (GRCm39)	S39T	probably benign	Het
Cep350	A	T	1: 155,811,692 (GRCm39)	I416K	probably damaging	Het
Cidea	C	T	18: 67,500,490 (GRCm39)	T184M	probably damaging	Het
Cnot10	G	A	9: 114,442,803 (GRCm39)	A468V	probably damaging	Het
Cstdc1	A	G	2: 148,625,360 (GRCm39)	Q98R	probably benign	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Dnah17	A	T	11: 117,973,800 (GRCm39)	C1915*	probably null	Het
Dnah2	T	C	11: 69,411,759 (GRCm39)	T288A	possibly damaging	Het
Dsp	T	G	13: 38,366,282 (GRCm39)	I572S	probably damaging	Het
Eepd1	A	G	9: 25,498,049 (GRCm39)	H378R	probably benign	Het
Elapor1	A	T	3: 108,380,063 (GRCm39)	Y349N	possibly damaging	Het
Emilin2	A	G	17: 71,580,497 (GRCm39)	M743T	possibly damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
F2rl2	A	G	13: 95,833,620 (GRCm39)	T17A	probably benign	Het
Fbxl8	T	G	8: 105,993,739 (GRCm39)	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,573,897 (GRCm39)	T38A	probably damaging	Het
Flii	A	T	11: 60,607,512 (GRCm39)	L882Q	possibly damaging	Het
Focad	T	G	4: 88,278,121 (GRCm39)	S1197A	unknown	Het
H1f11-ps	A	G	19: 47,159,356 (GRCm39)	V73A	probably damaging	Het
Heatr5b	G	A	17: 79,102,536 (GRCm39)	R1281*	probably null	Het
Khdc3	A	G	9: 73,010,720 (GRCm39)	Q190R	probably benign	Het
Krt9	T	A	11: 100,082,068 (GRCm39)	D244V	probably damaging	Het
Ldhd	T	C	8: 112,353,724 (GRCm39)	E463G	probably benign	Het
Lig4	A	T	8: 10,023,003 (GRCm39)	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,186,806 (GRCm39)		probably benign	Het
Man1a2	T	C	3: 100,563,579 (GRCm39)	E22G	probably damaging	Het
Mmp23	T	G	4: 155,735,797 (GRCm39)	D258A	probably damaging	Het
Msantd2	C	T	9: 37,434,509 (GRCm39)	R250*	probably null	Het
Mynn	T	C	3: 30,665,738 (GRCm39)	S457P	probably benign	Het
Nectin1	C	T	9: 43,714,795 (GRCm39)	H50Y	probably damaging	Het
Or10a3b	T	C	7: 108,444,906 (GRCm39)	I104V	probably benign	Het
Or2d3c	C	T	7: 106,525,776 (GRCm39)	V297M	possibly damaging	Het
Or4a47	G	A	2: 89,665,578 (GRCm39)	T237I	possibly damaging	Het
Or6c6c	A	G	10: 129,541,026 (GRCm39)	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,629,527 (GRCm39)	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Plxna4	A	T	6: 32,201,094 (GRCm39)		probably null	Het
Podnl1	C	T	8: 84,857,272 (GRCm39)	H294Y	probably benign	Het
Ppig	T	A	2: 69,579,994 (GRCm39)	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,578,596 (GRCm39)	Y433*	probably null	Het
Prdm1	A	C	10: 44,326,221 (GRCm39)	V134G	possibly damaging	Het
Prx	T	C	7: 27,217,901 (GRCm39)	S940P	probably damaging	Het
Ptprd	C	T	4: 75,930,339 (GRCm39)	V731I	probably damaging	Het
Qki	A	G	17: 10,457,820 (GRCm39)		probably null	Het
Rassf6	T	C	5: 90,754,699 (GRCm39)	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,712,124 (GRCm39)	E194K	possibly damaging	Het
Rims1	C	A	1: 22,522,328 (GRCm39)	G457*	probably null	Het
Ripk1	T	G	13: 34,197,279 (GRCm39)	I123R	probably damaging	Het
Rnf111	A	T	9: 70,383,422 (GRCm39)	S170R	probably benign	Het
Shc3	A	T	13: 51,615,413 (GRCm39)	F181L	probably damaging	Het
Siglec1	A	C	2: 130,927,497 (GRCm39)	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,268,085 (GRCm39)	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,556,841 (GRCm39)	T97S	probably damaging	Het
Son	T	C	16: 91,451,910 (GRCm39)	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,071,510 (GRCm39)	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,269,542 (GRCm39)	D127V	possibly damaging	Het
Tet1	G	T	10: 62,714,357 (GRCm39)	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,654 (GRCm39)	A1192V	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Traj57	A	G	14: 54,396,016 (GRCm39)		probably benign	Het
Trpv1	G	T	11: 73,129,342 (GRCm39)	R86S	probably benign	Het
Usp48	T	A	4: 137,343,673 (GRCm39)	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 41,691,834 (GRCm39)		probably null	Het
Vmn2r71	T	A	7: 85,268,430 (GRCm39)	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,599 (GRCm39)	D186E	probably damaging	Het
Vps33a	A	G	5: 123,696,691 (GRCm39)	S321P	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Zc3h12c	A	G	9: 52,037,947 (GRCm39)	F278L	probably damaging	Het
Zpld1	T	C	16: 55,067,007 (GRCm39)	T183A	probably damaging	Het
Zswim2	G	T	2: 83,770,010 (GRCm39)	T68K	possibly damaging	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
IGL03143:Dop1b	APN	16	93,556,543 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGACAGATGTCACTTCCAGAC -3'
(R):5'- ATTGCTCAGCTGAGATTCCAG -3'

Sequencing Primer
(F):5'- ACTTCCAGACTGCCTCATGGG -3'
(R):5'- AGCACTCTGGAGGCTGTG -3'

Posted On

2016-06-21