Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Dop1b'

189844

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93544509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 99 (K99E)

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: K217E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: K217E

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

possibly damaging
Transcript: ENSMUST00000227156
AA Change: K99E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCAGGATGGACTTCATGGGTG -3'
(R):5'- AGAGGCAGTTTCCACATGAGCAAG -3'

Sequencing Primer
(F):5'- TGCTCACACGGTGCAGAAG -3'
(R):5'- tcttctctctctctctctctctc -3'

Posted On

2014-05-14