Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Dop1b'

669912

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 93577673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1761 (L1761*)

Ref Sequence

ENSEMBL: ENSMUSP00000044437 (fasta)

Gene Model

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

AlphaFold

Q3UHQ6

Predicted Effect

probably null
Transcript: ENSMUST00000045004
AA Change: L1761*

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: L1761*

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 null
Transcript: ENSMUST00000226215
AA Change: L971*

Predicted Effect

probably null
Transcript: ENSMUST00000227156
AA Change: L1643*

Predicted Effect

probably null
Transcript: ENSMUST00000228261
AA Change: L66*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	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
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
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'- TTCAAACCTTAGCAGCTGCAGC -3'
(R):5'- AAAGCCTTCAGTGTGCAGCG -3'

Sequencing Primer
(F):5'- AGCTGCAGCCCTGTTGAG -3'
(R):5'- CGTGTGGACTTTAAAAATGTCGCTC -3'

Posted On

2021-04-30