Mutagenetix > Incidental Mutation

Incidental Mutation 'R8851:Dop1b'

675030

Institutional Source

Beutler Lab

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 #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93559398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 715 (S715T)

Ref Sequence

ENSEMBL: ENSMUSP00000044437 (fasta)

Gene Model

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

AlphaFold

Q3UHQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000045004
AA Change: S715T

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

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: S715T

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: S597T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,683 (GRCm39)	I279F	probably benign	Het
Adamts7	A	G	9: 90,075,163 (GRCm39)	N965S	probably benign	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankar	T	C	1: 72,691,535 (GRCm39)	Y1142C	probably damaging	Het
Apoa4	A	G	9: 46,153,906 (GRCm39)	K169R	probably benign	Het
Cd22	T	A	7: 30,577,084 (GRCm39)	K74N	probably benign	Het
Defa39	T	A	8: 22,193,555 (GRCm39)	I22F	possibly damaging	Het
Dgcr2	G	A	16: 17,690,507 (GRCm39)	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,690,300 (GRCm39)	V245A	possibly damaging	Het
Epb41l1	A	T	2: 156,364,431 (GRCm39)	H980L	probably benign	Het
Erc2	A	T	14: 28,039,216 (GRCm39)	E973V	probably null	Het
Fam124b	T	A	1: 80,190,882 (GRCm39)	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,217,643 (GRCm39)	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,312,186 (GRCm39)	V4I	probably benign	Het
Gbf1	T	A	19: 46,256,922 (GRCm39)	N841K	probably damaging	Het
Gnpat	A	G	8: 125,601,004 (GRCm39)	H161R	probably damaging	Het
Gpd2	A	T	2: 57,197,062 (GRCm39)	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,348,352 (GRCm39)	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,213,412 (GRCm39)	V128A	probably benign	Het
Ism1	G	T	2: 139,591,465 (GRCm39)	S273I	probably damaging	Het
Kcnab3	G	T	11: 69,218,990 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,291,993 (GRCm39)	Y1430H	unknown	Het
Lama2	A	G	10: 27,242,119 (GRCm39)	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,804,680 (GRCm39)	W119*	probably null	Het
Lrrc42	A	G	4: 107,096,375 (GRCm39)	V276A	probably benign	Het
Magi2	T	C	5: 20,270,618 (GRCm39)	F163L	probably damaging	Het
Map2k2	A	G	10: 80,955,097 (GRCm39)	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,752,479 (GRCm39)	D209E	probably benign	Het
Muc1	C	A	3: 89,138,425 (GRCm39)	F422L	probably benign	Het
Muc13	A	G	16: 33,631,273 (GRCm39)	H391R	probably benign	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 125,986,617 (GRCm39)	Q346R	probably damaging	Het
Or8g2b	A	G	9: 39,751,600 (GRCm39)	Y290C	probably damaging	Het
Otol1	T	A	3: 69,935,299 (GRCm39)	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,325,155 (GRCm39)	E929G	probably damaging	Het
Pip4p2	T	C	4: 14,912,491 (GRCm39)	M200T	possibly damaging	Het
Plekhf1	C	T	7: 37,921,466 (GRCm39)	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,358,639 (GRCm39)	V622E	probably benign	Het
Pomt2	G	A	12: 87,184,838 (GRCm39)	T196I	probably damaging	Het
Ppp1r12c	C	T	7: 4,487,703 (GRCm39)	G436D	probably damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,900,402 (GRCm39)	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,755,790 (GRCm39)	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,285,093 (GRCm39)	S133R	probably damaging	Het
Sox17	A	G	1: 4,562,073 (GRCm39)	Y376H	probably benign	Het
Spata4	T	C	8: 55,062,935 (GRCm39)	I280T	probably benign	Het
Svop	T	A	5: 114,192,557 (GRCm39)	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,013,896 (GRCm39)	I57F		Het
Tead3	A	G	17: 28,551,704 (GRCm39)	V463A	probably damaging	Het
Tenm4	G	C	7: 96,501,710 (GRCm39)	G1305R	probably damaging	Het
Top2a	A	T	11: 98,900,677 (GRCm39)	F594L	probably damaging	Het
Trim23	A	G	13: 104,334,573 (GRCm39)	T419A	possibly damaging	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,593,090 (GRCm39)	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,487,219 (GRCm39)	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437 (GRCm39)	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,820,626 (GRCm39)	D597A	probably damaging	Het
Zfp318	A	T	17: 46,710,761 (GRCm39)	Y828F	probably damaging	Het
Zfp608	T	A	18: 55,032,194 (GRCm39)	N582I	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
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
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'- AACATCTTTGCAGCGTCGC -3'
(R):5'- CACATAGCTGCTCAGTCTCC -3'

Sequencing Primer
(F):5'- AGCGTCGCTGACTGTGTC -3'
(R):5'- TCAGTCTCCTCCTCAGACAGATAC -3'

Posted On

2021-07-15