Mutagenetix > Incidental Mutation

Incidental Mutation 'R9284:Dop1b'

703841

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93557196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 497 (V497E)

Ref Sequence

ENSEMBL: ENSMUSP00000044437 (fasta)

Gene Model

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

AlphaFold

Q3UHQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045004
AA Change: V497E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: V497E

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 damaging
Transcript: ENSMUST00000227156
AA Change: V379E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	G	4: 144,504,191 (GRCm39)	Q320P	probably damaging	Het
Adamtsl2	G	A	2: 26,994,055 (GRCm39)		probably benign	Het
Adgrl3	T	A	5: 81,657,568 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,919,480 (GRCm39)	Q80R	probably benign	Het
Atmin	G	A	8: 117,684,019 (GRCm39)	V560M	probably benign	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Cacng8	C	A	7: 3,459,746 (GRCm39)	Y112*	probably null	Het
Catsperg2	A	G	7: 29,405,006 (GRCm39)		probably null	Het
Ccdc12	A	C	9: 110,540,203 (GRCm39)	T131P	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cep95	A	T	11: 106,704,624 (GRCm39)	H493L	probably benign	Het
Cntnap1	A	G	11: 101,068,137 (GRCm39)	T50A	probably benign	Het
Cyp3a16	T	A	5: 145,377,304 (GRCm39)	I428F	probably damaging	Het
Dnhd1	G	T	7: 105,301,091 (GRCm39)	L149F	probably damaging	Het
Erich3	A	T	3: 154,404,308 (GRCm39)	N55I		Het
Fbxw26	A	T	9: 109,550,962 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,403,895 (GRCm39)	I66T	probably damaging	Het
Gp5	G	A	16: 30,127,094 (GRCm39)	L527F	probably damaging	Het
Gpatch2l	G	A	12: 86,290,883 (GRCm39)	G22D	probably benign	Het
Isg20l2	T	A	3: 87,838,991 (GRCm39)	D67E	probably benign	Het
Itgae	G	A	11: 73,012,752 (GRCm39)	V695I	probably benign	Het
Itpr2	A	T	6: 146,256,174 (GRCm39)	N1006K	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Lama3	C	T	18: 12,583,541 (GRCm39)	Q710*	probably null	Het
Loxhd1	C	T	18: 77,501,826 (GRCm39)	A1715V	probably damaging	Het
Map3k20	C	T	2: 72,228,755 (GRCm39)	Q325*	probably null	Het
Med1	A	T	11: 98,046,366 (GRCm39)	S1477T	unknown	Het
Mr1	T	A	1: 155,013,274 (GRCm39)	H101L	probably benign	Het
Mtor	T	A	4: 148,543,537 (GRCm39)	S405T	probably benign	Het
Nme9	G	C	9: 99,338,321 (GRCm39)		probably null	Het
Nom1	T	A	5: 29,647,532 (GRCm39)	I589N	probably damaging	Het
Nr6a1	A	T	2: 38,638,890 (GRCm39)	D148E	probably damaging	Het
Nup160	T	C	2: 90,548,375 (GRCm39)	V1006A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,416 (GRCm39)	I174N	possibly damaging	Het
Or2aj4	A	G	16: 19,385,357 (GRCm39)	I92T	probably damaging	Het
Or4d10b	A	T	19: 12,036,273 (GRCm39)	L281Q	probably damaging	Het
Or5d37	T	A	2: 87,924,278 (GRCm39)	M1L	probably benign	Het
Or6c200-ps1	G	A	10: 128,869,821 (GRCm39)	P297S	probably damaging	Het
Phyhd1	G	T	2: 30,156,879 (GRCm39)	G7*	probably null	Het
Pla2g4e	T	C	2: 120,004,730 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 45,011,222 (GRCm39)	C3R	probably damaging	Het
Pramel1	T	C	4: 143,123,769 (GRCm39)	V148A	probably benign	Het
Ptpdc1	A	T	13: 48,740,167 (GRCm39)	D421E	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rbpj	T	G	5: 53,810,724 (GRCm39)	V448G	probably damaging	Het
Rif1	T	C	2: 51,998,564 (GRCm39)	V1067A	probably benign	Het
Scfd1	A	T	12: 51,439,024 (GRCm39)	N162I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sp110	A	T	1: 85,507,363 (GRCm39)		probably null	Het
Sparcl1	A	T	5: 104,236,345 (GRCm39)	C469*	probably null	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Stard7	T	G	2: 127,132,956 (GRCm39)	S250A	probably damaging	Het
Stxbp5l	A	C	16: 37,028,442 (GRCm39)	Y540*	probably null	Het
Tlr5	T	C	1: 182,801,377 (GRCm39)	V227A	probably benign	Het
Tmem132b	T	C	5: 125,864,711 (GRCm39)	I939T	possibly damaging	Het
Tnik	G	T	3: 28,593,570 (GRCm39)	S142I	unknown	Het
Trim6	A	G	7: 103,882,116 (GRCm39)	T482A	probably damaging	Het
Tssk5	A	G	15: 76,257,168 (GRCm39)	I238T	probably benign	Het
Ugt2b35	A	G	5: 87,156,140 (GRCm39)	T411A	probably benign	Het
Zc2hc1b	C	A	10: 13,043,562 (GRCm39)	R111L	probably benign	Het
Zfp266	A	T	9: 20,411,300 (GRCm39)	C292*	probably null	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
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
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'- AGCTGCAGTTTTAGAGGTGAC -3'
(R):5'- TCCTGAAGCACATACCGAGTTC -3'

Sequencing Primer
(F):5'- CAGTGGACACATTTAATGTAGACTGC -3'
(R):5'- ACATACCGAGTTCCCGCTG -3'

Posted On

2022-03-25