Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Dop1b'

38314

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0320 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93607035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 2113 (R2113S)

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: R2230S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: R2230S

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: ENSMUST00000227156
AA Change: R2113S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231882

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Aadacl4fm1	A	T	4: 144,248,990 (GRCm39)	H119L	probably damaging	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Cit	C	A	5: 116,117,504 (GRCm39)	L1227M	possibly damaging	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Eif5a	G	T	11: 69,808,305 (GRCm39)	T64K	probably benign	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or1e23	T	G	11: 73,407,750 (GRCm39)	I92L	probably damaging	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Wnt16	T	G	6: 22,297,992 (GRCm39)	V286G	possibly damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	probably 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
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
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'- AAGGACCTGGAATGTGAGGTCTGC -3'
(R):5'- AACAGCACTTCAGGACTGTGGC -3'

Sequencing Primer
(F):5'- GAGGTCTGCCTCTGTCATCAG -3'
(R):5'- GATGCTCCAGAAAGTCCTGC -3'

Posted On

2013-05-23