Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Zdbf2'

597707

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

045815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63312424-63353735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63347535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1971 (E1971D)

Ref Sequence

ENSEMBL: ENSMUSP00000029025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029025] [ENSMUST00000114132]

AlphaFold

Q5SS00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029025
AA Change: E1971D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: E1971D

Domain	Start	End	E-Value	Type
low complexity region	79	99	N/A	INTRINSIC
low complexity region	150	164	N/A	INTRINSIC
low complexity region	378	405	N/A	INTRINSIC
internal_repeat_6	407	565	7.68e-5	PROSPERO
internal_repeat_5	418	768	5.53e-5	PROSPERO
internal_repeat_1	618	873	3.17e-15	PROSPERO
internal_repeat_4	621	885	2.09e-6	PROSPERO
internal_repeat_3	642	886	1.52e-7	PROSPERO
internal_repeat_2	650	912	5.87e-11	PROSPERO
internal_repeat_6	722	891	7.68e-5	PROSPERO
low complexity region	965	982	N/A	INTRINSIC
internal_repeat_4	1061	1328	2.09e-6	PROSPERO
internal_repeat_2	1215	1484	5.87e-11	PROSPERO
internal_repeat_3	1287	1507	1.52e-7	PROSPERO
internal_repeat_1	1307	1536	3.17e-15	PROSPERO
internal_repeat_5	1388	1758	5.53e-5	PROSPERO
low complexity region	1767	1778	N/A	INTRINSIC
low complexity region	2211	2235	N/A	INTRINSIC
low complexity region	2240	2399	N/A	INTRINSIC
low complexity region	2402	2420	N/A	INTRINSIC
low complexity region	2446	2458	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114132
AA Change: E1971D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: E1971D

Domain	Start	End	E-Value	Type
low complexity region	79	99	N/A	INTRINSIC
low complexity region	150	164	N/A	INTRINSIC
low complexity region	378	405	N/A	INTRINSIC
internal_repeat_6	407	565	7.68e-5	PROSPERO
internal_repeat_5	418	768	5.53e-5	PROSPERO
internal_repeat_1	618	873	3.17e-15	PROSPERO
internal_repeat_4	621	885	2.09e-6	PROSPERO
internal_repeat_3	642	886	1.52e-7	PROSPERO
internal_repeat_2	650	912	5.87e-11	PROSPERO
internal_repeat_6	722	891	7.68e-5	PROSPERO
low complexity region	965	982	N/A	INTRINSIC
internal_repeat_4	1061	1328	2.09e-6	PROSPERO
internal_repeat_2	1215	1484	5.87e-11	PROSPERO
internal_repeat_3	1287	1507	1.52e-7	PROSPERO
internal_repeat_1	1307	1536	3.17e-15	PROSPERO
internal_repeat_5	1388	1758	5.53e-5	PROSPERO
low complexity region	1767	1778	N/A	INTRINSIC
low complexity region	2211	2235	N/A	INTRINSIC
low complexity region	2240	2399	N/A	INTRINSIC
low complexity region	2402	2420	N/A	INTRINSIC
low complexity region	2446	2458	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,682,514 (GRCm39)	G215V	probably benign	Het
Adamts1	C	A	16: 85,594,683 (GRCm39)	G652C	probably damaging	Het
Adck1	G	A	12: 88,368,887 (GRCm39)	A122T	possibly damaging	Het
Akap1	A	C	11: 88,736,659 (GRCm39)	M34R	probably damaging	Het
Apc2	C	T	10: 80,147,030 (GRCm39)	R695C	probably damaging	Het
Apon	T	A	10: 128,090,384 (GRCm39)	W21R	probably benign	Het
Arhgef16	T	C	4: 154,371,432 (GRCm39)	T254A	probably benign	Het
Arid5b	T	A	10: 67,933,632 (GRCm39)	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,254,242 (GRCm39)	I122L	possibly damaging	Het
Bckdhb	T	G	9: 83,892,379 (GRCm39)	V270G	probably damaging	Het
Cacna1d	A	G	14: 29,821,145 (GRCm39)	Y1146H	probably benign	Het
Carmil2	A	G	8: 106,423,668 (GRCm39)	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,084,912 (GRCm39)	V636A	probably benign	Het
Chd9	T	C	8: 91,704,178 (GRCm39)		probably null	Het
Csmd3	A	G	15: 47,561,569 (GRCm39)	S1336P		Het
Cubn	A	G	2: 13,352,961 (GRCm39)	Y1926H	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Eme1	A	T	11: 94,536,666 (GRCm39)	Y504*	probably null	Het
Enah	G	A	1: 181,746,009 (GRCm39)	A687V	unknown	Het
Endou	A	C	15: 97,611,747 (GRCm39)	V339G	probably damaging	Het
Ephb6	G	A	6: 41,591,539 (GRCm39)	R232H	probably benign	Het
Ephx2	G	A	14: 66,326,968 (GRCm39)	A409V	possibly damaging	Het
Esd	T	A	14: 74,983,007 (GRCm39)	C219*	probably null	Het
Fscb	A	T	12: 64,520,866 (GRCm39)	M200K	probably benign	Het
Gabra6	A	T	11: 42,208,508 (GRCm39)	V108D	probably damaging	Het
Gm11555	A	G	11: 99,540,568 (GRCm39)	V137A	unknown	Het
Gpld1	A	G	13: 25,146,383 (GRCm39)	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,719,256 (GRCm39)	I408N	probably damaging	Het
Itgb4	A	G	11: 115,894,536 (GRCm39)	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,506,509 (GRCm39)	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,199,427 (GRCm39)	W440R	probably benign	Het
Mtrr	C	T	13: 68,718,146 (GRCm39)	E373K	probably damaging	Het
Mug2	T	A	6: 122,058,317 (GRCm39)	V1293E	probably damaging	Het
Myof	C	A	19: 37,928,346 (GRCm39)	A1068S	probably benign	Het
Ncam2	A	G	16: 81,412,672 (GRCm39)	D720G	probably damaging	Het
Nova2	G	T	7: 18,692,176 (GRCm39)	G435V		Het
Oacyl	T	A	18: 65,843,631 (GRCm39)	D109E	probably damaging	Het
Or2y1g	A	T	11: 49,171,463 (GRCm39)	M163L	probably benign	Het
Or56a4	G	A	7: 104,806,232 (GRCm39)	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,288,358 (GRCm39)	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,740,018 (GRCm39)	D364E	probably benign	Het
Rigi	C	A	4: 40,225,104 (GRCm39)	A298S	probably damaging	Het
Rp1	T	C	1: 4,415,107 (GRCm39)	N2002D	probably benign	Het
Sall1	C	T	8: 89,768,979 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,477,198 (GRCm39)	W728*	probably null	Het
Setdb2	G	T	14: 59,656,813 (GRCm39)	T168K	probably damaging	Het
Sgms1	T	C	19: 32,137,276 (GRCm39)	I97V	probably benign	Het
Slc8a3	A	T	12: 81,361,325 (GRCm39)	M498K	probably benign	Het
Smpd4	A	T	16: 17,456,497 (GRCm39)	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,940,529 (GRCm39)	K881*	probably null	Het
Strn4	A	G	7: 16,564,309 (GRCm39)	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,870,890 (GRCm39)	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,935,730 (GRCm39)	R1773S	probably benign	Het
Thbs2	T	C	17: 14,897,321 (GRCm39)	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,224,572 (GRCm39)	T135I	probably damaging	Het
Tollip	A	G	7: 141,438,276 (GRCm39)	M218T	probably benign	Het
Tyk2	A	T	9: 21,031,554 (GRCm39)		probably null	Het
Ubr2	G	A	17: 47,296,974 (GRCm39)	R269C	probably damaging	Het
Uggt1	A	T	1: 36,185,806 (GRCm39)	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,786,730 (GRCm39)	V929A	probably benign	Het
Usp48	T	C	4: 137,321,763 (GRCm39)	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,218,631 (GRCm39)	E42K	not run	Het
Vmn1r83	G	T	7: 12,055,360 (GRCm39)	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,800,339 (GRCm39)	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,463,991 (GRCm39)	I281T	probably damaging	Het
Ywhag	A	T	5: 135,940,043 (GRCm39)	Y184N	probably damaging	Het
Zfp568	G	A	7: 29,722,839 (GRCm39)	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083 (GRCm39)	D248G	probably benign	Het

Other mutations in Zdbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Zdbf2	APN	1	63,345,673 (GRCm39)	missense	possibly damaging	0.92
IGL00796:Zdbf2	APN	1	63,346,364 (GRCm39)	missense	probably benign	0.04
IGL00801:Zdbf2	APN	1	63,342,197 (GRCm39)	missense	possibly damaging	0.66
IGL02803:Zdbf2	APN	1	63,342,236 (GRCm39)	missense	possibly damaging	0.46
R0143:Zdbf2	UTSW	1	63,347,233 (GRCm39)	missense	probably benign	0.01
R0147:Zdbf2	UTSW	1	63,343,165 (GRCm39)	nonsense	probably null
R0148:Zdbf2	UTSW	1	63,343,165 (GRCm39)	nonsense	probably null
R0433:Zdbf2	UTSW	1	63,345,302 (GRCm39)	missense	possibly damaging	0.46
R0502:Zdbf2	UTSW	1	63,344,449 (GRCm39)	missense	possibly damaging	0.66
R0645:Zdbf2	UTSW	1	63,344,109 (GRCm39)	missense	possibly damaging	0.81
R0765:Zdbf2	UTSW	1	63,344,882 (GRCm39)	missense	possibly damaging	0.46
R1068:Zdbf2	UTSW	1	63,342,589 (GRCm39)	missense	possibly damaging	0.94
R1216:Zdbf2	UTSW	1	63,342,161 (GRCm39)	missense	possibly damaging	0.83
R1235:Zdbf2	UTSW	1	63,348,232 (GRCm39)	missense	possibly damaging	0.66
R1352:Zdbf2	UTSW	1	63,342,212 (GRCm39)	missense	probably damaging	0.96
R1402:Zdbf2	UTSW	1	63,342,786 (GRCm39)	missense	possibly damaging	0.46
R1402:Zdbf2	UTSW	1	63,342,786 (GRCm39)	missense	possibly damaging	0.46
R1435:Zdbf2	UTSW	1	63,342,199 (GRCm39)	missense	possibly damaging	0.66
R1562:Zdbf2	UTSW	1	63,342,747 (GRCm39)	missense	possibly damaging	0.83
R1624:Zdbf2	UTSW	1	63,343,018 (GRCm39)	missense	possibly damaging	0.66
R1635:Zdbf2	UTSW	1	63,343,493 (GRCm39)	missense	possibly damaging	0.92
R1644:Zdbf2	UTSW	1	63,348,131 (GRCm39)	missense	possibly damaging	0.66
R1662:Zdbf2	UTSW	1	63,343,408 (GRCm39)	nonsense	probably null
R1700:Zdbf2	UTSW	1	63,341,900 (GRCm39)	missense	unknown
R1720:Zdbf2	UTSW	1	63,342,436 (GRCm39)	missense	possibly damaging	0.46
R1853:Zdbf2	UTSW	1	63,344,701 (GRCm39)	frame shift	probably null
R1854:Zdbf2	UTSW	1	63,344,701 (GRCm39)	frame shift	probably null
R1973:Zdbf2	UTSW	1	63,348,860 (GRCm39)	missense	unknown
R2336:Zdbf2	UTSW	1	63,342,623 (GRCm39)	missense	probably benign	0.00
R2428:Zdbf2	UTSW	1	63,344,774 (GRCm39)	missense	probably benign	0.04
R3010:Zdbf2	UTSW	1	63,342,224 (GRCm39)	missense	possibly damaging	0.92
R3034:Zdbf2	UTSW	1	63,343,364 (GRCm39)	missense	probably damaging	0.96
R3079:Zdbf2	UTSW	1	63,346,636 (GRCm39)	missense	probably benign	0.05
R3196:Zdbf2	UTSW	1	63,347,579 (GRCm39)	missense	possibly damaging	0.46
R3711:Zdbf2	UTSW	1	63,347,830 (GRCm39)	missense	possibly damaging	0.83
R3845:Zdbf2	UTSW	1	63,347,483 (GRCm39)	missense	possibly damaging	0.66
R4093:Zdbf2	UTSW	1	63,348,940 (GRCm39)	missense	possibly damaging	0.83
R4250:Zdbf2	UTSW	1	63,342,020 (GRCm39)	missense	possibly damaging	0.46
R4592:Zdbf2	UTSW	1	63,345,750 (GRCm39)	missense	possibly damaging	0.82
R4721:Zdbf2	UTSW	1	63,347,951 (GRCm39)	missense	possibly damaging	0.46
R4779:Zdbf2	UTSW	1	63,342,397 (GRCm39)	missense	possibly damaging	0.66
R4928:Zdbf2	UTSW	1	63,347,973 (GRCm39)	missense	possibly damaging	0.81
R4943:Zdbf2	UTSW	1	63,342,073 (GRCm39)	missense	possibly damaging	0.92
R5025:Zdbf2	UTSW	1	63,342,809 (GRCm39)	missense	possibly damaging	0.82
R5095:Zdbf2	UTSW	1	63,348,232 (GRCm39)	missense	possibly damaging	0.66
R5149:Zdbf2	UTSW	1	63,344,062 (GRCm39)	missense	possibly damaging	0.83
R5326:Zdbf2	UTSW	1	63,343,570 (GRCm39)	missense	possibly damaging	0.66
R5341:Zdbf2	UTSW	1	63,347,092 (GRCm39)	missense	probably benign	0.27
R5511:Zdbf2	UTSW	1	63,344,836 (GRCm39)	missense	probably benign	0.03
R5809:Zdbf2	UTSW	1	63,345,035 (GRCm39)	missense	possibly damaging	0.90
R5902:Zdbf2	UTSW	1	63,345,685 (GRCm39)	missense	possibly damaging	0.83
R6162:Zdbf2	UTSW	1	63,319,977 (GRCm39)	start gained	probably benign
R6245:Zdbf2	UTSW	1	63,343,592 (GRCm39)	missense	possibly damaging	0.46
R6332:Zdbf2	UTSW	1	63,346,981 (GRCm39)	missense	possibly damaging	0.66
R6361:Zdbf2	UTSW	1	63,342,480 (GRCm39)	missense	possibly damaging	0.66
R6489:Zdbf2	UTSW	1	63,346,637 (GRCm39)	missense	possibly damaging	0.46
R6517:Zdbf2	UTSW	1	63,344,679 (GRCm39)	missense	possibly damaging	0.81
R6624:Zdbf2	UTSW	1	63,343,073 (GRCm39)	missense	possibly damaging	0.46
R6643:Zdbf2	UTSW	1	63,343,667 (GRCm39)	missense	possibly damaging	0.82
R6786:Zdbf2	UTSW	1	63,343,679 (GRCm39)	missense	possibly damaging	0.46
R6808:Zdbf2	UTSW	1	63,347,687 (GRCm39)	missense	possibly damaging	0.66
R6896:Zdbf2	UTSW	1	63,348,031 (GRCm39)	missense	probably damaging	0.98
R6997:Zdbf2	UTSW	1	63,329,925 (GRCm39)	missense	probably benign	0.09
R7011:Zdbf2	UTSW	1	63,345,925 (GRCm39)	missense	possibly damaging	0.66
R7058:Zdbf2	UTSW	1	63,346,563 (GRCm39)	missense	possibly damaging	0.66
R7066:Zdbf2	UTSW	1	63,346,718 (GRCm39)	missense	probably benign
R7177:Zdbf2	UTSW	1	63,334,120 (GRCm39)	missense	possibly damaging	0.94
R7184:Zdbf2	UTSW	1	63,345,664 (GRCm39)	missense	possibly damaging	0.92
R7273:Zdbf2	UTSW	1	63,342,563 (GRCm39)	missense	possibly damaging	0.90
R7387:Zdbf2	UTSW	1	63,343,198 (GRCm39)	missense	possibly damaging	0.46
R7468:Zdbf2	UTSW	1	63,346,669 (GRCm39)	missense	probably benign
R7695:Zdbf2	UTSW	1	63,346,529 (GRCm39)	missense	possibly damaging	0.83
R7712:Zdbf2	UTSW	1	63,344,530 (GRCm39)	missense	possibly damaging	0.83
R7735:Zdbf2	UTSW	1	63,343,264 (GRCm39)	missense	possibly damaging	0.66
R7736:Zdbf2	UTSW	1	63,347,166 (GRCm39)	nonsense	probably null
R7796:Zdbf2	UTSW	1	63,342,583 (GRCm39)	missense	possibly damaging	0.90
R7908:Zdbf2	UTSW	1	63,345,986 (GRCm39)	missense	possibly damaging	0.46
R7970:Zdbf2	UTSW	1	63,343,330 (GRCm39)	missense	possibly damaging	0.92
R8076:Zdbf2	UTSW	1	63,345,260 (GRCm39)	missense	possibly damaging	0.92
R8152:Zdbf2	UTSW	1	63,345,572 (GRCm39)	missense	possibly damaging	0.92
R8195:Zdbf2	UTSW	1	63,343,225 (GRCm39)	missense	possibly damaging	0.83
R8272:Zdbf2	UTSW	1	63,345,142 (GRCm39)	missense	probably benign
R8306:Zdbf2	UTSW	1	63,343,234 (GRCm39)	missense	possibly damaging	0.66
R8309:Zdbf2	UTSW	1	63,345,750 (GRCm39)	missense	possibly damaging	0.82
R8323:Zdbf2	UTSW	1	63,342,073 (GRCm39)	missense	possibly damaging	0.46
R8400:Zdbf2	UTSW	1	63,344,135 (GRCm39)	missense	possibly damaging	0.92
R8443:Zdbf2	UTSW	1	63,345,166 (GRCm39)	missense	possibly damaging	0.83
R8460:Zdbf2	UTSW	1	63,348,729 (GRCm39)	small deletion	probably benign
R8528:Zdbf2	UTSW	1	63,342,545 (GRCm39)	missense	possibly damaging	0.82
R8812:Zdbf2	UTSW	1	63,347,272 (GRCm39)	missense	probably benign	0.00
R8962:Zdbf2	UTSW	1	63,347,162 (GRCm39)	missense	probably benign	0.00
R9061:Zdbf2	UTSW	1	63,346,296 (GRCm39)	missense
R9072:Zdbf2	UTSW	1	63,344,923 (GRCm39)	missense	possibly damaging	0.83
R9232:Zdbf2	UTSW	1	63,347,168 (GRCm39)	missense	possibly damaging	0.66
R9257:Zdbf2	UTSW	1	63,345,400 (GRCm39)	missense	probably damaging	1.00
R9411:Zdbf2	UTSW	1	63,343,288 (GRCm39)	missense	probably damaging	0.97
R9470:Zdbf2	UTSW	1	63,344,784 (GRCm39)	missense	possibly damaging	0.82
R9606:Zdbf2	UTSW	1	63,342,536 (GRCm39)	missense	possibly damaging	0.92
R9621:Zdbf2	UTSW	1	63,342,635 (GRCm39)	missense	possibly damaging	0.66
RF021:Zdbf2	UTSW	1	63,341,811 (GRCm39)	missense	possibly damaging	0.82
X0018:Zdbf2	UTSW	1	63,344,510 (GRCm39)	missense	possibly damaging	0.92
X0027:Zdbf2	UTSW	1	63,347,166 (GRCm39)	nonsense	probably null
X0057:Zdbf2	UTSW	1	63,344,549 (GRCm39)	missense	possibly damaging	0.66
X0063:Zdbf2	UTSW	1	63,344,696 (GRCm39)	missense	probably benign	0.04
Z1176:Zdbf2	UTSW	1	63,343,404 (GRCm39)	missense	possibly damaging	0.83
Z1177:Zdbf2	UTSW	1	63,348,362 (GRCm39)	missense	unknown
Z1177:Zdbf2	UTSW	1	63,343,245 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGTAAACAGTCTTGTTCCTTAGC -3'
(R):5'- ACAGTTCTCTTACGTCGTGGG -3'

Sequencing Primer
(F):5'- AAACAGTCTTGTTCCTTAGCAGAGGG -3'
(R):5'- GCCAGAAGAGGTGTGTTCTCTAC -3'

Posted On

2019-11-26