Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Zdbf2'

186802

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63273265-63314576 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 63304249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 596 (R596*)

Ref Sequence

ENSEMBL: ENSMUSP00000109767 (fasta)

Gene Model

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

AlphaFold

Q5SS00

Predicted Effect

probably null
Transcript: ENSMUST00000029025
AA Change: R596*

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: R596*

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

noncoding transcript
Transcript: ENSMUST00000083151

Predicted Effect

probably null
Transcript: ENSMUST00000114132
AA Change: R596*

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: R596*

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,611,682 (GRCm38)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,531,966 (GRCm38)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm38)		probably null	Het
Aff1	G	A	5: 103,841,057 (GRCm38)	G830D	probably damaging	Het
AI987944	T	C	7: 41,374,449 (GRCm38)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,000,113 (GRCm38)		probably null	Het
Arhgap40	C	G	2: 158,539,270 (GRCm38)	C349W	probably damaging	Het
Atic	T	A	1: 71,576,127 (GRCm38)	D438E	probably benign	Het
Barhl2	A	T	5: 106,453,499 (GRCm38)	M338K	probably benign	Het
Btd	T	C	14: 31,666,790 (GRCm38)	V156A	probably damaging	Het
Ccdc82	T	C	9: 13,262,772 (GRCm38)	V319A	probably damaging	Het
Celsr1	G	T	15: 86,031,062 (GRCm38)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,657,771 (GRCm38)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,244,937 (GRCm38)	T252I	probably benign	Het
Cma2	T	C	14: 55,973,116 (GRCm38)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,962,438 (GRCm38)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,810,548 (GRCm38)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,420,338 (GRCm38)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,250,979 (GRCm38)	T484I	possibly damaging	Het
Epas1	A	T	17: 86,829,027 (GRCm38)	K742N	probably damaging	Het
Evc2	A	G	5: 37,348,750 (GRCm38)	T138A	probably benign	Het
F5	T	C	1: 164,207,888 (GRCm38)	I1877T	probably damaging	Het
Fat1	T	G	8: 44,953,164 (GRCm38)	V984G	probably benign	Het
Fat4	T	A	3: 38,980,779 (GRCm38)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,256,894 (GRCm38)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,737,002 (GRCm38)	R120H	probably damaging	Het
Gcnt3	T	C	9: 70,034,377 (GRCm38)	D303G	probably benign	Het
Gm16432	A	G	1: 178,046,986 (GRCm38)	K140E	unknown	Het
Gng11	A	T	6: 4,008,066 (GRCm38)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,317,245 (GRCm38)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,560,596 (GRCm38)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,098,401 (GRCm38)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,328,212 (GRCm38)	D187E	probably damaging	Het
Klhl8	A	G	5: 103,872,045 (GRCm38)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,836,670 (GRCm38)		probably benign	Het
Krt12	C	A	11: 99,420,824 (GRCm38)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,606,757 (GRCm38)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261 (GRCm38)		probably null	Het
Map1a	C	G	2: 121,306,408 (GRCm38)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,625,172 (GRCm38)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,093,617 (GRCm38)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,241,618 (GRCm38)	I672L	probably benign	Het
Mybph	C	T	1: 134,193,636 (GRCm38)	P45S	probably benign	Het
Myo15	T	A	11: 60,501,701 (GRCm38)	S2157T	probably damaging	Het
Olfr113	G	T	17: 37,575,273 (GRCm38)	T50K	probably damaging	Het
Olfr193	T	C	16: 59,110,604 (GRCm38)	E2G	probably benign	Het
Olfr374	T	C	8: 72,109,779 (GRCm38)	V71A	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Otogl	A	G	10: 107,798,357 (GRCm38)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,551,639 (GRCm38)	F118L	probably damaging	Het
Pak7	T	C	2: 136,116,760 (GRCm38)	D136G	probably damaging	Het
Pik3r2	T	C	8: 70,770,606 (GRCm38)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,016,603 (GRCm38)	N372S	probably benign	Het
Prss30	G	T	17: 23,972,832 (GRCm38)	N238K	possibly damaging	Het
Prss33	C	A	17: 23,834,811 (GRCm38)		probably null	Het
Ptpn4	T	C	1: 119,765,058 (GRCm38)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,651,042 (GRCm38)	V130A	probably benign	Het
Rdh7	A	T	10: 127,888,612 (GRCm38)	M1K	probably null	Het
Rtp3	A	C	9: 110,986,683 (GRCm38)	S205A	probably benign	Het
Ryr3	G	T	2: 112,709,273 (GRCm38)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,483,459 (GRCm38)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,902,328 (GRCm38)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,608,979 (GRCm38)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,991,246 (GRCm38)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,716,628 (GRCm38)	D530G	probably benign	Het
Tcf25	T	A	8: 123,381,550 (GRCm38)	S115T	probably benign	Het
Tet2	A	G	3: 133,466,852 (GRCm38)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,561,898 (GRCm38)	R205*	probably null	Het
Ttc23	G	T	7: 67,725,321 (GRCm38)		probably null	Het
Unc13d	T	C	11: 116,068,673 (GRCm38)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,869,590 (GRCm38)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,117,130 (GRCm38)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,518,343 (GRCm38)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,828,122 (GRCm38)		probably null	Het
Zcchc6	T	C	13: 59,799,903 (GRCm38)	E466G	possibly damaging	Het

Other mutations in Zdbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Zdbf2	APN	1	63,306,514 (GRCm38)	missense	possibly damaging	0.92
IGL00796:Zdbf2	APN	1	63,307,205 (GRCm38)	missense	probably benign	0.04
IGL00801:Zdbf2	APN	1	63,303,038 (GRCm38)	missense	possibly damaging	0.66
IGL02803:Zdbf2	APN	1	63,303,077 (GRCm38)	missense	possibly damaging	0.46
R0143:Zdbf2	UTSW	1	63,308,074 (GRCm38)	missense	probably benign	0.01
R0147:Zdbf2	UTSW	1	63,304,006 (GRCm38)	nonsense	probably null
R0148:Zdbf2	UTSW	1	63,304,006 (GRCm38)	nonsense	probably null
R0433:Zdbf2	UTSW	1	63,306,143 (GRCm38)	missense	possibly damaging	0.46
R0502:Zdbf2	UTSW	1	63,305,290 (GRCm38)	missense	possibly damaging	0.66
R0645:Zdbf2	UTSW	1	63,304,950 (GRCm38)	missense	possibly damaging	0.81
R0765:Zdbf2	UTSW	1	63,305,723 (GRCm38)	missense	possibly damaging	0.46
R1068:Zdbf2	UTSW	1	63,303,430 (GRCm38)	missense	possibly damaging	0.94
R1216:Zdbf2	UTSW	1	63,303,002 (GRCm38)	missense	possibly damaging	0.83
R1235:Zdbf2	UTSW	1	63,309,073 (GRCm38)	missense	possibly damaging	0.66
R1352:Zdbf2	UTSW	1	63,303,053 (GRCm38)	missense	probably damaging	0.96
R1402:Zdbf2	UTSW	1	63,303,627 (GRCm38)	missense	possibly damaging	0.46
R1402:Zdbf2	UTSW	1	63,303,627 (GRCm38)	missense	possibly damaging	0.46
R1435:Zdbf2	UTSW	1	63,303,040 (GRCm38)	missense	possibly damaging	0.66
R1562:Zdbf2	UTSW	1	63,303,588 (GRCm38)	missense	possibly damaging	0.83
R1624:Zdbf2	UTSW	1	63,303,859 (GRCm38)	missense	possibly damaging	0.66
R1635:Zdbf2	UTSW	1	63,304,334 (GRCm38)	missense	possibly damaging	0.92
R1644:Zdbf2	UTSW	1	63,308,972 (GRCm38)	missense	possibly damaging	0.66
R1700:Zdbf2	UTSW	1	63,302,741 (GRCm38)	missense	unknown
R1720:Zdbf2	UTSW	1	63,303,277 (GRCm38)	missense	possibly damaging	0.46
R1853:Zdbf2	UTSW	1	63,305,542 (GRCm38)	frame shift	probably null
R1854:Zdbf2	UTSW	1	63,305,542 (GRCm38)	frame shift	probably null
R1973:Zdbf2	UTSW	1	63,309,701 (GRCm38)	missense	unknown
R2336:Zdbf2	UTSW	1	63,303,464 (GRCm38)	missense	probably benign	0.00
R2428:Zdbf2	UTSW	1	63,305,615 (GRCm38)	missense	probably benign	0.04
R3010:Zdbf2	UTSW	1	63,303,065 (GRCm38)	missense	possibly damaging	0.92
R3034:Zdbf2	UTSW	1	63,304,205 (GRCm38)	missense	probably damaging	0.96
R3079:Zdbf2	UTSW	1	63,307,477 (GRCm38)	missense	probably benign	0.05
R3196:Zdbf2	UTSW	1	63,308,420 (GRCm38)	missense	possibly damaging	0.46
R3711:Zdbf2	UTSW	1	63,308,671 (GRCm38)	missense	possibly damaging	0.83
R3845:Zdbf2	UTSW	1	63,308,324 (GRCm38)	missense	possibly damaging	0.66
R4093:Zdbf2	UTSW	1	63,309,781 (GRCm38)	missense	possibly damaging	0.83
R4250:Zdbf2	UTSW	1	63,302,861 (GRCm38)	missense	possibly damaging	0.46
R4592:Zdbf2	UTSW	1	63,306,591 (GRCm38)	missense	possibly damaging	0.82
R4721:Zdbf2	UTSW	1	63,308,792 (GRCm38)	missense	possibly damaging	0.46
R4779:Zdbf2	UTSW	1	63,303,238 (GRCm38)	missense	possibly damaging	0.66
R4928:Zdbf2	UTSW	1	63,308,814 (GRCm38)	missense	possibly damaging	0.81
R4943:Zdbf2	UTSW	1	63,302,914 (GRCm38)	missense	possibly damaging	0.92
R5025:Zdbf2	UTSW	1	63,303,650 (GRCm38)	missense	possibly damaging	0.82
R5095:Zdbf2	UTSW	1	63,309,073 (GRCm38)	missense	possibly damaging	0.66
R5149:Zdbf2	UTSW	1	63,304,903 (GRCm38)	missense	possibly damaging	0.83
R5326:Zdbf2	UTSW	1	63,304,411 (GRCm38)	missense	possibly damaging	0.66
R5341:Zdbf2	UTSW	1	63,307,933 (GRCm38)	missense	probably benign	0.27
R5511:Zdbf2	UTSW	1	63,305,677 (GRCm38)	missense	probably benign	0.03
R5809:Zdbf2	UTSW	1	63,305,876 (GRCm38)	missense	possibly damaging	0.90
R5902:Zdbf2	UTSW	1	63,306,526 (GRCm38)	missense	possibly damaging	0.83
R6162:Zdbf2	UTSW	1	63,280,818 (GRCm38)	start gained	probably benign
R6245:Zdbf2	UTSW	1	63,304,433 (GRCm38)	missense	possibly damaging	0.46
R6332:Zdbf2	UTSW	1	63,307,822 (GRCm38)	missense	possibly damaging	0.66
R6361:Zdbf2	UTSW	1	63,303,321 (GRCm38)	missense	possibly damaging	0.66
R6489:Zdbf2	UTSW	1	63,307,478 (GRCm38)	missense	possibly damaging	0.46
R6517:Zdbf2	UTSW	1	63,305,520 (GRCm38)	missense	possibly damaging	0.81
R6624:Zdbf2	UTSW	1	63,303,914 (GRCm38)	missense	possibly damaging	0.46
R6643:Zdbf2	UTSW	1	63,304,508 (GRCm38)	missense	possibly damaging	0.82
R6786:Zdbf2	UTSW	1	63,304,520 (GRCm38)	missense	possibly damaging	0.46
R6808:Zdbf2	UTSW	1	63,308,528 (GRCm38)	missense	possibly damaging	0.66
R6896:Zdbf2	UTSW	1	63,308,872 (GRCm38)	missense	probably damaging	0.98
R6997:Zdbf2	UTSW	1	63,290,766 (GRCm38)	missense	probably benign	0.09
R7011:Zdbf2	UTSW	1	63,306,766 (GRCm38)	missense	possibly damaging	0.66
R7058:Zdbf2	UTSW	1	63,307,404 (GRCm38)	missense	possibly damaging	0.66
R7066:Zdbf2	UTSW	1	63,307,559 (GRCm38)	missense	probably benign
R7177:Zdbf2	UTSW	1	63,294,961 (GRCm38)	missense	possibly damaging	0.94
R7184:Zdbf2	UTSW	1	63,306,505 (GRCm38)	missense	possibly damaging	0.92
R7273:Zdbf2	UTSW	1	63,303,404 (GRCm38)	missense	possibly damaging	0.90
R7387:Zdbf2	UTSW	1	63,304,039 (GRCm38)	missense	possibly damaging	0.46
R7468:Zdbf2	UTSW	1	63,307,510 (GRCm38)	missense	probably benign
R7695:Zdbf2	UTSW	1	63,307,370 (GRCm38)	missense	possibly damaging	0.83
R7712:Zdbf2	UTSW	1	63,305,371 (GRCm38)	missense	possibly damaging	0.83
R7735:Zdbf2	UTSW	1	63,304,105 (GRCm38)	missense	possibly damaging	0.66
R7736:Zdbf2	UTSW	1	63,308,007 (GRCm38)	nonsense	probably null
R7759:Zdbf2	UTSW	1	63,308,376 (GRCm38)	missense	possibly damaging	0.46
R7796:Zdbf2	UTSW	1	63,303,424 (GRCm38)	missense	possibly damaging	0.90
R7908:Zdbf2	UTSW	1	63,306,827 (GRCm38)	missense	possibly damaging	0.46
R7970:Zdbf2	UTSW	1	63,304,171 (GRCm38)	missense	possibly damaging	0.92
R8076:Zdbf2	UTSW	1	63,306,101 (GRCm38)	missense	possibly damaging	0.92
R8152:Zdbf2	UTSW	1	63,306,413 (GRCm38)	missense	possibly damaging	0.92
R8195:Zdbf2	UTSW	1	63,304,066 (GRCm38)	missense	possibly damaging	0.83
R8272:Zdbf2	UTSW	1	63,305,983 (GRCm38)	missense	probably benign
R8306:Zdbf2	UTSW	1	63,304,075 (GRCm38)	missense	possibly damaging	0.66
R8309:Zdbf2	UTSW	1	63,306,591 (GRCm38)	missense	possibly damaging	0.82
R8323:Zdbf2	UTSW	1	63,302,914 (GRCm38)	missense	possibly damaging	0.46
R8400:Zdbf2	UTSW	1	63,304,976 (GRCm38)	missense	possibly damaging	0.92
R8443:Zdbf2	UTSW	1	63,306,007 (GRCm38)	missense	possibly damaging	0.83
R8460:Zdbf2	UTSW	1	63,309,570 (GRCm38)	small deletion	probably benign
R8528:Zdbf2	UTSW	1	63,303,386 (GRCm38)	missense	possibly damaging	0.82
R8812:Zdbf2	UTSW	1	63,308,113 (GRCm38)	missense	probably benign	0.00
R8962:Zdbf2	UTSW	1	63,308,003 (GRCm38)	missense	probably benign	0.00
R9061:Zdbf2	UTSW	1	63,307,137 (GRCm38)	missense
R9072:Zdbf2	UTSW	1	63,305,764 (GRCm38)	missense	possibly damaging	0.83
R9232:Zdbf2	UTSW	1	63,308,009 (GRCm38)	missense	possibly damaging	0.66
R9257:Zdbf2	UTSW	1	63,306,241 (GRCm38)	missense	probably damaging	1.00
R9411:Zdbf2	UTSW	1	63,304,129 (GRCm38)	missense	probably damaging	0.97
R9470:Zdbf2	UTSW	1	63,305,625 (GRCm38)	missense	possibly damaging	0.82
R9606:Zdbf2	UTSW	1	63,303,377 (GRCm38)	missense	possibly damaging	0.92
R9621:Zdbf2	UTSW	1	63,303,476 (GRCm38)	missense	possibly damaging	0.66
RF021:Zdbf2	UTSW	1	63,302,652 (GRCm38)	missense	possibly damaging	0.82
X0018:Zdbf2	UTSW	1	63,305,351 (GRCm38)	missense	possibly damaging	0.92
X0027:Zdbf2	UTSW	1	63,308,007 (GRCm38)	nonsense	probably null
X0057:Zdbf2	UTSW	1	63,305,390 (GRCm38)	missense	possibly damaging	0.66
X0063:Zdbf2	UTSW	1	63,305,537 (GRCm38)	missense	probably benign	0.04
Z1176:Zdbf2	UTSW	1	63,304,245 (GRCm38)	missense	possibly damaging	0.83
Z1177:Zdbf2	UTSW	1	63,309,203 (GRCm38)	missense	unknown
Z1177:Zdbf2	UTSW	1	63,304,086 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCACTACCGTCAACTAGTCACCGTC -3'
(R):5'- GACTCACAGTTCATATCCCCAAGGC -3'

Sequencing Primer
(F):5'- CTGAACCATGTGAGGATTCCG -3'
(R):5'- CATATCCCCAAGGCTGGTATTC -3'

Posted On

2014-05-09