Mutagenetix > Incidental Mutation

Incidental Mutation 'R6517:Zdbf2'

520773

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

044644-MU

Accession Numbers

Essential gene?

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

Stock #

R6517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63273265-63314576 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63305520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1019 (D1019E)

Ref Sequence

ENSEMBL: ENSMUSP00000109767 (fasta)

Gene Model

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

AlphaFold

Q5SS00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029025
AA Change: D1019E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: D1019E

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: D1019E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: D1019E

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	T	14: 29,982,716 (GRCm38)	Q58*	probably null	Het
Adamts20	A	C	15: 94,283,104 (GRCm38)		probably null	Het
Alpk3	T	A	7: 81,078,579 (GRCm38)	S486T	possibly damaging	Het
Cep162	T	A	9: 87,222,174 (GRCm38)	E553V	probably damaging	Het
Epha5	T	C	5: 84,156,501 (GRCm38)	I370V	possibly damaging	Het
Ets1	A	T	9: 32,752,797 (GRCm38)		probably null	Het
Fbxo38	C	T	18: 62,533,563 (GRCm38)	E180K	probably damaging	Het
Fscn1	A	G	5: 142,971,986 (GRCm38)	D296G	probably damaging	Het
Glul	A	G	1: 153,908,033 (GRCm38)	I325V	probably benign	Het
Keg1	A	G	19: 12,715,910 (GRCm38)	D99G	probably benign	Het
Krt1	A	T	15: 101,850,267 (GRCm38)	V154D	possibly damaging	Het
Mdfic	T	A	6: 15,770,325 (GRCm38)	I110N	probably damaging	Het
Myo1g	T	C	11: 6,512,509 (GRCm38)	N541D	probably damaging	Het
Nos3	T	A	5: 24,383,624 (GRCm38)	V1116D	probably damaging	Het
Olfr1098	A	G	2: 86,923,097 (GRCm38)	I145T	probably benign	Het
Piwil2	G	T	14: 70,374,336 (GRCm38)	Q954K	probably benign	Het
Ppm1l	T	C	3: 69,317,583 (GRCm38)	M6T	probably damaging	Het
Scn3a	T	A	2: 65,497,563 (GRCm38)	E861V	possibly damaging	Het
Senp2	C	T	16: 22,026,724 (GRCm38)	T236M	possibly damaging	Het
Sgo2b	A	T	8: 63,931,494 (GRCm38)	V156D	probably damaging	Het
Sis	T	C	3: 72,907,142 (GRCm38)	Y1585C	probably damaging	Het
Slc22a22	A	G	15: 57,250,969 (GRCm38)	S321P	probably benign	Het
Slu7	T	A	11: 43,438,148 (GRCm38)	Y66N	probably damaging	Het
Stra6l	A	G	4: 45,879,473 (GRCm38)	H365R	probably benign	Het
Stt3b	T	C	9: 115,267,342 (GRCm38)	T246A	probably benign	Het
Taf1c	T	G	8: 119,604,247 (GRCm38)	N44T	possibly damaging	Het
Tcirg1	C	T	19: 3,901,933 (GRCm38)	V376M	probably damaging	Het
Tkt	A	G	14: 30,549,323 (GRCm38)	D17G	probably damaging	Het
Tle6	G	A	10: 81,591,976 (GRCm38)	H482Y	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,345 (GRCm38)	V672A	probably benign	Het
Zfp608	A	T	18: 54,899,078 (GRCm38)	C597S	possibly damaging	Het
Zfp986	G	C	4: 145,899,300 (GRCm38)	D177H	probably benign	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
R1662:Zdbf2	UTSW	1	63,304,249 (GRCm38)	nonsense	probably null
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
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'- TCGCAAATGTGAAGTAGTTGTC -3'
(R):5'- CACAGTTTTCGTTTGAGGCTAAC -3'

Sequencing Primer
(F):5'- GTCTGTCTTCAAAAAGAAAAGCATGC -3'
(R):5'- CTAACTGAGGCTGGCTAAGGACTG -3'

Posted On

2018-06-06