Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Zdbf2'

647794

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

067763-MU

Accession Numbers

Essential gene?

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

Stock #

R8400 (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 A at 63304976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 838 (V838E)

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: V838E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: V838E

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: V838E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: V838E

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: 99.9%
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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,298,218 (GRCm38)	I2655T	probably damaging	Het
Abca13	G	A	11: 9,293,925 (GRCm38)	M1929I	probably benign	Het
Acad10	A	G	5: 121,626,205 (GRCm38)	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172 (GRCm38)	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100 (GRCm38)	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494 (GRCm38)	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747 (GRCm38)	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796 (GRCm38)	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288 (GRCm38)	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205 (GRCm38)	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838 (GRCm38)		probably null	Het
Disc1	T	C	8: 125,232,993 (GRCm38)	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587 (GRCm38)	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753 (GRCm38)	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816 (GRCm38)	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573 (GRCm38)	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417 (GRCm38)	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477 (GRCm38)	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093 (GRCm38)	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092 (GRCm38)	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518 (GRCm38)	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476 (GRCm38)	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006 (GRCm38)	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012 (GRCm38)	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465 (GRCm38)	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402 (GRCm38)	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915 (GRCm38)	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214 (GRCm38)	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395 (GRCm38)	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669 (GRCm38)	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093 (GRCm38)	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378 (GRCm38)	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400 (GRCm38)	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888 (GRCm38)	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572 (GRCm38)		probably benign	Het
Samhd1	T	C	2: 157,099,433 (GRCm38)	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127 (GRCm38)	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730 (GRCm38)	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Stra6l	G	A	4: 45,864,905 (GRCm38)	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649 (GRCm38)	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987 (GRCm38)	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005 (GRCm38)	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880 (GRCm38)	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527 (GRCm38)	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100 (GRCm38)	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768 (GRCm38)	H191R	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
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
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'- ATATTCCCGATGACTCAGTAGC -3'
(R):5'- TCCGGGCTTTGAATTAACAGAG -3'

Sequencing Primer
(F):5'- CGATGACTCAGTAGCTGACC -3'
(R):5'- TTCAGAATCAGTAGGTTCATTTTCC -3'

Posted On

2020-09-02