Mutagenetix > Incidental Mutation

Incidental Mutation 'R6624:Zdbf2'

524643

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

044746-MU

Accession Numbers

Essential gene?

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

Stock #

R6624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63312424-63353735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63343073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 484 (I484T)

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: I484T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: I484T

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

possibly damaging
Transcript: ENSMUST00000114132
AA Change: I484T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: I484T

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: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (32/32)

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
Ank3	G	A	10: 69,740,298 (GRCm39)	E852K	possibly damaging	Het
Cib3	T	A	8: 72,959,582 (GRCm39)	I96F	probably damaging	Het
Ckap5	C	T	2: 91,407,996 (GRCm39)	P841S	probably benign	Het
Col25a1	A	G	3: 130,360,100 (GRCm39)		probably null	Het
Col27a1	A	T	4: 63,143,248 (GRCm39)	H312L	probably benign	Het
Cyp2j7	A	G	4: 96,115,855 (GRCm39)	I197T	probably damaging	Het
Cyp4f40	C	T	17: 32,890,154 (GRCm39)	R275C	possibly damaging	Het
Eif3l	T	C	15: 78,974,129 (GRCm39)	S515P	probably damaging	Het
Enpp1	A	T	10: 24,545,653 (GRCm39)	Y262*	probably null	Het
Ergic3	T	A	2: 155,858,818 (GRCm39)	M286K	probably damaging	Het
Ern2	C	T	7: 121,777,006 (GRCm39)	A305T	probably benign	Het
Fam187b	A	G	7: 30,676,612 (GRCm39)	I40M	probably benign	Het
Fcho1	T	G	8: 72,162,015 (GRCm39)	K798T	probably damaging	Het
Iah1	C	T	12: 21,369,785 (GRCm39)	Q100*	probably null	Het
Jak2	T	C	19: 29,259,989 (GRCm39)	I296T	probably damaging	Het
Lats2	A	G	14: 57,931,769 (GRCm39)		probably null	Het
Lrriq4	A	T	3: 30,704,929 (GRCm39)	H319L	probably benign	Het
Man2b1	A	G	8: 85,823,482 (GRCm39)	N939D	probably benign	Het
Meis1	T	C	11: 18,966,215 (GRCm39)	T53A	probably benign	Het
Nadsyn1	C	T	7: 143,359,710 (GRCm39)	E421K	probably benign	Het
Or10a3m	T	C	7: 108,312,743 (GRCm39)	I49T	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pmfbp1	T	C	8: 110,256,822 (GRCm39)	S509P	possibly damaging	Het
Pou4f3	A	T	18: 42,528,707 (GRCm39)	I217F	probably damaging	Het
Ppara	C	A	15: 85,675,237 (GRCm39)	N235K	probably benign	Het
Prrg2	T	C	7: 44,709,410 (GRCm39)	Y73C	probably damaging	Het
Sdccag8	T	A	1: 176,702,378 (GRCm39)		probably null	Het
Thap12	T	G	7: 98,364,793 (GRCm39)	Y320*	probably null	Het
Trpm6	A	G	19: 18,773,803 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,866,384 (GRCm39)	C1978S	probably damaging	Het
Usp33	A	G	3: 152,087,435 (GRCm39)	Y708C	probably damaging	Het
Wdr3	G	A	3: 100,051,642 (GRCm39)	T669M	probably damaging	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
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
R7759:Zdbf2	UTSW	1	63,347,535 (GRCm39)	missense	possibly damaging	0.46
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'- TCTTGTCAGTCGCTGAGTGC -3'
(R):5'- TTGCATGGGTGTTCCTCAC -3'

Sequencing Primer
(F):5'- GAGTGCCCTATCTGAACTGAC -3'
(R):5'- ATGCTGCTGGAGTCTCATCAG -3'

Posted On

2018-06-22