Mutagenetix > Incidental Mutation

Incidental Mutation 'R9061:Zdbf2'

688952

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

068887-MU

Accession Numbers

Essential gene?

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

Stock #

R9061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63312424-63353735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63346296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1558 (S1558R)

Ref Sequence

ENSEMBL: ENSMUSP00000029025 (fasta)

Gene Model

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

AlphaFold

Q5SS00

Predicted Effect

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: S1558R

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: S1558R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: S1558R

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

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,133 (GRCm39)	M1T	probably null	Het
Abca13	A	G	11: 9,227,847 (GRCm39)	E630G	probably benign	Het
Abcf2	T	A	5: 24,778,504 (GRCm39)	H218L	possibly damaging	Het
Abo	A	T	2: 26,733,395 (GRCm39)	M268K	probably benign	Het
Ankrd33	G	T	15: 101,014,029 (GRCm39)		probably benign	Het
Apc	G	C	18: 34,446,251 (GRCm39)	R1049T	probably damaging	Het
Atg16l2	T	C	7: 100,941,338 (GRCm39)	K412E	probably damaging	Het
Cachd1	G	A	4: 100,809,202 (GRCm39)		probably null	Het
Ccdc152	T	G	15: 3,330,643 (GRCm39)	K11Q	probably damaging	Het
Ccdc38	T	A	10: 93,401,735 (GRCm39)	W232R	probably damaging	Het
Cluh	C	T	11: 74,551,192 (GRCm39)	P347L	possibly damaging	Het
Cntn3	A	G	6: 102,314,288 (GRCm39)	L142P	probably damaging	Het
Ctnnd2	T	A	15: 30,806,884 (GRCm39)	M601K	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,734 (GRCm39)	D209N	unknown	Het
Dcaf6	A	T	1: 165,164,332 (GRCm39)	N814K	probably damaging	Het
Dhx8	A	T	11: 101,632,406 (GRCm39)	D455V	possibly damaging	Het
Fcna	A	C	2: 25,514,956 (GRCm39)	L301W	possibly damaging	Het
Garin1b	C	T	6: 29,323,902 (GRCm39)	T209I	probably benign	Het
Gdf9	T	G	11: 53,324,269 (GRCm39)	C13G	probably damaging	Het
Hells	T	A	19: 38,933,858 (GRCm39)	N226K	probably damaging	Het
Hes6	A	G	1: 91,340,061 (GRCm39)	S132P	probably damaging	Het
Ifi207	A	T	1: 173,564,153 (GRCm39)		probably benign	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kirrel2	T	C	7: 30,150,305 (GRCm39)	I508V	probably benign	Het
Klhl38	T	A	15: 58,186,022 (GRCm39)	I236F	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lamc1	A	T	1: 153,126,870 (GRCm39)	C425*	probably null	Het
Letm1	A	G	5: 33,918,213 (GRCm39)	F311L	probably damaging	Het
Lypd11	A	T	7: 24,422,173 (GRCm39)	I192N	possibly damaging	Het
Mapk8ip2	T	C	15: 89,342,016 (GRCm39)	V409A	possibly damaging	Het
Mybpc1	C	T	10: 88,391,501 (GRCm39)	C318Y	probably damaging	Het
Myo15a	A	G	11: 60,393,692 (GRCm39)	Y1141C		Het
Ndufv2	T	A	17: 66,390,475 (GRCm39)	D165V	probably damaging	Het
Nrde2	T	C	12: 100,110,123 (GRCm39)	K303E	probably benign	Het
Nup205	T	A	6: 35,196,808 (GRCm39)		probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2f2	A	T	6: 42,767,141 (GRCm39)	H56L	probably damaging	Het
Or5b118	A	G	19: 13,448,523 (GRCm39)	N21S	probably damaging	Het
Otof	C	T	5: 30,546,001 (GRCm39)	V451I	possibly damaging	Het
Pask	G	A	1: 93,253,191 (GRCm39)	Q399*	probably null	Het
Pbk	T	A	14: 66,049,439 (GRCm39)	F39I	probably benign	Het
Pdzd2	T	C	15: 12,374,753 (GRCm39)	K1794R	possibly damaging	Het
Pibf1	T	C	14: 99,424,069 (GRCm39)		probably null	Het
Ppip5k2	G	A	1: 97,645,187 (GRCm39)	T1089I	probably damaging	Het
Ppp1cb	T	A	5: 32,635,492 (GRCm39)	F45L	possibly damaging	Het
Pramel21	T	G	4: 143,342,741 (GRCm39)	S283A	possibly damaging	Het
Samd4	T	C	14: 47,301,728 (GRCm39)	F344S	probably damaging	Het
Slc2a13	C	T	15: 91,234,333 (GRCm39)	M334I	possibly damaging	Het
Slc37a1	C	T	17: 31,556,365 (GRCm39)	A363V	probably damaging	Het
Slc8a3	T	A	12: 81,263,540 (GRCm39)	I616F	probably damaging	Het
Srcin1	A	G	11: 97,427,206 (GRCm39)	L257P	probably damaging	Het
Tarbp1	A	G	8: 127,173,880 (GRCm39)	F945L	probably damaging	Het
Thbs4	A	T	13: 92,911,187 (GRCm39)		probably null	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim62	G	A	4: 128,802,963 (GRCm39)	V338M	probably damaging	Het
Ttll9	C	T	2: 152,818,113 (GRCm39)	H20Y	possibly damaging	Het
Uevld	A	T	7: 46,587,806 (GRCm39)	I298N	probably damaging	Het
Zan	T	C	5: 137,462,653 (GRCm39)	E842G	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
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
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
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'- TGCTGTTCATCTGCAGTCAG -3'
(R):5'- GTCACTGACTGAGAGGCTTC -3'

Sequencing Primer
(F):5'- CCTCAAGTGGCTTGCAAAG -3'
(R):5'- GTCACTGACTGAGAGGCTTCATAATC -3'

Posted On

2021-11-19