Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Zdbf2'

431198

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

043072-MU

Accession Numbers

Essential gene?

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

Stock #

R5511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63312424-63353735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63344836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1072 (S1072P)

Ref Sequence

ENSEMBL: ENSMUSP00000109767 (fasta)

Gene Model

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

AlphaFold

Q5SS00

Predicted Effect

probably benign
Transcript: ENSMUST00000029025
AA Change: S1072P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: S1072P

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

probably benign
Transcript: ENSMUST00000114132
AA Change: S1072P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: S1072P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	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
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
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'- GCTCTCAACCAACTTTCAAGTTTG -3'
(R):5'- TCAAGTTGATCCATTGCAGAACG -3'

Sequencing Primer
(F):5'- GATGTTTTTCCTCGGACAATGAC -3'
(R):5'- TTGATCCATTGCAGAACGAAAAG -3'

Posted On

2016-10-05