Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Zdbf2'

596223

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

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

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63273265-63314576 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 63308007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1848 (Y1848*)

Ref Sequence

ENSEMBL: ENSMUSP00000109767 (fasta)

Gene Model

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

AlphaFold

Q5SS00

Predicted Effect

probably null
Transcript: ENSMUST00000029025
AA Change: Y1848*

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: Y1848*

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 null
Transcript: ENSMUST00000114132
AA Change: Y1848*

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: Y1848*

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: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,319,964 (GRCm38)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,005,337 (GRCm38)	F204S	probably benign	Het
Apoa2	T	C	1: 171,226,172 (GRCm38)	L72P	probably damaging	Het
Arhgef10	A	T	8: 14,980,583 (GRCm38)	K987*	probably null	Het
Arrb1	A	G	7: 99,539,774 (GRCm38)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm38)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,387,164 (GRCm38)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,585,193 (GRCm38)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,893,790 (GRCm38)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,312,105 (GRCm38)	G261R	probably benign	Het
Cd53	T	A	3: 106,767,936 (GRCm38)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,053,520 (GRCm38)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,781,211 (GRCm38)	V256L	unknown	Het
Cilp2	A	G	8: 69,881,421 (GRCm38)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,261,555 (GRCm38)	T107A	possibly damaging	Het
Dhx16	T	A	17: 35,881,676 (GRCm38)	W167R	possibly damaging	Het
Dkk2	T	G	3: 132,178,014 (GRCm38)	L225R	probably damaging	Het
Dmbt1	A	T	7: 131,116,896 (GRCm38)	D1782V	unknown	Het
Ebag9	A	T	15: 44,628,404 (GRCm38)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,477,317 (GRCm38)	N144D	possibly damaging	Het
Foxk2	A	T	11: 121,299,647 (GRCm38)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 155,087,110 (GRCm38)	I427L	probably benign	Het
Ganc	A	T	2: 120,433,814 (GRCm38)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm38)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,990,524 (GRCm38)	V534E	probably damaging	Het
Gm6904	C	T	14: 59,251,145 (GRCm38)	D68N	probably benign	Het
Gm7324	T	A	14: 43,714,799 (GRCm38)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,615,453 (GRCm38)	N733K	possibly damaging	Het
Hivep3	C	T	4: 120,095,543 (GRCm38)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,445,664 (GRCm38)	V266G	probably benign	Het
Ikbkap	T	C	4: 56,776,920 (GRCm38)	T626A	possibly damaging	Het
Ip6k1	G	T	9: 108,045,692 (GRCm38)	G341V	probably damaging	Het
Itga3	G	T	11: 95,076,203 (GRCm38)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,457,940 (GRCm38)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,702,364 (GRCm38)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,497,459 (GRCm38)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,630,360 (GRCm38)	T444A	probably benign	Het
M1ap	T	C	6: 83,005,584 (GRCm38)	I283T	probably benign	Het
Mapre2	T	C	18: 23,877,955 (GRCm38)	S207P	probably benign	Het
Moxd1	T	C	10: 24,282,710 (GRCm38)	F421L	probably damaging	Het
Nos2	T	A	11: 78,922,366 (GRCm38)	C33*	probably null	Het
Olfr115	A	T	17: 37,610,412 (GRCm38)	L113H	probably damaging	Het
Olfr154	T	C	2: 85,664,414 (GRCm38)	T7A	probably damaging	Het
Olfr345	A	T	2: 36,640,185 (GRCm38)	I49F	probably damaging	Het
Otud4	T	C	8: 79,655,765 (GRCm38)	I201T	possibly damaging	Het
Pank4	T	C	4: 154,969,747 (GRCm38)	Y128H	probably benign	Het
Pitpnm2	A	G	5: 124,123,030 (GRCm38)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,969,623 (GRCm38)	V8A	probably benign	Het
Por	A	G	5: 135,731,122 (GRCm38)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,381,580 (GRCm38)	L14*	probably null	Het
Ptgis	A	G	2: 167,191,971 (GRCm38)	F459S	unknown	Het
Ptpru	T	C	4: 131,788,382 (GRCm38)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541 (GRCm38)		probably benign	Het
Slc18a1	A	G	8: 69,065,554 (GRCm38)		probably null	Het
Slc27a3	A	G	3: 90,389,433 (GRCm38)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,664,818 (GRCm38)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,367,724 (GRCm38)	M57K	probably benign	Het
Syncrip	A	G	9: 88,461,668 (GRCm38)		probably null	Het
Taar4	T	A	10: 23,960,999 (GRCm38)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,032,466 (GRCm38)	G237D	probably benign	Het
Tle1	T	C	4: 72,199,334 (GRCm38)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,940,568 (GRCm38)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm38)	F698L	probably benign	Het
Ttn	T	A	2: 76,909,230 (GRCm38)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,452,891 (GRCm38)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,012,983 (GRCm38)	A321E	unknown	Het
Zfand2b	T	A	1: 75,169,532 (GRCm38)	N61K	probably null	Het
Zfp867	C	T	11: 59,463,190 (GRCm38)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,195,509 (GRCm38)	T404I	probably benign	Het
Zrsr1	C	T	11: 22,973,510 (GRCm38)	Q95*	probably null	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
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'- CCAGGGTAAGAAAGTGACTTTTGAC -3'
(R):5'- ATGAAGCCCCTCTGCTAAGG -3'

Sequencing Primer
(F):5'- GGTAAGAAAGTGACTTTTGACTTGAG -3'
(R):5'- CTGCTAAGGAACAAGACTGTTTACC -3'

Posted On

2019-11-26