Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Zdbf2'

267618

Institutional Source

Beutler Lab

Gene Symbol

Zdbf2

Ensembl Gene

ENSMUSG00000027520

Gene Name

zinc finger, DBF-type containing 2

Synonyms

4930431J08Rik, 9330107J05Rik

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63312424-63353735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63347579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1986 (V1986A)

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: V1986A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: V1986A

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: V1986A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: V1986A

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	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
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
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'- TGGAATTCAAGCAAGTTCTGGG -3'
(R):5'- TATCGTCTCCTGCATTGGGC -3'

Sequencing Primer
(F):5'- TTCAAGCAAGTTCTGGGAAGAAAAG -3'
(R):5'- GGGTCATGCCTATTAAGATCAATGCC -3'

Posted On

2015-02-18