Incidental Mutation 'R1235:Zdbf2'
| ID |
152396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdbf2
|
| Ensembl Gene |
ENSMUSG00000027520 |
| Gene Name |
zinc finger, DBF-type containing 2 |
| Synonyms |
4930431J08Rik, 9330107J05Rik |
| MMRRC Submission |
039303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
63273265-63314576 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63309073 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 2204
(T2204A)
|
| 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: T2204A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: T2204A
| 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: T2204A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: T2204A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsg |
T |
C |
11: 109,534,107 |
|
probably null |
Het |
| Col6a1 |
C |
A |
10: 76,712,324 |
A633S |
unknown |
Het |
| Dnajb3 |
C |
T |
1: 88,205,479 |
R67H |
probably benign |
Het |
| Fam53c |
T |
A |
18: 34,768,258 |
L76Q |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,430,293 |
Y548N |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,242,103 |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,524,036 |
V483I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,789,543 |
Y808F |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,386,693 |
G307S |
probably damaging |
Het |
| Olfr1132 |
T |
G |
2: 87,634,815 |
|
probably null |
Het |
| Pcdhb13 |
T |
C |
18: 37,444,959 |
*797Q |
probably null |
Het |
| Plcb4 |
G |
A |
2: 135,972,948 |
G719R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,028,734 |
T143S |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,634,535 |
V238M |
probably damaging |
Het |
| Sema5a |
A |
T |
15: 32,609,226 |
Y426F |
probably benign |
Het |
| Trpc7 |
G |
T |
13: 56,887,539 |
H194N |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,279,479 |
F165I |
probably benign |
Het |
| Zp2 |
A |
T |
7: 120,138,343 |
F240I |
possibly damaging |
Het |
|
| Other mutations in Zdbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Zdbf2
|
APN |
1 |
63306514 |
missense |
possibly damaging |
0.92 |
|
IGL00796:Zdbf2
|
APN |
1 |
63307205 |
missense |
probably benign |
0.04 |
|
IGL00801:Zdbf2
|
APN |
1 |
63303038 |
missense |
possibly damaging |
0.66 |
|
IGL02803:Zdbf2
|
APN |
1 |
63303077 |
missense |
possibly damaging |
0.46 |
|
R0143:Zdbf2
|
UTSW |
1 |
63308074 |
missense |
probably benign |
0.01 |
|
R0147:Zdbf2
|
UTSW |
1 |
63304006 |
nonsense |
probably null |
|
|
R0148:Zdbf2
|
UTSW |
1 |
63304006 |
nonsense |
probably null |
|
|
R0433:Zdbf2
|
UTSW |
1 |
63306143 |
missense |
possibly damaging |
0.46 |
|
R0502:Zdbf2
|
UTSW |
1 |
63305290 |
missense |
possibly damaging |
0.66 |
|
R0645:Zdbf2
|
UTSW |
1 |
63304950 |
missense |
possibly damaging |
0.81 |
|
R0765:Zdbf2
|
UTSW |
1 |
63305723 |
missense |
possibly damaging |
0.46 |
|
R1068:Zdbf2
|
UTSW |
1 |
63303430 |
missense |
possibly damaging |
0.94 |
|
R1216:Zdbf2
|
UTSW |
1 |
63303002 |
missense |
possibly damaging |
0.83 |
|
R1352:Zdbf2
|
UTSW |
1 |
63303053 |
missense |
probably damaging |
0.96 |
|
R1402:Zdbf2
|
UTSW |
1 |
63303627 |
missense |
possibly damaging |
0.46 |
|
R1402:Zdbf2
|
UTSW |
1 |
63303627 |
missense |
possibly damaging |
0.46 |
|
R1435:Zdbf2
|
UTSW |
1 |
63303040 |
missense |
possibly damaging |
0.66 |
|
R1562:Zdbf2
|
UTSW |
1 |
63303588 |
missense |
possibly damaging |
0.83 |
|
R1624:Zdbf2
|
UTSW |
1 |
63303859 |
missense |
possibly damaging |
0.66 |
|
R1635:Zdbf2
|
UTSW |
1 |
63304334 |
missense |
possibly damaging |
0.92 |
|
R1644:Zdbf2
|
UTSW |
1 |
63308972 |
missense |
possibly damaging |
0.66 |
|
R1662:Zdbf2
|
UTSW |
1 |
63304249 |
nonsense |
probably null |
|
|
R1700:Zdbf2
|
UTSW |
1 |
63302741 |
missense |
unknown |
|
|
R1720:Zdbf2
|
UTSW |
1 |
63303277 |
missense |
possibly damaging |
0.46 |
|
R1853:Zdbf2
|
UTSW |
1 |
63305542 |
frame shift |
probably null |
|
|
R1854:Zdbf2
|
UTSW |
1 |
63305542 |
frame shift |
probably null |
|
|
R1973:Zdbf2
|
UTSW |
1 |
63309701 |
missense |
unknown |
|
|
R2336:Zdbf2
|
UTSW |
1 |
63303464 |
missense |
probably benign |
0.00 |
|
R2428:Zdbf2
|
UTSW |
1 |
63305615 |
missense |
probably benign |
0.04 |
|
R3010:Zdbf2
|
UTSW |
1 |
63303065 |
missense |
possibly damaging |
0.92 |
|
R3034:Zdbf2
|
UTSW |
1 |
63304205 |
missense |
probably damaging |
0.96 |
|
R3079:Zdbf2
|
UTSW |
1 |
63307477 |
missense |
probably benign |
0.05 |
|
R3196:Zdbf2
|
UTSW |
1 |
63308420 |
missense |
possibly damaging |
0.46 |
|
R3711:Zdbf2
|
UTSW |
1 |
63308671 |
missense |
possibly damaging |
0.83 |
|
R3845:Zdbf2
|
UTSW |
1 |
63308324 |
missense |
possibly damaging |
0.66 |
|
R4093:Zdbf2
|
UTSW |
1 |
63309781 |
missense |
possibly damaging |
0.83 |
|
R4250:Zdbf2
|
UTSW |
1 |
63302861 |
missense |
possibly damaging |
0.46 |
|
R4592:Zdbf2
|
UTSW |
1 |
63306591 |
missense |
possibly damaging |
0.82 |
|
R4721:Zdbf2
|
UTSW |
1 |
63308792 |
missense |
possibly damaging |
0.46 |
|
R4779:Zdbf2
|
UTSW |
1 |
63303238 |
missense |
possibly damaging |
0.66 |
|
R4928:Zdbf2
|
UTSW |
1 |
63308814 |
missense |
possibly damaging |
0.81 |
|
R4943:Zdbf2
|
UTSW |
1 |
63302914 |
missense |
possibly damaging |
0.92 |
|
R5025:Zdbf2
|
UTSW |
1 |
63303650 |
missense |
possibly damaging |
0.82 |
|
R5095:Zdbf2
|
UTSW |
1 |
63309073 |
missense |
possibly damaging |
0.66 |
|
R5149:Zdbf2
|
UTSW |
1 |
63304903 |
missense |
possibly damaging |
0.83 |
|
R5326:Zdbf2
|
UTSW |
1 |
63304411 |
missense |
possibly damaging |
0.66 |
|
R5341:Zdbf2
|
UTSW |
1 |
63307933 |
missense |
probably benign |
0.27 |
|
R5511:Zdbf2
|
UTSW |
1 |
63305677 |
missense |
probably benign |
0.03 |
|
R5809:Zdbf2
|
UTSW |
1 |
63305876 |
missense |
possibly damaging |
0.90 |
|
R5902:Zdbf2
|
UTSW |
1 |
63306526 |
missense |
possibly damaging |
0.83 |
|
R6162:Zdbf2
|
UTSW |
1 |
63280818 |
start gained |
probably benign |
|
|
R6245:Zdbf2
|
UTSW |
1 |
63304433 |
missense |
possibly damaging |
0.46 |
|
R6332:Zdbf2
|
UTSW |
1 |
63307822 |
missense |
possibly damaging |
0.66 |
|
R6361:Zdbf2
|
UTSW |
1 |
63303321 |
missense |
possibly damaging |
0.66 |
|
R6489:Zdbf2
|
UTSW |
1 |
63307478 |
missense |
possibly damaging |
0.46 |
|
R6517:Zdbf2
|
UTSW |
1 |
63305520 |
missense |
possibly damaging |
0.81 |
|
R6624:Zdbf2
|
UTSW |
1 |
63303914 |
missense |
possibly damaging |
0.46 |
|
R6643:Zdbf2
|
UTSW |
1 |
63304508 |
missense |
possibly damaging |
0.82 |
|
R6786:Zdbf2
|
UTSW |
1 |
63304520 |
missense |
possibly damaging |
0.46 |
|
R6808:Zdbf2
|
UTSW |
1 |
63308528 |
missense |
possibly damaging |
0.66 |
|
R6896:Zdbf2
|
UTSW |
1 |
63308872 |
missense |
probably damaging |
0.98 |
|
R6997:Zdbf2
|
UTSW |
1 |
63290766 |
missense |
probably benign |
0.09 |
|
R7011:Zdbf2
|
UTSW |
1 |
63306766 |
missense |
possibly damaging |
0.66 |
|
R7058:Zdbf2
|
UTSW |
1 |
63307404 |
missense |
possibly damaging |
0.66 |
|
R7066:Zdbf2
|
UTSW |
1 |
63307559 |
missense |
probably benign |
|
|
R7177:Zdbf2
|
UTSW |
1 |
63294961 |
missense |
possibly damaging |
0.94 |
|
R7184:Zdbf2
|
UTSW |
1 |
63306505 |
missense |
possibly damaging |
0.92 |
|
R7273:Zdbf2
|
UTSW |
1 |
63303404 |
missense |
possibly damaging |
0.90 |
|
R7387:Zdbf2
|
UTSW |
1 |
63304039 |
missense |
possibly damaging |
0.46 |
|
R7468:Zdbf2
|
UTSW |
1 |
63307510 |
missense |
probably benign |
|
|
R7695:Zdbf2
|
UTSW |
1 |
63307370 |
missense |
possibly damaging |
0.83 |
|
R7712:Zdbf2
|
UTSW |
1 |
63305371 |
missense |
possibly damaging |
0.83 |
|
R7735:Zdbf2
|
UTSW |
1 |
63304105 |
missense |
possibly damaging |
0.66 |
|
R7736:Zdbf2
|
UTSW |
1 |
63308007 |
nonsense |
probably null |
|
|
R7759:Zdbf2
|
UTSW |
1 |
63308376 |
missense |
possibly damaging |
0.46 |
|
R7796:Zdbf2
|
UTSW |
1 |
63303424 |
missense |
possibly damaging |
0.90 |
|
R7908:Zdbf2
|
UTSW |
1 |
63306827 |
missense |
possibly damaging |
0.46 |
|
R7970:Zdbf2
|
UTSW |
1 |
63304171 |
missense |
possibly damaging |
0.92 |
|
R8076:Zdbf2
|
UTSW |
1 |
63306101 |
missense |
possibly damaging |
0.92 |
|
R8152:Zdbf2
|
UTSW |
1 |
63306413 |
missense |
possibly damaging |
0.92 |
|
R8195:Zdbf2
|
UTSW |
1 |
63304066 |
missense |
possibly damaging |
0.83 |
|
R8272:Zdbf2
|
UTSW |
1 |
63305983 |
missense |
probably benign |
|
|
R8306:Zdbf2
|
UTSW |
1 |
63304075 |
missense |
possibly damaging |
0.66 |
|
R8309:Zdbf2
|
UTSW |
1 |
63306591 |
missense |
possibly damaging |
0.82 |
|
R8323:Zdbf2
|
UTSW |
1 |
63302914 |
missense |
possibly damaging |
0.46 |
|
R8400:Zdbf2
|
UTSW |
1 |
63304976 |
missense |
possibly damaging |
0.92 |
|
R8443:Zdbf2
|
UTSW |
1 |
63306007 |
missense |
possibly damaging |
0.83 |
|
R8460:Zdbf2
|
UTSW |
1 |
63309570 |
small deletion |
probably benign |
|
|
R8528:Zdbf2
|
UTSW |
1 |
63303386 |
missense |
possibly damaging |
0.82 |
|
R8812:Zdbf2
|
UTSW |
1 |
63308113 |
missense |
probably benign |
0.00 |
|
R8962:Zdbf2
|
UTSW |
1 |
63308003 |
missense |
probably benign |
0.00 |
|
R9061:Zdbf2
|
UTSW |
1 |
63307137 |
missense |
|
|
|
R9072:Zdbf2
|
UTSW |
1 |
63305764 |
missense |
possibly damaging |
0.83 |
|
R9232:Zdbf2
|
UTSW |
1 |
63308009 |
missense |
possibly damaging |
0.66 |
|
R9257:Zdbf2
|
UTSW |
1 |
63306241 |
missense |
probably damaging |
1.00 |
|
R9411:Zdbf2
|
UTSW |
1 |
63304129 |
missense |
probably damaging |
0.97 |
|
R9470:Zdbf2
|
UTSW |
1 |
63305625 |
missense |
possibly damaging |
0.82 |
|
R9606:Zdbf2
|
UTSW |
1 |
63303377 |
missense |
possibly damaging |
0.92 |
|
R9621:Zdbf2
|
UTSW |
1 |
63303476 |
missense |
possibly damaging |
0.66 |
|
RF021:Zdbf2
|
UTSW |
1 |
63302652 |
missense |
possibly damaging |
0.82 |
|
X0018:Zdbf2
|
UTSW |
1 |
63305351 |
missense |
possibly damaging |
0.92 |
|
X0027:Zdbf2
|
UTSW |
1 |
63308007 |
nonsense |
probably null |
|
|
X0057:Zdbf2
|
UTSW |
1 |
63305390 |
missense |
possibly damaging |
0.66 |
|
X0063:Zdbf2
|
UTSW |
1 |
63305537 |
missense |
probably benign |
0.04 |
|
Z1176:Zdbf2
|
UTSW |
1 |
63304245 |
missense |
possibly damaging |
0.83 |
|
Z1177:Zdbf2
|
UTSW |
1 |
63304086 |
frame shift |
probably null |
|
|
Z1177:Zdbf2
|
UTSW |
1 |
63309203 |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTTAAAGTTCCAGAGGACCAATCA -3'
(R):5'- TGCTCAACTGCTCTTCAGCACC -3'
Sequencing Primer
(F):5'- TGGGTGCTACTCAAGTTCCAAAG -3'
(R):5'- ggagcacagagcccgtg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation