Incidental Mutation 'R6387:Unk'
ID |
514669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unk
|
Ensembl Gene |
ENSMUSG00000020770 |
Gene Name |
unkempt family zinc finger |
Synonyms |
Zc3h5, B230379M23Rik |
MMRRC Submission |
044536-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
R6387 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115945766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 479
(N479S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021116]
[ENSMUST00000106452]
|
AlphaFold |
Q8BL48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021116
AA Change: N492S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021116 Gene: ENSMUSG00000020770 AA Change: N492S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
ZnF_C3H1
|
85 |
112 |
1.03e-2 |
SMART |
ZnF_C3H1
|
124 |
153 |
4.3e1 |
SMART |
ZnF_C3H1
|
215 |
240 |
1.1e0 |
SMART |
ZnF_C3H1
|
251 |
284 |
2.17e-1 |
SMART |
ZnF_C3H1
|
293 |
320 |
1.38e-3 |
SMART |
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
low complexity region
|
467 |
489 |
N/A |
INTRINSIC |
low complexity region
|
563 |
585 |
N/A |
INTRINSIC |
coiled coil region
|
643 |
723 |
N/A |
INTRINSIC |
RING
|
769 |
800 |
2.74e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106452
AA Change: N479S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102060 Gene: ENSMUSG00000020770 AA Change: N479S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
ZnF_C3H1
|
85 |
112 |
1.03e-2 |
SMART |
ZnF_C3H1
|
124 |
153 |
4.3e1 |
SMART |
ZnF_C3H1
|
215 |
240 |
1.1e0 |
SMART |
ZnF_C3H1
|
251 |
284 |
2.17e-1 |
SMART |
ZnF_C3H1
|
293 |
320 |
1.38e-3 |
SMART |
low complexity region
|
454 |
476 |
N/A |
INTRINSIC |
low complexity region
|
550 |
572 |
N/A |
INTRINSIC |
coiled coil region
|
630 |
710 |
N/A |
INTRINSIC |
RING
|
756 |
787 |
2.74e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176212
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,595,323 (GRCm39) |
E84G |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
Ano4 |
A |
T |
10: 88,807,267 (GRCm39) |
Y736* |
probably null |
Het |
Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
Hhatl |
T |
A |
9: 121,619,467 (GRCm39) |
H39L |
probably benign |
Het |
Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,744,920 (GRCm39) |
I416T |
probably benign |
Het |
Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
Sparcl1 |
T |
A |
5: 104,232,926 (GRCm39) |
D625V |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
probably damaging |
Het |
|
Other mutations in Unk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01782:Unk
|
APN |
11 |
115,949,205 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01956:Unk
|
APN |
11 |
115,947,160 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02044:Unk
|
APN |
11 |
115,940,154 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02738:Unk
|
APN |
11 |
115,947,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02861:Unk
|
APN |
11 |
115,947,125 (GRCm39) |
missense |
possibly damaging |
0.58 |
legal_midget
|
UTSW |
11 |
115,941,550 (GRCm39) |
missense |
probably damaging |
1.00 |
produce
|
UTSW |
11 |
115,942,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Unk
|
UTSW |
11 |
115,940,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Unk
|
UTSW |
11 |
115,940,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Unk
|
UTSW |
11 |
115,943,935 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1471:Unk
|
UTSW |
11 |
115,940,235 (GRCm39) |
missense |
probably benign |
0.45 |
R1824:Unk
|
UTSW |
11 |
115,921,268 (GRCm39) |
unclassified |
probably benign |
|
R1900:Unk
|
UTSW |
11 |
115,949,907 (GRCm39) |
missense |
probably benign |
0.01 |
R3052:Unk
|
UTSW |
11 |
115,940,949 (GRCm39) |
missense |
probably benign |
0.01 |
R4033:Unk
|
UTSW |
11 |
115,944,353 (GRCm39) |
missense |
probably benign |
0.00 |
R4449:Unk
|
UTSW |
11 |
115,944,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R4593:Unk
|
UTSW |
11 |
115,939,882 (GRCm39) |
missense |
probably benign |
0.02 |
R4847:Unk
|
UTSW |
11 |
115,945,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Unk
|
UTSW |
11 |
115,945,771 (GRCm39) |
missense |
probably benign |
|
R4940:Unk
|
UTSW |
11 |
115,944,491 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5099:Unk
|
UTSW |
11 |
115,949,936 (GRCm39) |
missense |
probably benign |
0.00 |
R5838:Unk
|
UTSW |
11 |
115,940,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6351:Unk
|
UTSW |
11 |
115,945,772 (GRCm39) |
missense |
probably benign |
|
R6551:Unk
|
UTSW |
11 |
115,941,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R6554:Unk
|
UTSW |
11 |
115,942,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R6599:Unk
|
UTSW |
11 |
115,938,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6733:Unk
|
UTSW |
11 |
115,941,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Unk
|
UTSW |
11 |
115,940,262 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7765:Unk
|
UTSW |
11 |
115,943,908 (GRCm39) |
missense |
probably benign |
0.25 |
R8693:Unk
|
UTSW |
11 |
115,938,640 (GRCm39) |
missense |
probably damaging |
0.98 |
R9242:Unk
|
UTSW |
11 |
115,940,184 (GRCm39) |
missense |
probably benign |
0.01 |
R9569:Unk
|
UTSW |
11 |
115,950,035 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Unk
|
UTSW |
11 |
115,938,590 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
|
Posted On |
2018-05-04 |