Incidental Mutation 'IGL02044:Unk'
ID |
184872 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Unk
|
Ensembl Gene |
ENSMUSG00000020770 |
Gene Name |
unkempt family zinc finger |
Synonyms |
Zc3h5, B230379M23Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
IGL02044
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115940154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 169
(M169K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021116]
[ENSMUST00000106452]
|
AlphaFold |
Q8BL48 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021116
AA Change: M169K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021116 Gene: ENSMUSG00000020770 AA Change: M169K
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 |
probably damaging
Transcript: ENSMUST00000106452
AA Change: M169K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102060 Gene: ENSMUSG00000020770 AA Change: M169K
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: ENSMUST00000150759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176212
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly 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 |
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 |
|
R6387:Unk
|
UTSW |
11 |
115,945,766 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
|
|
Posted On |
2014-05-07 |