Incidental Mutation 'IGL01782:Unk'
ID |
153970 |
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 # |
IGL01782
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 115949205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 645
(N645K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021116]
[ENSMUST00000075036]
[ENSMUST00000106450]
[ENSMUST00000106451]
[ENSMUST00000106452]
[ENSMUST00000174822]
[ENSMUST00000173345]
|
AlphaFold |
Q8BL48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021116
AA Change: N658K
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021116 Gene: ENSMUSG00000020770 AA Change: N658K
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 benign
Transcript: ENSMUST00000075036
|
SMART Domains |
Protein: ENSMUSP00000074549 Gene: ENSMUSG00000057948
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
C2
|
111 |
261 |
5.31e-11 |
SMART |
PDB:3SWH|B
|
585 |
735 |
8e-6 |
PDB |
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
Pfam:Membr_traf_MHD
|
785 |
892 |
1.9e-25 |
PFAM |
C2
|
923 |
1031 |
7.93e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106450
|
SMART Domains |
Protein: ENSMUSP00000102058 Gene: ENSMUSG00000057948
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
C2
|
111 |
261 |
5.31e-11 |
SMART |
PDB:3SWH|B
|
587 |
737 |
8e-6 |
PDB |
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
Pfam:Membr_traf_MHD
|
787 |
894 |
1.9e-25 |
PFAM |
C2
|
925 |
1033 |
7.93e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106451
|
SMART Domains |
Protein: ENSMUSP00000102059 Gene: ENSMUSG00000057948
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
C2
|
111 |
261 |
5.31e-11 |
SMART |
PDB:3SWH|B
|
587 |
737 |
8e-6 |
PDB |
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
Pfam:Membr_traf_MHD
|
788 |
838 |
7.1e-10 |
PFAM |
Pfam:Membr_traf_MHD
|
830 |
893 |
1.4e-15 |
PFAM |
C2
|
925 |
1033 |
7.93e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106452
AA Change: N645K
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102060 Gene: ENSMUSG00000020770 AA Change: N645K
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174822
|
SMART Domains |
Protein: ENSMUSP00000134260 Gene: ENSMUSG00000057948
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
C2
|
111 |
261 |
5.31e-11 |
SMART |
PDB:3SWH|B
|
585 |
735 |
8e-6 |
PDB |
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
Pfam:Membr_traf_MHD
|
785 |
892 |
1.9e-25 |
PFAM |
C2
|
923 |
1031 |
7.93e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173345
|
SMART Domains |
Protein: ENSMUSP00000133679 Gene: ENSMUSG00000057948
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
C2
|
111 |
261 |
5.31e-11 |
SMART |
PDB:3SWH|B
|
587 |
737 |
5e-6 |
PDB |
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
Other mutations in Unk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2014-02-04 |