Incidental Mutation 'IGL01956:Unk'
| ID |
181096 |
| 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 # |
IGL01956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115947160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 598
(S598P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021116]
[ENSMUST00000106452]
|
| AlphaFold |
Q8BL48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021116
AA Change: S598P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: S598P
| 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: S585P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: S585P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,825,770 (GRCm39) |
G1022D |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,594,549 (GRCm39) |
H4155R |
possibly damaging |
Het |
| Akna |
A |
T |
4: 63,297,527 (GRCm39) |
D842E |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,773,735 (GRCm39) |
E88G |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,425 (GRCm39) |
P148L |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,294,518 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,150,158 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
G |
15: 44,263,612 (GRCm39) |
Y277H |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,962,509 (GRCm39) |
S154P |
probably benign |
Het |
| Or6c206 |
T |
A |
10: 129,096,911 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pah |
G |
A |
10: 87,374,061 (GRCm39) |
E76K |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,098,501 (GRCm39) |
I412N |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,322,407 (GRCm39) |
N620S |
probably damaging |
Het |
| Slc18a2 |
T |
C |
19: 59,275,608 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
C |
5: 135,066,323 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,144,748 (GRCm39) |
D1566N |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,755 (GRCm39) |
E433D |
probably benign |
Het |
| Tas2r102 |
G |
A |
6: 132,739,416 (GRCm39) |
W108* |
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,981,036 (GRCm39) |
V135A |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp729a |
A |
T |
13: 67,769,805 (GRCm39) |
H141Q |
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 |
|
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 |
2014-05-07 |
Incidental Mutation