Incidental Mutation 'R6733:Unk'
| ID |
530155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unk
|
| Ensembl Gene |
ENSMUSG00000020770 |
| Gene Name |
unkempt family zinc finger |
| Synonyms |
Zc3h5, B230379M23Rik |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.836)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115941581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 276
(D276G)
|
| 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: D276G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: D276G
| 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: D276G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: D276G
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- GGAGACCCTTCCTCTATAGCTGATC -3'
(R):5'- AAGCTGTCCTCACATCTGCC -3'
Sequencing Primer
(F):5'- TACCTATTTCTGTACCTGGACTTGAG -3'
(R):5'- ACATCTGCCTCGCTATGCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation