Incidental Mutation 'R5099:Unk'
| ID |
388185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unk
|
| Ensembl Gene |
ENSMUSG00000020770 |
| Gene Name |
unkempt family zinc finger |
| Synonyms |
Zc3h5, B230379M23Rik |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.836)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115949936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 701
(Q701R)
|
| 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: Q714R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: Q714R
| 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: Q701R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: Q701R
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0858 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTCTCTTCTCCACAGGCAG -3'
(R):5'- GCTGACCTTGTCCACTTGTG -3'
Sequencing Primer
(F):5'- CGGAGTGCTCTCTCAGAGTG -3'
(R):5'- GACCTTGTCCACTTGTGTGTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation