Incidental Mutation 'R4033:Unk'
| ID |
313594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unk
|
| Ensembl Gene |
ENSMUSG00000020770 |
| Gene Name |
unkempt family zinc finger |
| Synonyms |
Zc3h5, B230379M23Rik |
| MMRRC Submission |
040961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.836)
|
| Stock # |
R4033 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115921148-115952040 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115944353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 368
(H368L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021116]
[ENSMUST00000106452]
|
| AlphaFold |
Q8BL48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021116
AA Change: H381L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: H381L
| 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: ENSMUST00000106452
AA Change: H368L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: H368L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
G |
8: 44,079,710 (GRCm39) |
M171I |
probably benign |
Het |
| Als2 |
G |
T |
1: 59,235,400 (GRCm39) |
S761R |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,412 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
G |
A |
12: 112,943,352 (GRCm39) |
T166M |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,508,624 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cerk |
T |
G |
15: 86,039,228 (GRCm39) |
H221P |
possibly damaging |
Het |
| Cfap69 |
A |
T |
5: 5,654,389 (GRCm39) |
I458N |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,765 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,312 (GRCm39) |
N891S |
unknown |
Het |
| Dmxl1 |
A |
G |
18: 49,984,498 (GRCm39) |
T165A |
possibly damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,207 (GRCm39) |
N31I |
probably benign |
Het |
| Fgf17 |
G |
T |
14: 70,878,966 (GRCm39) |
|
probably benign |
Het |
| Fhit |
A |
T |
14: 10,751,671 (GRCm38) |
|
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,393,297 (GRCm39) |
I578L |
probably benign |
Het |
| Gm17641 |
C |
T |
3: 68,777,146 (GRCm39) |
R36W |
probably damaging |
Het |
| Gprin2 |
A |
T |
14: 33,916,635 (GRCm39) |
D378E |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,735 (GRCm39) |
M1L |
probably benign |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifih1 |
G |
A |
2: 62,465,534 (GRCm39) |
S212L |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,540,827 (GRCm39) |
I242T |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lsm14b |
A |
G |
2: 179,673,309 (GRCm39) |
K195E |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,357,172 (GRCm39) |
V326I |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,774,830 (GRCm39) |
N76K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,837,401 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,807,861 (GRCm39) |
D367G |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,499,771 (GRCm39) |
C721R |
probably damaging |
Het |
| Or51e1 |
C |
T |
7: 102,358,697 (GRCm39) |
T77I |
probably damaging |
Het |
| Prr27 |
G |
T |
5: 87,991,164 (GRCm39) |
E259* |
probably null |
Het |
| Psmg3 |
G |
A |
5: 139,812,086 (GRCm39) |
P5S |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,053,224 (GRCm39) |
T1134A |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,668 (GRCm39) |
N120S |
probably damaging |
Het |
| Reg3b |
A |
T |
6: 78,350,192 (GRCm39) |
K157N |
possibly damaging |
Het |
| Rlf |
T |
G |
4: 121,004,540 (GRCm39) |
Q1480P |
probably damaging |
Het |
| Slc16a12 |
A |
T |
19: 34,652,567 (GRCm39) |
L193Q |
probably damaging |
Het |
| Smo |
G |
A |
6: 29,759,917 (GRCm39) |
R672H |
probably damaging |
Het |
| Smyd4 |
A |
G |
11: 75,240,580 (GRCm39) |
D25G |
probably benign |
Het |
| Sorbs2 |
C |
G |
8: 46,228,632 (GRCm39) |
D264E |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,585,767 (GRCm39) |
Q593K |
probably benign |
Het |
| Tdrd9 |
A |
T |
12: 111,958,973 (GRCm39) |
I136L |
possibly damaging |
Het |
| Tshz3 |
G |
A |
7: 36,470,009 (GRCm39) |
S666N |
possibly damaging |
Het |
| Ubn1 |
C |
T |
16: 4,882,475 (GRCm39) |
T69M |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,436,122 (GRCm39) |
L2051* |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTCAAATCCCTGAGGC -3'
(R):5'- ACAGAAGAGGCTCAGCTTCCTG -3'
Sequencing Primer
(F):5'- TCAAATCCCTGAGGCTCGGG -3'
(R):5'- AGCTTCCTGGCCTTACGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation