Incidental Mutation 'R6581:Uchl4'
| ID |
523439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uchl4
|
| Ensembl Gene |
ENSMUSG00000035337 |
| Gene Name |
ubiquitin carboxyl-terminal esterase L4 |
| Synonyms |
|
| MMRRC Submission |
044705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6581 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64142483-64143644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64143075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 185
(E185D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005066]
[ENSMUST00000039011]
|
| AlphaFold |
P58321 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005066
|
| SMART Domains |
Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
S_TKc
|
68 |
361 |
4.44e-80 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039011
AA Change: E185D
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: E185D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C12
|
6 |
217 |
2.2e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214497
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,256,741 (GRCm39) |
V51M |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,799,615 (GRCm39) |
I471F |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,292,226 (GRCm39) |
E37V |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,359,160 (GRCm39) |
I337F |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,258,449 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,313,999 (GRCm39) |
Y426* |
probably null |
Het |
| Gm21103 |
A |
T |
14: 17,484,809 (GRCm39) |
N78K |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,172 (GRCm39) |
V2755A |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,487,632 (GRCm39) |
E238D |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,126,950 (GRCm39) |
C736S |
probably benign |
Het |
| Luzp1 |
A |
G |
4: 136,267,942 (GRCm39) |
E55G |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,900,574 (GRCm39) |
L589P |
probably damaging |
Het |
| Ms4a4d |
G |
A |
19: 11,532,204 (GRCm39) |
V117M |
probably damaging |
Het |
| Odad2 |
C |
T |
18: 7,129,560 (GRCm39) |
V873I |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,013 (GRCm39) |
L14P |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,032 (GRCm39) |
F126S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,428 (GRCm39) |
I59V |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,829,035 (GRCm39) |
F525S |
probably damaging |
Het |
| Smyd5 |
G |
A |
6: 85,409,005 (GRCm39) |
D7N |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,826,859 (GRCm39) |
R152L |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,192 (GRCm39) |
S559P |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
C |
A |
8: 85,782,033 (GRCm39) |
P874Q |
probably damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,489,465 (GRCm39) |
T248I |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,366 (GRCm39) |
F14L |
probably benign |
Het |
| Yaf2 |
T |
C |
15: 93,184,295 (GRCm39) |
T101A |
probably benign |
Het |
|
| Other mutations in Uchl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Uchl4
|
APN |
9 |
64,142,998 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01710:Uchl4
|
APN |
9 |
64,142,788 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02030:Uchl4
|
APN |
9 |
64,142,911 (GRCm39) |
missense |
probably benign |
|
|
IGL02739:Uchl4
|
APN |
9 |
64,142,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Uchl4
|
UTSW |
9 |
64,142,653 (GRCm39) |
splice site |
probably null |
|
|
R0026:Uchl4
|
UTSW |
9 |
64,142,653 (GRCm39) |
splice site |
probably null |
|
|
R1572:Uchl4
|
UTSW |
9 |
64,143,013 (GRCm39) |
missense |
probably benign |
|
|
R1801:Uchl4
|
UTSW |
9 |
64,142,757 (GRCm39) |
missense |
probably benign |
|
|
R2113:Uchl4
|
UTSW |
9 |
64,142,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Uchl4
|
UTSW |
9 |
64,142,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4500:Uchl4
|
UTSW |
9 |
64,143,163 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4625:Uchl4
|
UTSW |
9 |
64,143,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Uchl4
|
UTSW |
9 |
64,143,022 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Uchl4
|
UTSW |
9 |
64,142,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7134:Uchl4
|
UTSW |
9 |
64,142,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Uchl4
|
UTSW |
9 |
64,143,013 (GRCm39) |
missense |
probably benign |
|
|
R8268:Uchl4
|
UTSW |
9 |
64,142,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Uchl4
|
UTSW |
9 |
64,142,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Uchl4
|
UTSW |
9 |
64,142,986 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTCTGTATCAATGAGCCC -3'
(R):5'- TTCAGGAAAGACCGGGCTTC -3'
Sequencing Primer
(F):5'- GTCTGTATCAATGAGCCCTGAAG -3'
(R):5'- TCTAGAACTTGGAGAGCCACCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation