Incidental Mutation 'IGL00941:Ubqln4'
| ID |
27112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubqln4
|
| Ensembl Gene |
ENSMUSG00000008604 |
| Gene Name |
ubiquilin 4 |
| Synonyms |
UBIN |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
IGL00941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88461065-88477032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88471808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 415
(A415T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008748]
|
| AlphaFold |
Q99NB8 |
| PDB Structure |
NMR structure of CIP75 UBA domain [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008748
AA Change: A415T
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: A415T
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
13 |
83 |
9.08e-17 |
SMART |
|
low complexity region
|
93 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
STI1
|
187 |
224 |
2.76e-6 |
SMART |
|
STI1
|
225 |
256 |
2.39e-1 |
SMART |
|
low complexity region
|
302 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
STI1
|
388 |
435 |
7.4e-7 |
SMART |
|
STI1
|
439 |
471 |
3.21e1 |
SMART |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
UBA
|
554 |
592 |
8.25e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195498
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,536,104 (GRCm39) |
I521S |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,870,376 (GRCm39) |
K265I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,889,187 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,153,082 (GRCm39) |
Y215H |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,082,729 (GRCm39) |
M393V |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,229,365 (GRCm39) |
I242V |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,118,727 (GRCm39) |
L657F |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,327 (GRCm39) |
V675M |
probably damaging |
Het |
| Fgf21 |
A |
G |
7: 45,264,597 (GRCm39) |
V45A |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,836,255 (GRCm39) |
I412T |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,749 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
A |
T |
4: 88,521,551 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,389,856 (GRCm39) |
M471V |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,794 (GRCm39) |
V73I |
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,920,652 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
A |
T |
17: 57,202,086 (GRCm39) |
S428R |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,501,740 (GRCm39) |
H141L |
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,480,599 (GRCm39) |
C392F |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,727 (GRCm39) |
F550L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Stk36 |
T |
A |
1: 74,663,093 (GRCm39) |
M588K |
possibly damaging |
Het |
| Zfp839 |
C |
A |
12: 110,827,382 (GRCm39) |
S424R |
probably damaging |
Het |
| Zkscan6 |
G |
T |
11: 65,705,573 (GRCm39) |
G95W |
probably damaging |
Het |
|
| Other mutations in Ubqln4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Ubqln4
|
APN |
3 |
88,471,775 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02821:Ubqln4
|
APN |
3 |
88,470,458 (GRCm39) |
missense |
probably benign |
|
|
IGL02852:Ubqln4
|
APN |
3 |
88,462,778 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0173:Ubqln4
|
UTSW |
3 |
88,462,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0372:Ubqln4
|
UTSW |
3 |
88,463,276 (GRCm39) |
missense |
probably benign |
|
|
R1473:Ubqln4
|
UTSW |
3 |
88,473,152 (GRCm39) |
missense |
probably benign |
|
|
R3688:Ubqln4
|
UTSW |
3 |
88,470,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5423:Ubqln4
|
UTSW |
3 |
88,470,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5592:Ubqln4
|
UTSW |
3 |
88,464,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Ubqln4
|
UTSW |
3 |
88,472,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Ubqln4
|
UTSW |
3 |
88,462,679 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7326:Ubqln4
|
UTSW |
3 |
88,463,217 (GRCm39) |
missense |
probably benign |
|
|
R7572:Ubqln4
|
UTSW |
3 |
88,462,731 (GRCm39) |
unclassified |
probably benign |
|
|
R8134:Ubqln4
|
UTSW |
3 |
88,462,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8754:Ubqln4
|
UTSW |
3 |
88,473,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Ubqln4
|
UTSW |
3 |
88,473,023 (GRCm39) |
missense |
probably benign |
|
|
R9447:Ubqln4
|
UTSW |
3 |
88,464,124 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9762:Ubqln4
|
UTSW |
3 |
88,473,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Ubqln4
|
UTSW |
3 |
88,473,027 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation