Incidental Mutation 'IGL02512:Uimc1'
| ID |
296582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uimc1
|
| Ensembl Gene |
ENSMUSG00000025878 |
| Gene Name |
ubiquitin interaction motif containing 1 |
| Synonyms |
D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL02512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55175693-55248113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55188431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 543
(T543A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026997]
[ENSMUST00000099496]
[ENSMUST00000127195]
[ENSMUST00000148702]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026997
AA Change: T543A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: T543A
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
80 |
99 |
7.87e-2 |
SMART |
|
UIM
|
105 |
124 |
6.73e1 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
727 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000099496
AA Change: T262A
|
| SMART Domains |
Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: T262A
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
80 |
99 |
7.87e-2 |
SMART |
|
UIM
|
105 |
124 |
1.53e1 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127195
AA Change: T543A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: T543A
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
80 |
99 |
7.87e-2 |
SMART |
|
UIM
|
105 |
124 |
6.73e1 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
727 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148702
|
| SMART Domains |
Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
80 |
99 |
7.87e-2 |
SMART |
|
UIM
|
105 |
124 |
6.73e1 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
393 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death due to B-cell lymphomas and abnormal DNA repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
C |
A |
15: 90,111,752 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,924,827 (GRCm39) |
M104K |
probably benign |
Het |
| Ankrd37 |
A |
G |
8: 46,452,325 (GRCm39) |
L48P |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,222 (GRCm39) |
L43M |
probably damaging |
Het |
| Ano10 |
A |
C |
9: 122,101,540 (GRCm39) |
V77G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,194,517 (GRCm39) |
V114I |
probably benign |
Het |
| Asah1 |
A |
C |
8: 41,813,344 (GRCm39) |
|
probably benign |
Het |
| Clpx |
A |
C |
9: 65,217,533 (GRCm39) |
I34L |
probably benign |
Het |
| Cnga2 |
G |
A |
X: 71,052,531 (GRCm39) |
V469I |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,856,950 (GRCm39) |
|
probably benign |
Het |
| Eaf1 |
A |
G |
14: 31,219,743 (GRCm39) |
T61A |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,017,115 (GRCm39) |
D624V |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,547,904 (GRCm39) |
D927G |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,180,380 (GRCm39) |
Y1801N |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,921,150 (GRCm39) |
Y292H |
probably damaging |
Het |
| Gpr174 |
A |
T |
X: 106,336,577 (GRCm39) |
K130* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,742,713 (GRCm39) |
V1379I |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,008 (GRCm39) |
D507E |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,173,962 (GRCm39) |
K24* |
probably null |
Het |
| Ift80 |
A |
G |
3: 68,835,058 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
T |
A |
11: 3,449,661 (GRCm39) |
Y707F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,187,689 (GRCm39) |
F717L |
possibly damaging |
Het |
| Klhdc8a |
T |
C |
1: 132,230,895 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
G |
A |
8: 45,729,277 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,199,801 (GRCm39) |
|
probably null |
Het |
| Nampt |
T |
A |
12: 32,880,268 (GRCm39) |
Y54N |
possibly damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,504 (GRCm39) |
E43* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,919,343 (GRCm39) |
R6887H |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,402 (GRCm39) |
I190M |
possibly damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,182,171 (GRCm39) |
N137D |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,119 (GRCm39) |
I257T |
possibly damaging |
Het |
| Pdss1 |
A |
G |
2: 22,802,658 (GRCm39) |
I166V |
probably damaging |
Het |
| Phaf1 |
G |
A |
8: 105,961,110 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,245,425 (GRCm39) |
Y728H |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,555,052 (GRCm39) |
D56G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,386 (GRCm39) |
V683E |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,864,478 (GRCm39) |
D358G |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,851 (GRCm39) |
S241T |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,957,735 (GRCm39) |
P346S |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,215 (GRCm39) |
S324T |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,123 (GRCm39) |
Y168H |
probably damaging |
Het |
| St3gal6 |
C |
T |
16: 58,293,822 (GRCm39) |
E236K |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,069 (GRCm39) |
M1426K |
probably benign |
Het |
| Tinag |
A |
T |
9: 76,939,069 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,993,415 (GRCm39) |
S53P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,764,448 (GRCm39) |
W2147R |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,465 (GRCm39) |
C641Y |
probably damaging |
Het |
|
| Other mutations in Uimc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Uimc1
|
APN |
13 |
55,182,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01655:Uimc1
|
APN |
13 |
55,176,517 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01867:Uimc1
|
APN |
13 |
55,223,214 (GRCm39) |
missense |
probably benign |
|
|
IGL02704:Uimc1
|
APN |
13 |
55,178,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4382001:Uimc1
|
UTSW |
13 |
55,178,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Uimc1
|
UTSW |
13 |
55,223,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0118:Uimc1
|
UTSW |
13 |
55,233,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0349:Uimc1
|
UTSW |
13 |
55,223,804 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0441:Uimc1
|
UTSW |
13 |
55,241,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Uimc1
|
UTSW |
13 |
55,208,079 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0834:Uimc1
|
UTSW |
13 |
55,224,222 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1175:Uimc1
|
UTSW |
13 |
55,176,415 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2243:Uimc1
|
UTSW |
13 |
55,198,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2566:Uimc1
|
UTSW |
13 |
55,223,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Uimc1
|
UTSW |
13 |
55,223,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4622:Uimc1
|
UTSW |
13 |
55,225,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Uimc1
|
UTSW |
13 |
55,240,998 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5140:Uimc1
|
UTSW |
13 |
55,223,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Uimc1
|
UTSW |
13 |
55,223,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Uimc1
|
UTSW |
13 |
55,188,389 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6955:Uimc1
|
UTSW |
13 |
55,188,359 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7040:Uimc1
|
UTSW |
13 |
55,223,267 (GRCm39) |
splice site |
probably null |
|
|
R7106:Uimc1
|
UTSW |
13 |
55,198,628 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7505:Uimc1
|
UTSW |
13 |
55,223,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7864:Uimc1
|
UTSW |
13 |
55,241,080 (GRCm39) |
nonsense |
probably null |
|
|
R7872:Uimc1
|
UTSW |
13 |
55,217,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8742:Uimc1
|
UTSW |
13 |
55,240,971 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8969:Uimc1
|
UTSW |
13 |
55,233,447 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9115:Uimc1
|
UTSW |
13 |
55,198,584 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9228:Uimc1
|
UTSW |
13 |
55,223,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9424:Uimc1
|
UTSW |
13 |
55,223,646 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9567:Uimc1
|
UTSW |
13 |
55,188,427 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
RF009:Uimc1
|
UTSW |
13 |
55,198,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-04-16 |
Incidental Mutation