Incidental Mutation 'R0118:Uimc1'
| ID |
20946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uimc1
|
| Ensembl Gene |
ENSMUSG00000025878 |
| Gene Name |
ubiquitin interaction motif containing 1 |
| Synonyms |
D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik |
| MMRRC Submission |
038404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R0118 (G1)
|
| Quality Score |
55 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
55175693-55248113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55233457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 66
(N66K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097095
(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: N66K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: N66K
| 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 |
noncoding transcript
Transcript: ENSMUST00000075962
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099496
AA Change: N66K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: N66K
| 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 |
noncoding transcript
Transcript: ENSMUST00000124561
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127195
AA Change: N66K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: N66K
| 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 |
noncoding transcript
Transcript: ENSMUST00000128641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133187
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148702
AA Change: N66K
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
AA Change: N66K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 89.3%
- 20x: 67.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
C |
9: 30,823,040 (GRCm39) |
R343G |
probably damaging |
Het |
| Asxl2 |
T |
G |
12: 3,546,923 (GRCm39) |
V569G |
probably damaging |
Het |
| Azin2 |
A |
C |
4: 128,843,430 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,262,712 (GRCm39) |
R324C |
probably damaging |
Het |
| Ccr3 |
C |
A |
9: 123,829,647 (GRCm39) |
Y327* |
probably null |
Het |
| Cers2 |
T |
C |
3: 95,227,537 (GRCm39) |
F55S |
probably benign |
Het |
| Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,037,326 (GRCm39) |
|
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,079,186 (GRCm39) |
R172G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,557 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
A |
15: 73,436,925 (GRCm39) |
Y1051N |
probably damaging |
Het |
| Dmap1 |
T |
G |
4: 117,533,680 (GRCm39) |
Y196S |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,692,751 (GRCm39) |
W102* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,442,664 (GRCm39) |
C2624* |
probably null |
Het |
| Gdpd3 |
A |
G |
7: 126,370,165 (GRCm39) |
Y238C |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,451 (GRCm39) |
V27A |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,720,042 (GRCm39) |
F1465L |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,552 (GRCm39) |
M227K |
probably benign |
Het |
| Map6 |
A |
G |
7: 98,966,824 (GRCm39) |
D348G |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,696 (GRCm39) |
S1472P |
probably benign |
Het |
| Megf6 |
C |
A |
4: 154,339,098 (GRCm39) |
P545Q |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,601,086 (GRCm39) |
R357W |
probably damaging |
Het |
| Mesd |
T |
A |
7: 83,544,835 (GRCm39) |
I104N |
probably damaging |
Het |
| Mrm3 |
T |
A |
11: 76,140,781 (GRCm39) |
V263E |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,405,210 (GRCm39) |
Y488* |
probably null |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nfs1 |
T |
C |
2: 155,976,444 (GRCm39) |
H150R |
probably damaging |
Het |
| Odad3 |
A |
T |
9: 21,906,353 (GRCm39) |
N224K |
probably benign |
Het |
| Or1n1b |
A |
G |
2: 36,780,035 (GRCm39) |
M275T |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,154 (GRCm39) |
S50P |
possibly damaging |
Het |
| Or8g19 |
T |
A |
9: 39,055,399 (GRCm39) |
M1K |
probably null |
Het |
| Or9q1 |
A |
G |
19: 13,804,929 (GRCm39) |
F277S |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,848 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Pik3r5 |
T |
A |
11: 68,381,306 (GRCm39) |
L164Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,824,240 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,122,564 (GRCm39) |
K464N |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,416,631 (GRCm39) |
T1037A |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,750 (GRCm39) |
I108N |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,371 (GRCm39) |
K98E |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,796,619 (GRCm39) |
V237A |
probably damaging |
Het |
| Tbc1d16 |
T |
C |
11: 119,048,642 (GRCm39) |
H337R |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,893,701 (GRCm39) |
I1291F |
probably benign |
Het |
| Tnfaip6 |
G |
T |
2: 51,933,827 (GRCm39) |
E61* |
probably null |
Het |
| Trib2 |
A |
T |
12: 15,843,929 (GRCm39) |
W102R |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,838 (GRCm39) |
T265S |
probably benign |
Het |
| Vps35 |
G |
A |
8: 86,021,582 (GRCm39) |
T3I |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,975,692 (GRCm39) |
L63* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,869,866 (GRCm39) |
R304G |
probably benign |
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 |
|
|
IGL02512:Uimc1
|
APN |
13 |
55,188,431 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGAAAGCTGCACTCTGTCTTC -3'
(R):5'- CTTGGCAAAGCGCATGTTCCTC -3'
Sequencing Primer
(F):5'- tcccaacattacccagcag -3'
(R):5'- AGAGATTCGTATCTTTGCGACC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation