Incidental Mutation 'R4935:Uimc1'
| ID |
380319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uimc1
|
| Ensembl Gene |
ENSMUSG00000025878 |
| Gene Name |
ubiquitin interaction motif containing 1 |
| Synonyms |
D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik |
| MMRRC Submission |
042535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R4935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55175693-55248113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55240998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 30
(I30T)
|
| 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 |
probably benign
Transcript: ENSMUST00000026997
AA Change: I30T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: I30T
| 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 damaging
Transcript: ENSMUST00000099496
AA Change: I30T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: I30T
| 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 |
probably benign
Transcript: ENSMUST00000127195
AA Change: I30T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: I30T
| 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: ENSMUST00000133187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148702
AA Change: I30T
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
AA Change: I30T
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
| Abcb1a |
T |
A |
5: 8,787,773 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
C |
3: 97,079,060 (GRCm39) |
|
probably null |
Het |
| Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
| Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
| Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,131 (GRCm39) |
Y475C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
| Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
| Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
| Fdxacb1 |
T |
A |
9: 50,683,243 (GRCm39) |
M402K |
probably benign |
Het |
| Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
| Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
| H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
| Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
| Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
| Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,549,396 (GRCm39) |
Y322F |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
| Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
| Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
| Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
| Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
| Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
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 |
|
|
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 |
|
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 |
|
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'- CACGCGCTTTTAAATAATCCAC -3'
(R):5'- ATGGCTGTCATTTGCTCTTATATGACC -3'
Sequencing Primer
(F):5'- GCGCTTTTAAATAATCCACAATTCCC -3'
(R):5'- GCATTTTAGGTAAAAGGATGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation