Incidental Mutation 'R7040:Uimc1'
| ID |
547012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uimc1
|
| Ensembl Gene |
ENSMUSG00000025878 |
| Gene Name |
ubiquitin interaction motif containing 1 |
| Synonyms |
D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik |
| MMRRC Submission |
045013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55175693-55248113 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1949 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 55223267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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: E335V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: E335V
| 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 null
Transcript: ENSMUST00000099496
|
| SMART Domains |
Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
| 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: E335V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: E335V
| 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: ENSMUST00000148702
AA Change: E335V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
AA Change: E335V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 127,835,897 (GRCm39) |
L232P |
possibly damaging |
Het |
| Acaa1a |
T |
C |
9: 119,178,104 (GRCm39) |
V312A |
probably damaging |
Het |
| Bmp2 |
A |
G |
2: 133,403,604 (GRCm39) |
D385G |
probably damaging |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,241 (GRCm39) |
V257A |
probably damaging |
Het |
| Cd3d |
G |
A |
9: 44,896,991 (GRCm39) |
V122I |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,053,519 (GRCm39) |
E199G |
probably damaging |
Het |
| Crb2 |
T |
A |
2: 37,677,696 (GRCm39) |
D326E |
probably benign |
Het |
| Cyp2c29 |
A |
C |
19: 39,318,781 (GRCm39) |
K420N |
possibly damaging |
Het |
| Cyp2g1 |
A |
C |
7: 26,520,184 (GRCm39) |
D472A |
probably damaging |
Het |
| Dab2 |
A |
C |
15: 6,451,732 (GRCm39) |
H116P |
probably damaging |
Het |
| Dnah7b |
G |
C |
1: 46,275,969 (GRCm39) |
E2619Q |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,584,909 (GRCm39) |
M208L |
probably benign |
Het |
| Eif4enif1 |
T |
G |
11: 3,184,040 (GRCm39) |
V521G |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,403,196 (GRCm39) |
M55T |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,985,362 (GRCm39) |
S101G |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,840,679 (GRCm39) |
D33E |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,936,158 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,104,909 (GRCm39) |
*123R |
probably null |
Het |
| Map4k3 |
A |
C |
17: 80,988,344 (GRCm39) |
V36G |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,276,344 (GRCm39) |
I707N |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,305,194 (GRCm39) |
E166G |
unknown |
Het |
| Mucl1 |
T |
A |
15: 103,783,844 (GRCm39) |
T108S |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,497,805 (GRCm39) |
D53V |
possibly damaging |
Het |
| Naa15 |
T |
A |
3: 51,380,205 (GRCm39) |
L811Q |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,525,267 (GRCm39) |
T1487A |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,878,498 (GRCm39) |
L87H |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,444,374 (GRCm39) |
V245A |
probably damaging |
Het |
| Nt5c2 |
A |
T |
19: 46,881,974 (GRCm39) |
F291Y |
possibly damaging |
Het |
| Ooep |
T |
C |
9: 78,285,683 (GRCm39) |
N43S |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,183 (GRCm39) |
M200V |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,932 (GRCm39) |
D178G |
possibly damaging |
Het |
| Or52i2 |
A |
T |
7: 102,319,937 (GRCm39) |
Q270L |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,717 (GRCm39) |
C85S |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,395,772 (GRCm39) |
I82N |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,713,622 (GRCm39) |
M524K |
possibly damaging |
Het |
| Patj |
T |
C |
4: 98,329,317 (GRCm39) |
S524P |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,907,318 (GRCm39) |
Y401N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,770 (GRCm39) |
T99S |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,774,182 (GRCm39) |
A155T |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,576,993 (GRCm39) |
V585A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,221,693 (GRCm39) |
T302S |
unknown |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,686 (GRCm39) |
E760G |
probably benign |
Het |
| Usp16 |
C |
T |
16: 87,277,817 (GRCm39) |
A689V |
probably damaging |
Het |
| Vmn2r60 |
G |
A |
7: 41,791,666 (GRCm39) |
A530T |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,393,772 (GRCm39) |
M1185K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,149,645 (GRCm39) |
S136P |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,529 (GRCm39) |
N175S |
probably benign |
Het |
| Zfp160 |
A |
T |
17: 21,246,794 (GRCm39) |
H448L |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 107,151,641 (GRCm39) |
C451* |
probably null |
Het |
| Zfp945 |
A |
G |
17: 23,071,264 (GRCm39) |
C212R |
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 |
|
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 |
|
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'- CCACGACTGGTTGTTGGTTC -3'
(R):5'- ACAAAAGGTCTCCAGGACACTG -3'
Sequencing Primer
(F):5'- GGTTCTTCCTCCAACAAAAGTTTCTG -3'
(R):5'- ACTGTGCACTACTACTGGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation