Incidental Mutation 'R9115:Uimc1'
| ID |
692490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uimc1
|
| Ensembl Gene |
ENSMUSG00000025878 |
| Gene Name |
ubiquitin interaction motif containing 1 |
| Synonyms |
D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R9115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55175693-55248113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55198584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 531
(Y531N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026997
(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: Y531N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: Y531N
| 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: Y250N
|
| SMART Domains |
Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: Y250N
| 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: Y531N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: Y531N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aire |
T |
C |
10: 77,879,309 (GRCm39) |
T17A |
|
Het |
| Ankrd31 |
T |
C |
13: 96,940,773 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
C |
T |
16: 95,848,314 (GRCm39) |
R569K |
probably damaging |
Het |
| Capns1 |
A |
T |
7: 29,889,978 (GRCm39) |
I177K |
probably benign |
Het |
| Ccdc182 |
A |
G |
11: 88,185,343 (GRCm39) |
N141S |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,217 (GRCm39) |
W2441R |
probably damaging |
Het |
| Cftr |
A |
T |
6: 18,235,310 (GRCm39) |
R516S |
probably damaging |
Het |
| Ckap4 |
C |
T |
10: 84,363,507 (GRCm39) |
V519M |
probably damaging |
Het |
| Col27a1 |
C |
T |
4: 63,231,974 (GRCm39) |
P1277L |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,797,736 (GRCm39) |
L1400P |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,711,296 (GRCm39) |
F481Y |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,309,011 (GRCm39) |
I1913M |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,490,156 (GRCm39) |
T1989A |
probably damaging |
Het |
| Eef2 |
CC |
CCC |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,754 (GRCm39) |
V1573I |
possibly damaging |
Het |
| Fshr |
T |
A |
17: 89,292,948 (GRCm39) |
I577F |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,707 (GRCm39) |
|
probably null |
Het |
| Gm12695 |
T |
C |
4: 96,657,846 (GRCm39) |
N108D |
possibly damaging |
Het |
| Gm3285 |
T |
A |
10: 77,698,007 (GRCm39) |
L52H |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,575,006 (GRCm39) |
L95* |
probably null |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Klhl26 |
A |
G |
8: 70,904,896 (GRCm39) |
M338T |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,459,686 (GRCm39) |
I104T |
probably benign |
Het |
| Mapk10 |
A |
T |
5: 103,186,532 (GRCm39) |
V60E |
|
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,012 (GRCm39) |
K83* |
probably null |
Het |
| Muc15 |
C |
T |
2: 110,562,089 (GRCm39) |
T175I |
probably damaging |
Het |
| Nmu |
G |
A |
5: 76,511,572 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
G |
T |
2: 153,253,638 (GRCm39) |
T645K |
probably damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,337,869 (GRCm39) |
S416P |
probably benign |
Het |
| Ntn4 |
A |
C |
10: 93,569,675 (GRCm39) |
I463L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or12k7 |
T |
C |
2: 36,959,052 (GRCm39) |
L245P |
probably damaging |
Het |
| Or52h2 |
C |
A |
7: 103,838,931 (GRCm39) |
C161F |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,752,998 (GRCm39) |
R293W |
probably damaging |
Het |
| Pccb |
T |
A |
9: 100,869,908 (GRCm39) |
N341I |
probably damaging |
Het |
| Pgm3 |
G |
A |
9: 86,447,662 (GRCm39) |
L194F |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,478,193 (GRCm39) |
H3L |
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,030 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,803,989 (GRCm39) |
K600* |
probably null |
Het |
| Sema4d |
A |
T |
13: 51,877,596 (GRCm39) |
S79T |
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,534,486 (GRCm39) |
C53R |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,526 (GRCm39) |
I971T |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,453 (GRCm39) |
I60F |
possibly damaging |
Het |
| Tdrkh |
G |
T |
3: 94,335,598 (GRCm39) |
C397F |
possibly damaging |
Het |
| Tecrl |
A |
T |
5: 83,427,906 (GRCm39) |
M314K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,780,496 (GRCm39) |
K1131R |
unknown |
Het |
| Usp5 |
A |
G |
6: 124,803,384 (GRCm39) |
S39P |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,498,744 (GRCm39) |
T62A |
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,153 (GRCm39) |
Y844H |
probably benign |
Het |
| Yars1 |
T |
C |
4: 129,109,143 (GRCm39) |
V458A |
probably benign |
Het |
| Zfp235 |
G |
A |
7: 23,841,453 (GRCm39) |
C624Y |
probably damaging |
Het |
| Zfp712 |
A |
T |
13: 67,189,241 (GRCm39) |
S429T |
probably damaging |
Het |
| Zmynd11 |
A |
T |
13: 9,743,495 (GRCm39) |
D307E |
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 |
|
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 |
|
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'- AATAGCAACTTTGAGGAAAGAGTTC -3'
(R):5'- TCTTGTTCTTTGCAGGAAAAGAC -3'
Sequencing Primer
(F):5'- GACTGATCTTCCAAAGGTCCTGAG -3'
(R):5'- GTTCTTTGCAGGAAAAGACATAAATG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation