Incidental Mutation 'R5460:Ubxn11'
| ID |
432961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubxn11
|
| Ensembl Gene |
ENSMUSG00000012126 |
| Gene Name |
UBX domain protein 11 |
| Synonyms |
4930506L07Rik, Soci, Ubxd5 |
| MMRRC Submission |
042849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133829811-133854095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133852396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 210
(E210D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030651]
[ENSMUST00000040271]
[ENSMUST00000070246]
[ENSMUST00000074690]
[ENSMUST00000105879]
[ENSMUST00000121566]
[ENSMUST00000151113]
|
| AlphaFold |
Q9D572 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030651
|
| SMART Domains |
Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
2 |
93 |
6.3e-40 |
PFAM |
|
Pfam:Glutaredoxin
|
22 |
70 |
9.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040271
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
333 |
656 |
N/A |
INTRINSIC |
|
coiled coil region
|
725 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070246
AA Change: E210D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: E210D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SEP
|
114 |
185 |
1.5e-20 |
PFAM |
|
UBX
|
268 |
350 |
2.3e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074690
AA Change: E328D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: E328D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
147 |
N/A |
INTRINSIC |
|
Pfam:SEP
|
232 |
303 |
7.9e-20 |
PFAM |
|
UBX
|
386 |
468 |
2.3e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121566
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
331 |
654 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131329
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151113
AA Change: E77D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: E77D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SEP
|
15 |
64 |
2e-13 |
BLAST |
|
SCOP:d1i42a_
|
129 |
173 |
4e-5 |
SMART |
|
Blast:UBX
|
135 |
174 |
1e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135287
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,230,342 (GRCm39) |
N304S |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
| Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
| Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
| Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
| Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
| Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,417 (GRCm39) |
D230V |
probably benign |
Het |
| Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
| Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
| Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
| Morf4l1 |
G |
A |
9: 89,977,183 (GRCm39) |
T246I |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,913,082 (GRCm39) |
R542C |
possibly damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
| Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
| Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
| Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,635,316 (GRCm39) |
F131I |
probably benign |
Het |
|
| Other mutations in Ubxn11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02547:Ubxn11
|
APN |
4 |
133,836,895 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02559:Ubxn11
|
APN |
4 |
133,852,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0015:Ubxn11
|
UTSW |
4 |
133,843,336 (GRCm39) |
splice site |
probably null |
|
|
R0586:Ubxn11
|
UTSW |
4 |
133,836,963 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1449:Ubxn11
|
UTSW |
4 |
133,852,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ubxn11
|
UTSW |
4 |
133,851,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1860:Ubxn11
|
UTSW |
4 |
133,852,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Ubxn11
|
UTSW |
4 |
133,835,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Ubxn11
|
UTSW |
4 |
133,843,431 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4840:Ubxn11
|
UTSW |
4 |
133,836,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Ubxn11
|
UTSW |
4 |
133,850,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Ubxn11
|
UTSW |
4 |
133,853,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Ubxn11
|
UTSW |
4 |
133,850,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Ubxn11
|
UTSW |
4 |
133,853,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7195:Ubxn11
|
UTSW |
4 |
133,853,726 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7448:Ubxn11
|
UTSW |
4 |
133,852,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Ubxn11
|
UTSW |
4 |
133,853,540 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8705:Ubxn11
|
UTSW |
4 |
133,853,551 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9797:Ubxn11
|
UTSW |
4 |
133,851,426 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATCAGATCTACCCAGAGGATG -3'
(R):5'- TGGCAAGAGACTGTAGGCTG -3'
Sequencing Primer
(F):5'- AGGATGGTCTGGGCCAATTCC -3'
(R):5'- AAAAGTCCCCTGCAGAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation