Incidental Mutation 'R0801:Usb1'
ID |
76283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usb1
|
Ensembl Gene |
ENSMUSG00000031792 |
Gene Name |
U6 snRNA biogenesis 1 |
Synonyms |
AA960436 |
MMRRC Submission |
038981-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R0801 (G1)
|
Quality Score |
165 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
96058912-96074135 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 96060168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034245]
[ENSMUST00000034245]
[ENSMUST00000057717]
[ENSMUST00000126180]
[ENSMUST00000126180]
[ENSMUST00000213059]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000034245
|
SMART Domains |
Protein: ENSMUSP00000034245 Gene: ENSMUSG00000031792
Domain | Start | End | E-Value | Type |
Pfam:HVSL
|
45 |
265 |
6.3e-70 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000034245
|
SMART Domains |
Protein: ENSMUSP00000034245 Gene: ENSMUSG00000031792
Domain | Start | End | E-Value | Type |
Pfam:HVSL
|
45 |
265 |
6.3e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057717
|
SMART Domains |
Protein: ENSMUSP00000053397 Gene: ENSMUSG00000046556
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
29 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
Blast:ZnF_C2H2
|
75 |
99 |
6e-7 |
BLAST |
ZnF_C2H2
|
103 |
123 |
7.57e1 |
SMART |
ZnF_C2H2
|
131 |
153 |
8.67e-1 |
SMART |
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
ZnF_C2H2
|
201 |
223 |
9.73e-4 |
SMART |
ZnF_C2H2
|
229 |
251 |
1.47e-3 |
SMART |
ZnF_C2H2
|
257 |
279 |
1.12e-3 |
SMART |
ZnF_C2H2
|
314 |
336 |
6.42e-4 |
SMART |
ZnF_C2H2
|
342 |
364 |
1.2e-3 |
SMART |
ZnF_C2H2
|
370 |
392 |
8.81e-2 |
SMART |
ZnF_C2H2
|
398 |
418 |
2.75e1 |
SMART |
ZnF_C2H2
|
427 |
449 |
1.84e-4 |
SMART |
ZnF_C2H2
|
457 |
477 |
1.27e2 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.79e-4 |
SMART |
ZnF_C2H2
|
513 |
535 |
6.42e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
4.11e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126180
|
SMART Domains |
Protein: ENSMUSP00000122529 Gene: ENSMUSG00000031792
Domain | Start | End | E-Value | Type |
Pfam:HVSL
|
1 |
113 |
6.4e-36 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126180
|
SMART Domains |
Protein: ENSMUSP00000122529 Gene: ENSMUSG00000031792
Domain | Start | End | E-Value | Type |
Pfam:HVSL
|
1 |
113 |
6.4e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145060
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213059
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
Validation Efficiency |
98% (48/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
T |
A |
6: 83,949,220 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Usb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03164:Usb1
|
APN |
8 |
96,060,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Usb1
|
UTSW |
8 |
96,060,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Usb1
|
UTSW |
8 |
96,071,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Usb1
|
UTSW |
8 |
96,070,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Usb1
|
UTSW |
8 |
96,065,325 (GRCm39) |
missense |
probably benign |
0.00 |
R2230:Usb1
|
UTSW |
8 |
96,070,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R2231:Usb1
|
UTSW |
8 |
96,070,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Usb1
|
UTSW |
8 |
96,070,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R2402:Usb1
|
UTSW |
8 |
96,069,759 (GRCm39) |
missense |
probably benign |
0.06 |
R2507:Usb1
|
UTSW |
8 |
96,069,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Usb1
|
UTSW |
8 |
96,060,061 (GRCm39) |
missense |
probably benign |
0.35 |
R5085:Usb1
|
UTSW |
8 |
96,070,679 (GRCm39) |
missense |
probably damaging |
0.98 |
R5834:Usb1
|
UTSW |
8 |
96,060,161 (GRCm39) |
utr 3 prime |
probably benign |
|
R7398:Usb1
|
UTSW |
8 |
96,071,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Usb1
|
UTSW |
8 |
96,060,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R8816:Usb1
|
UTSW |
8 |
96,071,984 (GRCm39) |
missense |
probably benign |
0.13 |
R9716:Usb1
|
UTSW |
8 |
96,070,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Usb1
|
UTSW |
8 |
96,065,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCGAGGCCAACATGGCAAGAC -3'
(R):5'- TAGCTGACAGAACACCCAGTGCAG -3'
Sequencing Primer
(F):5'- ccaacatggcaagacTGGTG -3'
(R):5'- TGCAGGAAGGTCTACTTCAGC -3'
|
Posted On |
2013-10-16 |