Incidental Mutation 'R4567:Ushbp1'
| ID |
343354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ushbp1
|
| Ensembl Gene |
ENSMUSG00000034911 |
| Gene Name |
USH1 protein network component harmonin binding protein 1 |
| Synonyms |
MCC2, 2210404N08Rik |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71836916-71848446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71838361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 648
(R648W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002466]
[ENSMUST00000049184]
[ENSMUST00000137058]
[ENSMUST00000212626]
|
| AlphaFold |
Q8R370 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002466
|
| SMART Domains |
Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
ZnF_C4
|
54 |
125 |
1.48e-38 |
SMART |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
HOLI
|
191 |
351 |
1.07e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049184
AA Change: R648W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: R648W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
coiled coil region
|
179 |
218 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
288 |
352 |
1.3e-29 |
PFAM |
|
Blast:HOLI
|
467 |
623 |
2e-24 |
BLAST |
|
coiled coil region
|
628 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124732
|
| SMART Domains |
Protein: ENSMUSP00000116498
Gene: ENSMUSG00000002393
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
38 |
80 |
4.35e-4 |
SMART |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
HOLI
|
146 |
254 |
2.72e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137058
|
| SMART Domains |
Protein: ENSMUSP00000121648
Gene: ENSMUSG00000002393
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
62 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
118 |
4.35e-4 |
SMART |
|
Pfam:Hormone_recep
|
175 |
270 |
9.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212516
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
|
| Other mutations in Ushbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Ushbp1
|
APN |
8 |
71,840,076 (GRCm39) |
missense |
probably benign |
|
|
IGL02511:Ushbp1
|
APN |
8 |
71,843,581 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL02586:Ushbp1
|
APN |
8 |
71,841,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL02929:Ushbp1
|
APN |
8 |
71,847,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03127:Ushbp1
|
APN |
8 |
71,847,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0012:Ushbp1
|
UTSW |
8 |
71,847,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0012:Ushbp1
|
UTSW |
8 |
71,847,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0091:Ushbp1
|
UTSW |
8 |
71,841,614 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0097:Ushbp1
|
UTSW |
8 |
71,843,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0097:Ushbp1
|
UTSW |
8 |
71,843,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0242:Ushbp1
|
UTSW |
8 |
71,842,762 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Ushbp1
|
UTSW |
8 |
71,842,762 (GRCm39) |
nonsense |
probably null |
|
|
R0276:Ushbp1
|
UTSW |
8 |
71,847,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0308:Ushbp1
|
UTSW |
8 |
71,843,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0471:Ushbp1
|
UTSW |
8 |
71,847,021 (GRCm39) |
nonsense |
probably null |
|
|
R0726:Ushbp1
|
UTSW |
8 |
71,841,391 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Ushbp1
|
UTSW |
8 |
71,842,868 (GRCm39) |
splice site |
probably null |
|
|
R1451:Ushbp1
|
UTSW |
8 |
71,838,663 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1797:Ushbp1
|
UTSW |
8 |
71,841,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2393:Ushbp1
|
UTSW |
8 |
71,847,132 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2905:Ushbp1
|
UTSW |
8 |
71,840,179 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Ushbp1
|
UTSW |
8 |
71,838,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4977:Ushbp1
|
UTSW |
8 |
71,847,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5151:Ushbp1
|
UTSW |
8 |
71,847,799 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5584:Ushbp1
|
UTSW |
8 |
71,843,623 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5760:Ushbp1
|
UTSW |
8 |
71,840,012 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5769:Ushbp1
|
UTSW |
8 |
71,838,863 (GRCm39) |
missense |
probably benign |
|
|
R6186:Ushbp1
|
UTSW |
8 |
71,843,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6661:Ushbp1
|
UTSW |
8 |
71,843,305 (GRCm39) |
missense |
unknown |
|
|
R7172:Ushbp1
|
UTSW |
8 |
71,841,410 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7252:Ushbp1
|
UTSW |
8 |
71,847,246 (GRCm39) |
missense |
probably benign |
|
|
R7352:Ushbp1
|
UTSW |
8 |
71,841,525 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7650:Ushbp1
|
UTSW |
8 |
71,843,568 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7891:Ushbp1
|
UTSW |
8 |
71,841,422 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8491:Ushbp1
|
UTSW |
8 |
71,845,041 (GRCm39) |
missense |
probably benign |
|
|
R9126:Ushbp1
|
UTSW |
8 |
71,843,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9189:Ushbp1
|
UTSW |
8 |
71,841,539 (GRCm39) |
missense |
probably benign |
|
|
R9680:Ushbp1
|
UTSW |
8 |
71,838,573 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9770:Ushbp1
|
UTSW |
8 |
71,838,868 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Ushbp1
|
UTSW |
8 |
71,843,333 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ushbp1
|
UTSW |
8 |
71,847,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAAGAGACGCTCCAGG -3'
(R):5'- ATGGCGCTCCCTTCTAAGAG -3'
Sequencing Primer
(F):5'- CTGCTGAGGCTGGCAATTAAACTC -3'
(R):5'- CTTCTAAGAGAAGCAGCGGGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation