Incidental Mutation 'R1290:Borcs5'
| ID |
150757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Borcs5
|
| Ensembl Gene |
ENSMUSG00000042992 |
| Gene Name |
BLOC-1 related complex subunit 5 |
| Synonyms |
5830457J20Rik, Loh12cr1 |
| MMRRC Submission |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
134616475-134688147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134621331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062755]
[ENSMUST00000166591]
|
| AlphaFold |
Q9D920 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062755
AA Change: D33G
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LOH1CR12
|
61 |
191 |
7.9e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166591
AA Change: D34G
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LOH1CR12
|
62 |
192 |
5.7e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203234
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
| Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
probably benign |
Het |
|
| Other mutations in Borcs5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1174:Borcs5
|
UTSW |
6 |
134,687,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Borcs5
|
UTSW |
6 |
134,687,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Borcs5
|
UTSW |
6 |
134,687,230 (GRCm39) |
missense |
unknown |
|
|
R1953:Borcs5
|
UTSW |
6 |
134,687,230 (GRCm39) |
missense |
unknown |
|
|
R1972:Borcs5
|
UTSW |
6 |
134,687,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4378:Borcs5
|
UTSW |
6 |
134,621,292 (GRCm39) |
missense |
probably benign |
|
|
R5622:Borcs5
|
UTSW |
6 |
134,663,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6543:Borcs5
|
UTSW |
6 |
134,687,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Borcs5
|
UTSW |
6 |
134,687,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Borcs5
|
UTSW |
6 |
134,687,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Borcs5
|
UTSW |
6 |
134,662,945 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7555:Borcs5
|
UTSW |
6 |
134,662,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8219:Borcs5
|
UTSW |
6 |
134,621,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8944:Borcs5
|
UTSW |
6 |
134,621,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9153:Borcs5
|
UTSW |
6 |
134,618,108 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Borcs5
|
UTSW |
6 |
134,687,086 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACAGCACCACTCTTGGAAGAAG -3'
(R):5'- TTCAGACAGGGCATTCAGGGAGAC -3'
Sequencing Primer
(F):5'- gctcacaacctgatgccc -3'
(R):5'- CAGGGAGACTTTTCAGAGACTATGTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation