Incidental Mutation 'BB015:Gm5773'
| ID |
642844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5773
|
| Ensembl Gene |
ENSMUSG00000068879 |
| Gene Name |
predicted pseudogene 5773 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
BB015
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93680307-93681449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93680997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 223
(E223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090853]
|
| AlphaFold |
Q717B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090853
AA Change: E223G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088366
Gene: ENSMUSG00000068879
AA Change: E223G
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
40 |
130 |
2.58e-7 |
SMART |
|
BTB
|
188 |
287 |
2.82e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
| Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
| Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
| Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
| Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
| Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
| Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
| Other mutations in Gm5773 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02954:Gm5773
|
APN |
3 |
93,680,358 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03411:Gm5773
|
APN |
3 |
93,681,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB005:Gm5773
|
UTSW |
3 |
93,680,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0239:Gm5773
|
UTSW |
3 |
93,681,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0239:Gm5773
|
UTSW |
3 |
93,681,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1087:Gm5773
|
UTSW |
3 |
93,681,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Gm5773
|
UTSW |
3 |
93,681,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2122:Gm5773
|
UTSW |
3 |
93,680,624 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2182:Gm5773
|
UTSW |
3 |
93,680,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4615:Gm5773
|
UTSW |
3 |
93,681,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4650:Gm5773
|
UTSW |
3 |
93,680,712 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5127:Gm5773
|
UTSW |
3 |
93,680,735 (GRCm39) |
missense |
probably benign |
|
|
R5141:Gm5773
|
UTSW |
3 |
93,681,034 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5347:Gm5773
|
UTSW |
3 |
93,681,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6883:Gm5773
|
UTSW |
3 |
93,681,162 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6962:Gm5773
|
UTSW |
3 |
93,681,234 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7444:Gm5773
|
UTSW |
3 |
93,680,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Gm5773
|
UTSW |
3 |
93,680,323 (GRCm39) |
start gained |
probably benign |
|
|
R7743:Gm5773
|
UTSW |
3 |
93,680,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7916:Gm5773
|
UTSW |
3 |
93,680,586 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7928:Gm5773
|
UTSW |
3 |
93,680,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7992:Gm5773
|
UTSW |
3 |
93,680,373 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8024:Gm5773
|
UTSW |
3 |
93,680,475 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8500:Gm5773
|
UTSW |
3 |
93,680,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8805:Gm5773
|
UTSW |
3 |
93,681,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Gm5773
|
UTSW |
3 |
93,681,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9281:Gm5773
|
UTSW |
3 |
93,680,891 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9554:Gm5773
|
UTSW |
3 |
93,680,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Gm5773
|
UTSW |
3 |
93,680,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATCTTAAACATGCCTGGAC -3'
(R):5'- AGGTTCCTGCAGAGGGAATC -3'
Sequencing Primer
(F):5'- TGCCTGGACAGAACATGATACCTG -3'
(R):5'- GGGAATCCTCACATATGACCTTC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation