Incidental Mutation 'R4192:Gm8369'
| ID |
318377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm8369
|
| Ensembl Gene |
ENSMUSG00000058470 |
| Gene Name |
predicted gene 8369 |
| Synonyms |
|
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
11469150-11489941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11479596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 9
(P9S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079855]
[ENSMUST00000186423]
[ENSMUST00000188633]
|
| AlphaFold |
E9PZI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079855
AA Change: P9S
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132521
Gene: ENSMUSG00000058470
AA Change: P9S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186423
AA Change: P9S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140897
Gene: ENSMUSG00000058470
AA Change: P9S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
1 |
62 |
5.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188633
AA Change: P9S
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141067
Gene: ENSMUSG00000058470
AA Change: P9S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
2 |
48 |
3.7e-9 |
PFAM |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191475
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
probably damaging |
Het |
|
| Other mutations in Gm8369 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1013:Gm8369
|
UTSW |
19 |
11,489,147 (GRCm39) |
frame shift |
probably null |
|
|
R5445:Gm8369
|
UTSW |
19 |
11,482,170 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5809:Gm8369
|
UTSW |
19 |
11,482,248 (GRCm39) |
intron |
probably benign |
|
|
R6258:Gm8369
|
UTSW |
19 |
11,488,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6791:Gm8369
|
UTSW |
19 |
11,489,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9565:Gm8369
|
UTSW |
19 |
11,489,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9683:Gm8369
|
UTSW |
19 |
11,489,097 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9778:Gm8369
|
UTSW |
19 |
11,489,128 (GRCm39) |
frame shift |
probably null |
|
|
RF004:Gm8369
|
UTSW |
19 |
11,489,118 (GRCm39) |
small insertion |
probably benign |
|
|
RF006:Gm8369
|
UTSW |
19 |
11,489,128 (GRCm39) |
small insertion |
probably benign |
|
|
RF008:Gm8369
|
UTSW |
19 |
11,489,118 (GRCm39) |
frame shift |
probably null |
|
|
RF016:Gm8369
|
UTSW |
19 |
11,489,118 (GRCm39) |
frame shift |
probably null |
|
|
RF017:Gm8369
|
UTSW |
19 |
11,489,106 (GRCm39) |
frame shift |
probably null |
|
|
RF018:Gm8369
|
UTSW |
19 |
11,489,106 (GRCm39) |
frame shift |
probably null |
|
|
RF025:Gm8369
|
UTSW |
19 |
11,489,137 (GRCm39) |
frame shift |
probably null |
|
|
RF028:Gm8369
|
UTSW |
19 |
11,489,137 (GRCm39) |
nonsense |
probably null |
|
|
RF032:Gm8369
|
UTSW |
19 |
11,489,142 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Gm8369
|
UTSW |
19 |
11,489,142 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Gm8369
|
UTSW |
19 |
11,489,137 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Gm8369
|
UTSW |
19 |
11,489,142 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Gm8369
|
UTSW |
19 |
11,489,146 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Gm8369
|
UTSW |
19 |
11,489,146 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Gm8369
|
UTSW |
19 |
11,489,122 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Gm8369
|
UTSW |
19 |
11,489,122 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Gm8369
|
UTSW |
19 |
11,489,142 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Gm8369
|
UTSW |
19 |
11,489,137 (GRCm39) |
frame shift |
probably null |
|
|
RF054:Gm8369
|
UTSW |
19 |
11,489,128 (GRCm39) |
frame shift |
probably null |
|
|
RF055:Gm8369
|
UTSW |
19 |
11,489,112 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Gm8369
|
UTSW |
19 |
11,488,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTAGTACATCTCATCTGTATAGG -3'
(R):5'- CAGTTCACCGATCTTATATGAGTG -3'
Sequencing Primer
(F):5'- CTCATCTGTATAGGAAGACAATTGAC -3'
(R):5'- CACCGATCTTATATGAGTGGCATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation