Incidental Mutation 'R1013:Gm8369'
ID |
95934 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm8369
|
Ensembl Gene |
ENSMUSG00000058470 |
Gene Name |
predicted gene 8369 |
Synonyms |
|
MMRRC Submission |
039117-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R1013 (G1)
|
Quality Score |
123 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11469150-11489941 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TG to TGNG
at 11489147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079855]
[ENSMUST00000163078]
[ENSMUST00000186423]
[ENSMUST00000188633]
|
AlphaFold |
E9PZI3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079855
|
SMART Domains |
Protein: ENSMUSP00000132521 Gene: ENSMUSG00000058470
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163078
|
SMART Domains |
Protein: ENSMUSP00000124685 Gene: ENSMUSG00000024677
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
204 |
4.2e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186423
|
SMART Domains |
Protein: ENSMUSP00000140897 Gene: ENSMUSG00000058470
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
1 |
62 |
5.7e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188633
|
SMART Domains |
Protein: ENSMUSP00000141067 Gene: ENSMUSG00000058470
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: ENSMUST00000189628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191475
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
probably benign |
Het |
|
Other mutations in Gm8369 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4192:Gm8369
|
UTSW |
19 |
11,479,596 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- TGCTGTGACAGTGATGGCATCTCC -3'
(R):5'- TGTCTGCTCCTGATCATGAGCAAC -3'
Sequencing Primer
(F):5'- TACAAGAACCACCTGGGAGA -3'
(R):5'- TTGGAGACCTCACTTCACTAACATAG -3'
|
Posted On |
2014-01-05 |