Incidental Mutation 'RF033:Gm8369'
ID |
604467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm8369
|
Ensembl Gene |
ENSMUSG00000058470 |
Gene Name |
predicted gene 8369 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
RF033 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11469150-11489941 bp(+) (GRCm39) |
Type of Mutation |
small insertion (2 aa in frame mutation) |
DNA Base Change (assembly) |
GTGTGT to GTGTGTCTGTGT
at 11489142 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 benign
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 benign
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ACACCAAATCCTGCTGTGAC -3'
(R):5'- ACCTCACTTCACTAACATAGGTG -3'
Sequencing Primer
(F):5'- CCAAATCCTGCTGTGACAGTGATG -3'
(R):5'- GTTTGGTCAATTTGCATTCAAACTTC -3'
|
Posted On |
2019-12-04 |