Incidental Mutation 'RF055:Gm8369'
| ID |
605250 |
| 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: 0.054)
|
| Stock # |
RF055 (G1)
|
| Quality Score |
197.468 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11469150-11489941 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GTGT to GTGTTTGT
at 11489112 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B430218F22Rik |
GGCGGCGGCGGCG |
GGCGGCGGCGGCGGCGGCG |
13: 118,523,385 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,104,906 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
T |
6: 47,494,067 (GRCm39) |
D460V |
probably damaging |
Het |
| Cyb5r4 |
CTGCCCAGGGATGTGACAGACACA |
CTGCCCAGGGATGTGACAGACACAATGCCCAGGGATGTGACAGACACA |
9: 86,922,467 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CT |
CTTCCCAGGGATGTGACAGACACATT |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGTGGAAGTGGTGG |
GTGGTGGAAGTGGTGGAAGTTGTGGAATTGGTGGAAGTGGTGG |
7: 30,466,616 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
CTACCTCGTT |
CTACCTCGTTTTGGGGGCGGAGCACAGTTCGTACCTCGTT |
9: 20,821,432 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CCTACCTCGTT |
CCTACCTCGTTTTGGAGGCGGAGCACAGTTGCTACCTCGTT |
9: 20,821,431 (GRCm39) |
|
probably null |
Het |
| Fam171b |
AGCAGC |
AGCAGCCGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,593 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,616 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CAGGCTCA |
C |
X: 71,313,783 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGGCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
| Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
| Gucy2d |
CTGGG |
CTGGGGGTCGTGGG |
7: 98,108,248 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
CACATTG |
CACATTGAGTACATTG |
6: 145,119,511 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGCTCTCG,TGCGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
GCCACA |
GCCACATCCACA |
1: 83,019,851 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCC |
CACAGCCACAGCCGCAACAGCCACAGCC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,443 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,404 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTCAGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,004 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
AAGACAGAGACCGGGATCGAGACAGAGAC |
AAGACAGAGACCGGGATCGAGACAGAGACAGAGACCGGGATCGAGACAGAGAC |
17: 35,073,038 (GRCm39) |
|
probably benign |
Het |
| Osmr |
CTTCT |
CTTCTTCT |
15: 6,867,181 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GGCGGCAGCGGC |
GGCGGCAGCGGCAGCGGC |
4: 124,551,589 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTTGTGGTGGT |
7: 127,384,471 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
G |
A |
8: 64,396,203 (GRCm39) |
R18C |
probably damaging |
Het |
| Spata31h1 |
AATG |
AATGTCAATG |
10: 82,126,827 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CGA |
CGAACCTCCCCAGTCCCGCAAGGCCAGTGA |
5: 77,164,250 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGAAGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
GCTGGCTAGGCTCTTCCTGTTGGTTGGGTTGATCCTTCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
GCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
7: 12,508,352 (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 |
|
|
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 |
|
|
Z1176:Gm8369
|
UTSW |
19 |
11,488,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGACTATACTGGGTGAC -3'
(R):5'- GCCAATTCAATGCCCTTTGTAC -3'
Sequencing Primer
(F):5'- CTGACTATACTGGGTGACTCAATGAC -3'
(R):5'- ATTCAATGCCCTTTGTACATTAAATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation