Incidental Mutation 'RF050:Gm6665'
| ID |
605128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm6665
|
| Ensembl Gene |
ENSMUSG00000091561 |
| Gene Name |
predicted gene 6665 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
RF050 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31952915-31953572 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
T to TC
at 31953430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025264]
[ENSMUST00000082319]
[ENSMUST00000165131]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025264
|
| SMART Domains |
Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
107 |
147 |
2.15e-1 |
SMART |
|
WD40
|
150 |
189 |
5.77e-5 |
SMART |
|
WD40
|
191 |
230 |
1.89e-9 |
SMART |
|
WD40
|
233 |
274 |
2.59e-7 |
SMART |
|
WD40
|
277 |
316 |
2.73e-6 |
SMART |
|
WD40
|
320 |
360 |
1.71e-7 |
SMART |
|
WD40
|
364 |
403 |
1.52e-4 |
SMART |
|
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
coiled coil region
|
531 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
761 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
778 |
803 |
3.47e-9 |
PROSPERO |
|
low complexity region
|
806 |
818 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
821 |
845 |
3.47e-9 |
PROSPERO |
|
low complexity region
|
848 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1049 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082319
|
| SMART Domains |
Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
107 |
147 |
2.15e-1 |
SMART |
|
WD40
|
150 |
189 |
5.77e-5 |
SMART |
|
WD40
|
191 |
230 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165131
|
| SMART Domains |
Protein: ENSMUSP00000129853
Gene: ENSMUSG00000091561
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
47 |
6.3e-12 |
PFAM |
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,980 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACCGCC |
ACCGCCGCC |
10: 4,511,008 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCC |
CAGCCCAAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CAGGCT |
CAGGCTAAGGCT |
X: 71,314,347 (GRCm39) |
|
probably null |
Het |
| Garin5a |
CTGGGTCTGAGGGAGGA |
CTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACATGGGTCTGAGGGAGGA |
7: 44,149,945 (GRCm39) |
|
probably null |
Het |
| Gm38119 |
C |
T |
3: 92,645,196 (GRCm39) |
G133S |
not run |
Het |
| Lca5l |
TGGCCCTGGCCCCGGCCC |
TGGCCC |
16: 95,960,501 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
CGGCGG |
CGGCGGAGGCGG |
4: 124,551,597 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
CGGCAG |
CGGCAGAGGCAG |
8: 85,682,799 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTTGGC |
CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCGTTGGC |
18: 60,966,651 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm6665 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:Gm6665
|
APN |
18 |
31,953,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01873:Gm6665
|
APN |
18 |
31,953,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Gm6665
|
UTSW |
18 |
31,953,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1797:Gm6665
|
UTSW |
18 |
31,953,186 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1922:Gm6665
|
UTSW |
18 |
31,953,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6123:Gm6665
|
UTSW |
18 |
31,952,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8468:Gm6665
|
UTSW |
18 |
31,953,453 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF020:Gm6665
|
UTSW |
18 |
31,953,430 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTTCTCCAAAATGTCCAC -3'
(R):5'- TACACACTAGAGCCCTTGCCTG -3'
Sequencing Primer
(F):5'- GGTTCTCCAAAATGTCCACACGAATC -3'
(R):5'- CAGAGGTCCTGAGTTCAATTTCCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation