Incidental Mutation 'R6286:Gm45861'
| ID |
508232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm45861
|
| Ensembl Gene |
ENSMUSG00000110333 |
| Gene Name |
predicted gene 45861 |
| Synonyms |
|
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937128-28110945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28019619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 745
(T745A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209669]
[ENSMUST00000210427]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000209669
AA Change: T687A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210427
AA Change: T745A
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
probably damaging |
Het |
|
| Other mutations in Gm45861 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6580:Gm45861
|
UTSW |
8 |
28,034,979 (GRCm39) |
missense |
unknown |
|
|
R6650:Gm45861
|
UTSW |
8 |
27,995,043 (GRCm39) |
missense |
unknown |
|
|
R6784:Gm45861
|
UTSW |
8 |
27,990,086 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6881:Gm45861
|
UTSW |
8 |
28,025,279 (GRCm39) |
splice site |
probably null |
|
|
R6909:Gm45861
|
UTSW |
8 |
28,017,109 (GRCm39) |
missense |
unknown |
|
|
R6929:Gm45861
|
UTSW |
8 |
28,014,462 (GRCm39) |
missense |
unknown |
|
|
R6959:Gm45861
|
UTSW |
8 |
28,038,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7023:Gm45861
|
UTSW |
8 |
28,071,034 (GRCm39) |
missense |
unknown |
|
|
R7157:Gm45861
|
UTSW |
8 |
28,032,537 (GRCm39) |
missense |
unknown |
|
|
R7157:Gm45861
|
UTSW |
8 |
28,032,536 (GRCm39) |
nonsense |
probably null |
|
|
R7453:Gm45861
|
UTSW |
8 |
28,031,686 (GRCm39) |
missense |
unknown |
|
|
R7462:Gm45861
|
UTSW |
8 |
28,024,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7545:Gm45861
|
UTSW |
8 |
28,071,032 (GRCm39) |
missense |
unknown |
|
|
R7674:Gm45861
|
UTSW |
8 |
28,030,147 (GRCm39) |
missense |
unknown |
|
|
R7840:Gm45861
|
UTSW |
8 |
28,072,751 (GRCm39) |
missense |
unknown |
|
|
R7938:Gm45861
|
UTSW |
8 |
28,071,990 (GRCm39) |
missense |
unknown |
|
|
R8092:Gm45861
|
UTSW |
8 |
28,057,823 (GRCm39) |
missense |
unknown |
|
|
R8242:Gm45861
|
UTSW |
8 |
28,038,821 (GRCm39) |
missense |
unknown |
|
|
R8856:Gm45861
|
UTSW |
8 |
28,010,788 (GRCm39) |
missense |
unknown |
|
|
R8900:Gm45861
|
UTSW |
8 |
28,019,632 (GRCm39) |
missense |
unknown |
|
|
R8988:Gm45861
|
UTSW |
8 |
28,032,531 (GRCm39) |
missense |
unknown |
|
|
R9067:Gm45861
|
UTSW |
8 |
27,995,043 (GRCm39) |
missense |
unknown |
|
|
R9251:Gm45861
|
UTSW |
8 |
28,032,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9266:Gm45861
|
UTSW |
8 |
28,074,674 (GRCm39) |
missense |
unknown |
|
|
R9455:Gm45861
|
UTSW |
8 |
28,041,394 (GRCm39) |
nonsense |
probably null |
|
|
R9643:Gm45861
|
UTSW |
8 |
27,994,083 (GRCm39) |
missense |
unknown |
|
|
R9684:Gm45861
|
UTSW |
8 |
28,014,601 (GRCm39) |
missense |
unknown |
|
|
R9729:Gm45861
|
UTSW |
8 |
28,045,436 (GRCm39) |
missense |
unknown |
|
|
Z1176:Gm45861
|
UTSW |
8 |
28,074,897 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gm45861
|
UTSW |
8 |
28,059,979 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gm45861
|
UTSW |
8 |
28,025,397 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTGGCTATGATGTATCATC -3'
(R):5'- TTCCCAAGAGCAGCCTGAAG -3'
Sequencing Primer
(F):5'- TGGCTATGATGTATCATCTTCTACTG -3'
(R):5'- GGAACTCCGCATGTACTATTACAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation