Incidental Mutation 'R6580:Gm45861'
| ID |
524084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm45861
|
| Ensembl Gene |
ENSMUSG00000110333 |
| Gene Name |
predicted gene 45861 |
| Synonyms |
|
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6580 (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 28034979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 976
(K976E)
|
| 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: K918E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210427
AA Change: K976E
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Gm45861 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6286:Gm45861
|
UTSW |
8 |
28,019,619 (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'- GTATGGCAATTGTTTTCCATGC -3'
(R):5'- GTAGCTCACAATGATGGAAACC -3'
Sequencing Primer
(F):5'- GTTTTCCATGCTAAAATTCTGCATG -3'
(R):5'- CCAGCAAACGCCTCATTTTTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation