Incidental Mutation 'R6929:Gm45861'
| ID |
539902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm45861
|
| Ensembl Gene |
ENSMUSG00000110333 |
| Gene Name |
predicted gene 45861 |
| Synonyms |
|
| MMRRC Submission |
045007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6929 (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 28014462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 655
(D655G)
|
| 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: D597G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210427
AA Change: D655G
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
| Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
| C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
| Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
| Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
| Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
| Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
| Or52z12 |
A |
T |
7: 103,233,651 (GRCm39) |
I141F |
probably damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,034,875 (GRCm39) |
V771A |
possibly damaging |
Het |
| Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,918,695 (GRCm39) |
N43I |
probably damaging |
Het |
| Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
| Zfp663 |
G |
C |
2: 165,195,178 (GRCm39) |
P347R |
probably benign |
Het |
|
| Other mutations in Gm45861 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6286:Gm45861
|
UTSW |
8 |
28,019,619 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- GCTTGGCCAAATACAACAAACTATG -3'
(R):5'- CCCTTAAGTAAAATTTGGAGAACACCG -3'
Sequencing Primer
(F):5'- TACAACAAACTATGCAGAAATCCATC -3'
(R):5'- ATGGGGGCATTGTAAACATTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation