Incidental Mutation 'R6677:Gm4841'
| ID |
527328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4841
|
| Ensembl Gene |
ENSMUSG00000068606 |
| Gene Name |
predicted gene 4841 |
| Synonyms |
|
| MMRRC Submission |
044796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60401373-60406339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60403652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 147
(F147Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090260]
|
| AlphaFold |
E9QAA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090260
AA Change: F147Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087727
Gene: ENSMUSG00000068606
AA Change: F147Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
36 |
409 |
1.2e-129 |
PFAM |
|
Pfam:MMR_HSR1
|
72 |
185 |
2.2e-11 |
PFAM |
|
Pfam:Roc
|
72 |
188 |
1.9e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,261,381 (GRCm39) |
H713Q |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,079,869 (GRCm39) |
T1874A |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,000,218 (GRCm39) |
I289M |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,618,311 (GRCm39) |
D654G |
probably damaging |
Het |
| Bbox1 |
C |
A |
2: 110,135,770 (GRCm39) |
D70Y |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,181 (GRCm39) |
V50D |
possibly damaging |
Het |
| Ccdc168 |
G |
T |
1: 44,097,859 (GRCm39) |
R1080S |
probably benign |
Het |
| Cfap65 |
C |
A |
1: 74,943,844 (GRCm39) |
D1556Y |
probably damaging |
Het |
| Chrm2 |
A |
T |
6: 36,501,027 (GRCm39) |
N295Y |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,529,145 (GRCm39) |
E843V |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,653,855 (GRCm39) |
N701Y |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,166,380 (GRCm39) |
L367F |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,485,445 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,102,228 (GRCm39) |
V1951I |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,123,898 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,444 (GRCm39) |
V359A |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,610 (GRCm39) |
D911E |
probably damaging |
Het |
| Or13a23-ps1 |
T |
G |
7: 140,118,465 (GRCm39) |
F12V |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,962,131 (GRCm39) |
|
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,433,229 (GRCm39) |
I350F |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,484 (GRCm39) |
R125G |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,866,953 (GRCm39) |
D103G |
probably damaging |
Het |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Shroom1 |
G |
A |
11: 53,354,343 (GRCm39) |
A88T |
possibly damaging |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Sult5a1 |
A |
G |
8: 123,876,017 (GRCm39) |
F100L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,990,942 (GRCm39) |
Q579R |
possibly damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Zic5 |
C |
G |
14: 122,702,566 (GRCm39) |
R55P |
unknown |
Het |
|
| Other mutations in Gm4841 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Gm4841
|
APN |
18 |
60,403,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02043:Gm4841
|
APN |
18 |
60,404,037 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02751:Gm4841
|
APN |
18 |
60,404,093 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0277:Gm4841
|
UTSW |
18 |
60,403,718 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0323:Gm4841
|
UTSW |
18 |
60,403,718 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0616:Gm4841
|
UTSW |
18 |
60,404,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0882:Gm4841
|
UTSW |
18 |
60,402,852 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1778:Gm4841
|
UTSW |
18 |
60,404,020 (GRCm39) |
nonsense |
probably null |
|
|
R2035:Gm4841
|
UTSW |
18 |
60,402,929 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2513:Gm4841
|
UTSW |
18 |
60,403,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4242:Gm4841
|
UTSW |
18 |
60,403,755 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4295:Gm4841
|
UTSW |
18 |
60,403,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4574:Gm4841
|
UTSW |
18 |
60,402,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4720:Gm4841
|
UTSW |
18 |
60,403,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5273:Gm4841
|
UTSW |
18 |
60,403,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5314:Gm4841
|
UTSW |
18 |
60,403,364 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5378:Gm4841
|
UTSW |
18 |
60,404,113 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5902:Gm4841
|
UTSW |
18 |
60,403,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Gm4841
|
UTSW |
18 |
60,403,506 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6361:Gm4841
|
UTSW |
18 |
60,403,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Gm4841
|
UTSW |
18 |
60,403,409 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8334:Gm4841
|
UTSW |
18 |
60,404,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9026:Gm4841
|
UTSW |
18 |
60,403,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Gm4841
|
UTSW |
18 |
60,403,961 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9284:Gm4841
|
UTSW |
18 |
60,403,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATAGGAATTTCGGACCTGATTC -3'
(R):5'- AAGTCCAGCCTCATCAATGC -3'
Sequencing Primer
(F):5'- AGATCACAGTCCACCTTG -3'
(R):5'- GCCTCATCAATGCCTTGAGAGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation