Incidental Mutation 'R8934:Gm5114'
| ID |
680517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5114
|
| Ensembl Gene |
ENSMUSG00000053742 |
| Gene Name |
predicted gene 5114 |
| Synonyms |
|
| MMRRC Submission |
068777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
39056718-39062584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39060553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 99
(W99R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
| AlphaFold |
W4VSN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108017
AA Change: W99R
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: W99R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
435 |
580 |
2.5e-65 |
PFAM |
|
low complexity region
|
709 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,429,661 (GRCm39) |
Y87H |
probably damaging |
Het |
| Adad2 |
G |
A |
8: 120,341,535 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,300,015 (GRCm39) |
T901A |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,463,510 (GRCm39) |
I779F |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,944 (GRCm39) |
T1457A |
probably benign |
Het |
| Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
| C4b |
G |
A |
17: 34,951,958 (GRCm39) |
R1296C |
possibly damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,402 (GRCm39) |
L206Q |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,690 (GRCm39) |
T87A |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,491,695 (GRCm39) |
N376K |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,786 (GRCm39) |
I120K |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,420,217 (GRCm39) |
E384G |
possibly damaging |
Het |
| Dipk1b |
G |
A |
2: 26,524,866 (GRCm39) |
V89M |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,450,288 (GRCm39) |
S634P |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,639 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,738 (GRCm39) |
R185H |
probably damaging |
Het |
| Epdr1 |
T |
C |
13: 19,777,350 (GRCm39) |
E216G |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,101 (GRCm39) |
H86R |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,433,909 (GRCm39) |
C27G |
probably damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,469,469 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,407 (GRCm39) |
*758W |
probably null |
Het |
| Il1rap |
T |
C |
16: 26,495,734 (GRCm39) |
C114R |
probably damaging |
Het |
| Irf6 |
T |
C |
1: 192,845,033 (GRCm39) |
I168T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,759,767 (GRCm39) |
I1164V |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,021,168 (GRCm39) |
L915P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,273,909 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
C |
A |
2: 26,092,258 (GRCm39) |
R211L |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,882,062 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,334,386 (GRCm39) |
S1297P |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,306,852 (GRCm39) |
T232S |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,688,868 (GRCm39) |
F377L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,889,085 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
A |
2: 90,112,356 (GRCm39) |
T188S |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,290 (GRCm39) |
V202A |
probably benign |
Het |
| Pgbd5 |
A |
C |
8: 125,110,998 (GRCm39) |
V231G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,606,666 (GRCm39) |
L240P |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,462,234 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
T |
A |
1: 191,100,835 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,345 (GRCm39) |
L462F |
possibly damaging |
Het |
| Prss30 |
C |
T |
17: 24,192,628 (GRCm39) |
C147Y |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,546,297 (GRCm39) |
V318M |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,599,730 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,303,219 (GRCm39) |
Q184R |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,298,705 (GRCm39) |
Q362L |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,327 (GRCm39) |
K274E |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,089,584 (GRCm39) |
I778K |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,745,338 (GRCm39) |
L22F |
possibly damaging |
Het |
| St7l |
A |
G |
3: 104,796,634 (GRCm39) |
E249G |
probably damaging |
Het |
| Tmem237 |
T |
C |
1: 59,153,338 (GRCm39) |
N61S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,038,416 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
G |
T |
11: 102,204,855 (GRCm39) |
P115T |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,188 (GRCm39) |
I508F |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,714 (GRCm39) |
C502S |
probably damaging |
Het |
|
| Other mutations in Gm5114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Gm5114
|
APN |
7 |
39,060,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL01295:Gm5114
|
APN |
7 |
39,057,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Gm5114
|
APN |
7 |
39,058,531 (GRCm39) |
missense |
probably benign |
|
|
IGL01633:Gm5114
|
APN |
7 |
39,057,490 (GRCm39) |
missense |
probably benign |
|
|
IGL01634:Gm5114
|
APN |
7 |
39,058,071 (GRCm39) |
missense |
probably benign |
|
|
IGL02072:Gm5114
|
APN |
7 |
39,060,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,529 (GRCm39) |
missense |
probably benign |
|
|
R0034:Gm5114
|
UTSW |
7 |
39,058,282 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0127:Gm5114
|
UTSW |
7 |
39,057,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0328:Gm5114
|
UTSW |
7 |
39,057,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Gm5114
|
UTSW |
7 |
39,058,233 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0693:Gm5114
|
UTSW |
7 |
39,058,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1006:Gm5114
|
UTSW |
7 |
39,058,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Gm5114
|
UTSW |
7 |
39,058,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Gm5114
|
UTSW |
7 |
39,058,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3834:Gm5114
|
UTSW |
7 |
39,058,161 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4320:Gm5114
|
UTSW |
7 |
39,057,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Gm5114
|
UTSW |
7 |
39,057,792 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5443:Gm5114
|
UTSW |
7 |
39,058,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5471:Gm5114
|
UTSW |
7 |
39,058,534 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Gm5114
|
UTSW |
7 |
39,060,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Gm5114
|
UTSW |
7 |
39,058,024 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6234:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6326:Gm5114
|
UTSW |
7 |
39,057,579 (GRCm39) |
missense |
probably benign |
|
|
R6443:Gm5114
|
UTSW |
7 |
39,057,141 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6530:Gm5114
|
UTSW |
7 |
39,057,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Gm5114
|
UTSW |
7 |
39,057,997 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6770:Gm5114
|
UTSW |
7 |
39,057,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6885:Gm5114
|
UTSW |
7 |
39,057,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6980:Gm5114
|
UTSW |
7 |
39,058,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7100:Gm5114
|
UTSW |
7 |
39,057,708 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7215:Gm5114
|
UTSW |
7 |
39,060,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Gm5114
|
UTSW |
7 |
39,058,390 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7343:Gm5114
|
UTSW |
7 |
39,058,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7474:Gm5114
|
UTSW |
7 |
39,057,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7499:Gm5114
|
UTSW |
7 |
39,058,489 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8022:Gm5114
|
UTSW |
7 |
39,058,800 (GRCm39) |
missense |
probably benign |
|
|
R8121:Gm5114
|
UTSW |
7 |
39,057,552 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8201:Gm5114
|
UTSW |
7 |
39,060,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8212:Gm5114
|
UTSW |
7 |
39,060,676 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8321:Gm5114
|
UTSW |
7 |
39,060,273 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8725:Gm5114
|
UTSW |
7 |
39,060,657 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8752:Gm5114
|
UTSW |
7 |
39,057,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8891:Gm5114
|
UTSW |
7 |
39,057,718 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8969:Gm5114
|
UTSW |
7 |
39,058,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Gm5114
|
UTSW |
7 |
39,060,486 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9419:Gm5114
|
UTSW |
7 |
39,057,540 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9453:Gm5114
|
UTSW |
7 |
39,058,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Gm5114
|
UTSW |
7 |
39,057,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm5114
|
UTSW |
7 |
39,058,750 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGTGCCAGGCTGTATTC -3'
(R):5'- TCTCCACCCCAGATGTGAGTTC -3'
Sequencing Primer
(F):5'- TGTGACCTGGACAAAGCTG -3'
(R):5'- ACCCCAGATGTGAGTTCAGCATG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation