Incidental Mutation 'R6234:Gm5114'
ID |
504817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5114
|
Ensembl Gene |
ENSMUSG00000053742 |
Gene Name |
predicted gene 5114 |
Synonyms |
|
MMRRC Submission |
044399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R6234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
39056718-39062584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39058768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 284
(T284S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
AlphaFold |
W4VSN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108017
AA Change: T284S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103652 Gene: ENSMUSG00000053742 AA Change: T284S
Domain | Start | End | E-Value | Type |
Pfam:DUF4629
|
435 |
580 |
2.5e-65 |
PFAM |
low complexity region
|
709 |
726 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1263 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
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 |
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 |
R8934:Gm5114
|
UTSW |
7 |
39,060,553 (GRCm39) |
missense |
probably benign |
0.14 |
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'- TCAGTGTCAGTGCAGTGCAG -3'
(R):5'- GCCAAATGCTGTGGTCTCTG -3'
Sequencing Primer
(F):5'- CAAGTCAGGGTGTTCCAAAGTC -3'
(R):5'- CCAAATGCTGTGGTCTCTGAAATG -3'
|
Posted On |
2018-02-28 |