Incidental Mutation 'R8752:Gm5114'
| ID |
663913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5114
|
| Ensembl Gene |
ENSMUSG00000053742 |
| Gene Name |
predicted gene 5114 |
| Synonyms |
|
| MMRRC Submission |
068595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8752 (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 T
at 39057927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 564
(M564K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
| AlphaFold |
W4VSN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108017
AA Change: M564K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: M564K
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,396 (GRCm39) |
K82R |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,328 (GRCm39) |
C375* |
probably null |
Het |
| Adat2 |
A |
T |
10: 13,432,604 (GRCm39) |
E35D |
probably benign |
Het |
| Afm |
A |
C |
5: 90,700,424 (GRCm39) |
E600D |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,992,901 (GRCm39) |
D4728E |
probably damaging |
Het |
| Ak7 |
AAGGAG |
AAG |
12: 105,713,476 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
C |
A |
14: 31,477,699 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 96,916,879 (GRCm39) |
H131L |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,196,617 (GRCm39) |
F183L |
probably damaging |
Het |
| Asah1 |
G |
A |
8: 41,813,314 (GRCm39) |
S33L |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,818 (GRCm39) |
Y293H |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,102,529 (GRCm39) |
F30S |
probably damaging |
Het |
| Ces1c |
C |
G |
8: 93,846,964 (GRCm39) |
A243P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 55,044,280 (GRCm39) |
T149S |
probably benign |
Het |
| Dnah14 |
G |
A |
1: 181,455,581 (GRCm39) |
R902H |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,290,365 (GRCm39) |
I1252V |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,701 (GRCm39) |
I2643V |
probably benign |
Het |
| Dnajc4 |
C |
T |
19: 6,966,801 (GRCm39) |
V177I |
probably benign |
Het |
| Efhc1 |
A |
T |
1: 21,059,692 (GRCm39) |
N581Y |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,214,759 (GRCm39) |
T767A |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,391 (GRCm39) |
E382G |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,878,094 (GRCm39) |
D35E |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,513 (GRCm39) |
V181A |
possibly damaging |
Het |
| Gpr45 |
A |
T |
1: 43,071,842 (GRCm39) |
I162F |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,060,206 (GRCm39) |
F47S |
probably benign |
Het |
| Hsf1 |
C |
A |
15: 76,384,344 (GRCm39) |
S417* |
probably null |
Het |
| Id4 |
A |
T |
13: 48,415,065 (GRCm39) |
H31L |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,328,265 (GRCm39) |
S322G |
probably damaging |
Het |
| Lcn11 |
T |
C |
2: 25,668,138 (GRCm39) |
Y99H |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,367 (GRCm39) |
R142Q |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,976,129 (GRCm39) |
S10P |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,758 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,596,165 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,342,684 (GRCm39) |
R709Q |
probably damaging |
Het |
| Nek11 |
G |
T |
9: 105,225,207 (GRCm39) |
Q102K |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,113 (GRCm39) |
N1416D |
probably benign |
Het |
| Or13p3 |
A |
C |
4: 118,567,083 (GRCm39) |
T160P |
probably damaging |
Het |
| Or2v1 |
T |
A |
11: 49,025,505 (GRCm39) |
V162E |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,480 (GRCm39) |
I234T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,591 (GRCm39) |
I16T |
possibly damaging |
Het |
| Parp4 |
G |
T |
14: 56,886,073 (GRCm39) |
E1717D |
unknown |
Het |
| Pla2g4d |
A |
T |
2: 120,099,248 (GRCm39) |
|
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,529,354 (GRCm39) |
R41S |
possibly damaging |
Het |
| Psmc2 |
A |
G |
5: 22,001,533 (GRCm39) |
I107V |
probably benign |
Het |
| Rhod |
G |
T |
19: 4,476,121 (GRCm39) |
T210N |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,048,992 (GRCm39) |
D2006V |
probably damaging |
Het |
| Sfpq |
T |
A |
4: 126,919,969 (GRCm39) |
M541K |
possibly damaging |
Het |
| Sorbs1 |
C |
T |
19: 40,349,872 (GRCm39) |
|
probably null |
Het |
| Sv2b |
C |
A |
7: 74,855,842 (GRCm39) |
M149I |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,060,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,880 (GRCm39) |
V188F |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,018 (GRCm39) |
F313S |
probably benign |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,805 (GRCm39) |
F747S |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,661,738 (GRCm39) |
S495P |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,547,838 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
A |
C |
4: 128,479,480 (GRCm39) |
C1004G |
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 |
|
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'- AAGCTTCCCTGGGCTTTTGG -3'
(R):5'- GGGCAAAGATCCCAAAGTGC -3'
Sequencing Primer
(F):5'- CCTGGGCTTTTGGGAGGACC -3'
(R):5'- CCCAGCAAGAACAGAAGAGCTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation