Incidental Mutation 'R9419:Gm5114'
ID |
712226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5114
|
Ensembl Gene |
ENSMUSG00000053742 |
Gene Name |
predicted gene 5114 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R9419 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
39056718-39062584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39057540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 693
(H693R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
AlphaFold |
W4VSN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108017
AA Change: H693R
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103652 Gene: ENSMUSG00000053742 AA Change: H693R
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% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
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 |
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 |
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'- GAGATGAAGCTCTGTAGGGTAC -3'
(R):5'- CAAAAGCCCAGGGAAGCTTC -3'
Sequencing Primer
(F):5'- TGTAGGGTACAGGCCTCGAG -3'
(R):5'- CCCAGGGAAGCTTCAGAGAGC -3'
|
Posted On |
2022-05-16 |