Incidental Mutation 'R6935:Gm7298'
| ID |
540241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7298
|
| Ensembl Gene |
ENSMUSG00000108022 |
| Gene Name |
predicted gene 7298 |
| Synonyms |
|
| MMRRC Submission |
045008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R6935 (G1)
|
| Quality Score |
87.0076 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121711454-121761598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121744653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 557
(R557H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204124]
|
| AlphaFold |
A0A0N4SVU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204124
AA Change: R557H
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: R557H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
128 |
221 |
4e-18 |
PFAM |
|
A2M_N_2
|
449 |
599 |
1e-45 |
SMART |
|
A2M
|
740 |
830 |
2.1e-39 |
SMART |
|
Pfam:Thiol-ester_cl
|
963 |
992 |
1.9e-15 |
PFAM |
|
Pfam:A2M_comp
|
1012 |
1268 |
1.6e-90 |
PFAM |
|
A2M_recep
|
1378 |
1465 |
4.3e-42 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
| Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
| Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
| Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
| Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
| Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
| Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
| Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly damaging |
Het |
|
| Other mutations in Gm7298 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0030:Gm7298
|
UTSW |
6 |
121,751,009 (GRCm39) |
missense |
probably benign |
|
|
R4978:Gm7298
|
UTSW |
6 |
121,710,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4980:Gm7298
|
UTSW |
6 |
121,736,198 (GRCm39) |
splice site |
probably null |
|
|
R6000:Gm7298
|
UTSW |
6 |
121,742,038 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6160:Gm7298
|
UTSW |
6 |
121,741,886 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6180:Gm7298
|
UTSW |
6 |
121,737,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6243:Gm7298
|
UTSW |
6 |
121,756,096 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6266:Gm7298
|
UTSW |
6 |
121,759,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Gm7298
|
UTSW |
6 |
121,756,032 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6363:Gm7298
|
UTSW |
6 |
121,765,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Gm7298
|
UTSW |
6 |
121,756,402 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6527:Gm7298
|
UTSW |
6 |
121,746,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6538:Gm7298
|
UTSW |
6 |
121,753,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6801:Gm7298
|
UTSW |
6 |
121,752,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6884:Gm7298
|
UTSW |
6 |
121,737,480 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7051:Gm7298
|
UTSW |
6 |
121,751,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7144:Gm7298
|
UTSW |
6 |
121,738,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7178:Gm7298
|
UTSW |
6 |
121,762,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7398:Gm7298
|
UTSW |
6 |
121,758,912 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7706:Gm7298
|
UTSW |
6 |
121,712,570 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7793:Gm7298
|
UTSW |
6 |
121,737,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7829:Gm7298
|
UTSW |
6 |
121,742,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Gm7298
|
UTSW |
6 |
121,759,741 (GRCm39) |
nonsense |
probably null |
|
|
R8010:Gm7298
|
UTSW |
6 |
121,712,542 (GRCm39) |
missense |
probably benign |
|
|
R8167:Gm7298
|
UTSW |
6 |
121,761,414 (GRCm39) |
nonsense |
probably null |
|
|
R8188:Gm7298
|
UTSW |
6 |
121,763,537 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8248:Gm7298
|
UTSW |
6 |
121,764,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8669:Gm7298
|
UTSW |
6 |
121,742,002 (GRCm39) |
missense |
probably benign |
|
|
R8806:Gm7298
|
UTSW |
6 |
121,761,641 (GRCm39) |
synonymous |
silent |
|
|
R8867:Gm7298
|
UTSW |
6 |
121,748,788 (GRCm39) |
missense |
probably benign |
|
|
R8907:Gm7298
|
UTSW |
6 |
121,741,817 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8930:Gm7298
|
UTSW |
6 |
121,742,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8932:Gm7298
|
UTSW |
6 |
121,742,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Gm7298
|
UTSW |
6 |
121,757,553 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9016:Gm7298
|
UTSW |
6 |
121,758,800 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9040:Gm7298
|
UTSW |
6 |
121,764,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9069:Gm7298
|
UTSW |
6 |
121,761,393 (GRCm39) |
missense |
probably benign |
|
|
R9154:Gm7298
|
UTSW |
6 |
121,756,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Gm7298
|
UTSW |
6 |
121,756,604 (GRCm39) |
intron |
probably benign |
|
|
R9371:Gm7298
|
UTSW |
6 |
121,744,541 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9372:Gm7298
|
UTSW |
6 |
121,748,746 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9490:Gm7298
|
UTSW |
6 |
121,751,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9649:Gm7298
|
UTSW |
6 |
121,764,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gm7298
|
UTSW |
6 |
121,741,834 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Gm7298
|
UTSW |
6 |
121,741,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
|
| Posted On |
2018-11-06 |
Incidental Mutation