Incidental Mutation 'R6884:Gm7298'
| ID |
536839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7298
|
| Ensembl Gene |
ENSMUSG00000108022 |
| Gene Name |
predicted gene 7298 |
| Synonyms |
|
| MMRRC Submission |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121711454-121761598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121737480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 295
(I295F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204124]
|
| AlphaFold |
A0A0N4SVU1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204124
AA Change: I295F
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: I295F
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
probably benign |
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 |
|
R6935:Gm7298
|
UTSW |
6 |
121,744,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
PCR Primer
(F):5'- CAATACTGTGACTGGACACGAC -3'
(R):5'- GAGAGTTGCTTAATTTCTGCATCC -3'
Sequencing Primer
(F):5'- TGTGACTGGACACGACCATGG -3'
(R):5'- GCATCCTTTTAACCACCATCTCTATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation