Incidental Mutation 'R8188:Gm7298'
ID |
634974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm7298
|
Ensembl Gene |
ENSMUSG00000108022 |
Gene Name |
predicted gene 7298 |
Synonyms |
|
MMRRC Submission |
067611-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R8188 (G1)
|
Quality Score |
161.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
121711454-121761598 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 121763537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204124]
[ENSMUST00000204124]
[ENSMUST00000204124]
|
AlphaFold |
A0A0N4SVU1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000204124
|
SMART Domains |
Protein: ENSMUSP00000145242 Gene: ENSMUSG00000108022
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204124
|
SMART Domains |
Protein: ENSMUSP00000145242 Gene: ENSMUSG00000108022
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204124
|
SMART Domains |
Protein: ENSMUSP00000145242 Gene: ENSMUSG00000108022
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: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,625,868 (GRCm39) |
I869F |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
Cyp4a31 |
T |
C |
4: 115,426,943 (GRCm39) |
I182T |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,507,231 (GRCm39) |
L537Q |
probably damaging |
Het |
Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
Styk1 |
C |
A |
6: 131,281,848 (GRCm39) |
V257L |
probably benign |
Het |
Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
Zfp280d |
T |
C |
9: 72,267,615 (GRCm39) |
I766T |
probably benign |
Het |
Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
probably 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 |
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 |
|
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'- CATCAGATTATTTTCAGTTGGGCC -3'
(R):5'- ACACCTCACCTTGGCATGTATAG -3'
Sequencing Primer
(F):5'- GGCCTTTAGTAGAGTAGCATTCAC -3'
(R):5'- CCTCACCTTGGCATGTATAGGAAGG -3'
|
Posted On |
2020-07-13 |