Incidental Mutation 'R9477:BC034090'
| ID |
715834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155102087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 59
(G59E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
[ENSMUST00000187096]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035914
AA Change: G59E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: G59E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:DUF4685
|
44 |
168 |
6.6e-57 |
PFAM |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
652 |
N/A |
INTRINSIC |
|
PDZ
|
830 |
905 |
4.8e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186156
AA Change: G421E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: G421E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
446 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
PDZ
|
1123 |
1198 |
2.2e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187096
AA Change: G59E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: G59E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
T |
1: 89,765,485 (GRCm39) |
M618L |
probably benign |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,282 (GRCm39) |
I89N |
probably damaging |
Het |
| App |
C |
A |
16: 84,853,392 (GRCm39) |
A229S |
unknown |
Het |
| B020011L13Rik |
G |
T |
1: 117,728,903 (GRCm39) |
E137* |
probably null |
Het |
| C1ra |
A |
G |
6: 124,499,455 (GRCm39) |
D547G |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,755,212 (GRCm39) |
D774E |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,201 (GRCm39) |
N1104D |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,720,743 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
T |
8: 105,560,556 (GRCm39) |
N124Y |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,985,032 (GRCm39) |
T959A |
probably benign |
Het |
| Chaf1a |
A |
T |
17: 56,369,244 (GRCm39) |
K492* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,620 (GRCm39) |
V334A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,706,621 (GRCm39) |
I2771T |
unknown |
Het |
| Creb3 |
T |
C |
4: 43,566,298 (GRCm39) |
L244P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,816,956 (GRCm39) |
V171A |
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,446,182 (GRCm39) |
Y613H |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,819 (GRCm39) |
V416I |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,976,868 (GRCm39) |
V272A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 99,936,784 (GRCm39) |
S32P |
probably damaging |
Het |
| Dpp10 |
G |
T |
1: 123,304,370 (GRCm39) |
T510K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,205,292 (GRCm39) |
Y820C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,836,698 (GRCm39) |
H3562L |
unknown |
Het |
| Fam3c |
A |
T |
6: 22,308,479 (GRCm39) |
M238K |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,265 (GRCm39) |
F1263L |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,159,803 (GRCm39) |
C484S |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,295,720 (GRCm39) |
L97P |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,431,682 (GRCm39) |
I310V |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,314 (GRCm39) |
N23I |
probably benign |
Het |
| Gpr21 |
T |
A |
2: 37,408,386 (GRCm39) |
F311I |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,405 (GRCm39) |
E741G |
probably benign |
Het |
| Gsto2 |
G |
A |
19: 47,864,911 (GRCm39) |
R148H |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,368,813 (GRCm39) |
V27A |
probably benign |
Het |
| Hbp1 |
A |
G |
12: 31,980,766 (GRCm39) |
C446R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,286,031 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
G |
A |
1: 173,854,155 (GRCm39) |
T166I |
probably benign |
Het |
| Il23a |
T |
A |
10: 128,133,922 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,936,409 (GRCm39) |
C362S |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 66,993,734 (GRCm39) |
R72* |
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,716,361 (GRCm39) |
I176T |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,638,779 (GRCm39) |
K1517E |
probably benign |
Het |
| Mbnl1 |
A |
G |
3: 60,520,769 (GRCm39) |
D119G |
probably damaging |
Het |
| Mfsd8 |
A |
G |
3: 40,785,057 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
G |
5: 148,014,740 (GRCm39) |
V511G |
probably benign |
Het |
| Myot |
A |
C |
18: 44,470,333 (GRCm39) |
Q103H |
probably benign |
Het |
| Nrip2 |
G |
A |
6: 128,377,145 (GRCm39) |
D24N |
probably benign |
Het |
| Ntm |
T |
A |
9: 29,322,922 (GRCm39) |
S33C |
probably benign |
Het |
| Nus1 |
C |
T |
10: 52,294,001 (GRCm39) |
T55M |
possibly damaging |
Het |
| Or4c112 |
G |
A |
2: 88,853,615 (GRCm39) |
T244I |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,922,973 (GRCm39) |
|
probably null |
Het |
| Pogk |
T |
C |
1: 166,227,404 (GRCm39) |
N249S |
probably damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,320,503 (GRCm39) |
T66I |
possibly damaging |
Het |
| Ppp1r42 |
T |
G |
1: 10,055,854 (GRCm39) |
K211N |
probably damaging |
Het |
| Ppp2r3d |
C |
A |
9: 124,476,857 (GRCm38) |
D2Y |
|
Het |
| Prdm5 |
A |
T |
6: 65,771,342 (GRCm39) |
N51I |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 52,001,342 (GRCm39) |
A1599T |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,921,981 (GRCm39) |
A520T |
|
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spice1 |
T |
A |
16: 44,197,183 (GRCm39) |
N489K |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,132,624 (GRCm39) |
M116T |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,025,500 (GRCm39) |
N249Y |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,410,706 (GRCm39) |
|
probably null |
Het |
| Trhde |
T |
A |
10: 114,338,980 (GRCm39) |
E610V |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,745,471 (GRCm39) |
S290P |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,747,224 (GRCm39) |
V1425M |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,108 (GRCm39) |
S832P |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,128 (GRCm39) |
D1472V |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,261 (GRCm39) |
V53G |
possibly damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,168,910 (GRCm39) |
I740N |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,218,244 (GRCm39) |
C18Y |
possibly damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,188 (GRCm39) |
I177M |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,428 (GRCm39) |
I895T |
probably benign |
Het |
| Zfp58 |
C |
A |
13: 67,640,158 (GRCm39) |
C111F |
probably damaging |
Het |
|
| Other mutations in BC034090 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:BC034090
|
APN |
1 |
155,101,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00159:BC034090
|
APN |
1 |
155,101,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL00481:BC034090
|
APN |
1 |
155,108,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01309:BC034090
|
APN |
1 |
155,102,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01813:BC034090
|
APN |
1 |
155,102,085 (GRCm39) |
nonsense |
probably null |
|
|
IGL01938:BC034090
|
APN |
1 |
155,108,338 (GRCm39) |
splice site |
probably null |
|
|
IGL01982:BC034090
|
APN |
1 |
155,099,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:BC034090
|
APN |
1 |
155,108,397 (GRCm39) |
intron |
probably benign |
|
|
IGL02338:BC034090
|
APN |
1 |
155,093,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:BC034090
|
APN |
1 |
155,100,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03243:BC034090
|
APN |
1 |
155,101,401 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03290:BC034090
|
APN |
1 |
155,101,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
BB014:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R0055:BC034090
|
UTSW |
1 |
155,117,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:BC034090
|
UTSW |
1 |
155,101,662 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1649:BC034090
|
UTSW |
1 |
155,101,319 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1710:BC034090
|
UTSW |
1 |
155,101,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1819:BC034090
|
UTSW |
1 |
155,101,575 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1969:BC034090
|
UTSW |
1 |
155,100,972 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1996:BC034090
|
UTSW |
1 |
155,097,340 (GRCm39) |
unclassified |
probably benign |
|
|
R2012:BC034090
|
UTSW |
1 |
155,097,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2133:BC034090
|
UTSW |
1 |
155,101,532 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3426:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3427:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3428:BC034090
|
UTSW |
1 |
155,117,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3782:BC034090
|
UTSW |
1 |
155,102,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:BC034090
|
UTSW |
1 |
155,117,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4234:BC034090
|
UTSW |
1 |
155,117,326 (GRCm39) |
missense |
probably benign |
|
|
R4373:BC034090
|
UTSW |
1 |
155,101,904 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4377:BC034090
|
UTSW |
1 |
155,108,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:BC034090
|
UTSW |
1 |
155,108,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4676:BC034090
|
UTSW |
1 |
155,102,010 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4729:BC034090
|
UTSW |
1 |
155,100,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:BC034090
|
UTSW |
1 |
155,089,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:BC034090
|
UTSW |
1 |
155,102,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5382:BC034090
|
UTSW |
1 |
155,101,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5384:BC034090
|
UTSW |
1 |
155,117,773 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5576:BC034090
|
UTSW |
1 |
155,117,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:BC034090
|
UTSW |
1 |
155,108,793 (GRCm39) |
unclassified |
probably benign |
|
|
R6060:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6092:BC034090
|
UTSW |
1 |
155,100,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6662:BC034090
|
UTSW |
1 |
155,102,085 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6736:BC034090
|
UTSW |
1 |
155,117,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6903:BC034090
|
UTSW |
1 |
155,097,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6970:BC034090
|
UTSW |
1 |
155,117,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:BC034090
|
UTSW |
1 |
155,117,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:BC034090
|
UTSW |
1 |
155,117,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7265:BC034090
|
UTSW |
1 |
155,101,073 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7380:BC034090
|
UTSW |
1 |
155,108,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:BC034090
|
UTSW |
1 |
155,102,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:BC034090
|
UTSW |
1 |
155,093,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7587:BC034090
|
UTSW |
1 |
155,093,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:BC034090
|
UTSW |
1 |
155,117,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7782:BC034090
|
UTSW |
1 |
155,108,410 (GRCm39) |
intron |
probably benign |
|
|
R7927:BC034090
|
UTSW |
1 |
155,117,371 (GRCm39) |
nonsense |
probably null |
|
|
R8079:BC034090
|
UTSW |
1 |
155,101,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:BC034090
|
UTSW |
1 |
155,117,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:BC034090
|
UTSW |
1 |
155,097,085 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8832:BC034090
|
UTSW |
1 |
155,102,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:BC034090
|
UTSW |
1 |
155,101,964 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8879:BC034090
|
UTSW |
1 |
155,102,103 (GRCm39) |
missense |
probably benign |
|
|
R9004:BC034090
|
UTSW |
1 |
155,102,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9036:BC034090
|
UTSW |
1 |
155,117,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9141:BC034090
|
UTSW |
1 |
155,108,474 (GRCm39) |
intron |
probably benign |
|
|
R9293:BC034090
|
UTSW |
1 |
155,101,518 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9348:BC034090
|
UTSW |
1 |
155,099,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:BC034090
|
UTSW |
1 |
155,101,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9608:BC034090
|
UTSW |
1 |
155,099,135 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9700:BC034090
|
UTSW |
1 |
155,101,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:BC034090
|
UTSW |
1 |
155,117,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0002:BC034090
|
UTSW |
1 |
155,102,025 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:BC034090
|
UTSW |
1 |
155,117,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTACTCTGGTCCAGGCAG -3'
(R):5'- AGGGCACACTGGTTATCCTCTC -3'
Sequencing Primer
(F):5'- ATGAGCTATTCCCTACAATGCGG -3'
(R):5'- CCACCTCCCTGCATGTGAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation