Incidental Mutation 'R7737:BC034090'
| ID |
596299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155212471-155244444 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155241673 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000186156]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186156
AA Change: V233A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: V233A
| 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 |
|
| Meta Mutation Damage Score |
0.0841 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| 9530053A07Rik |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
| Armc4 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm21671 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Olfr345 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramef17 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
probably damaging |
Het |
|
| Other mutations in BC034090 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:BC034090
|
APN |
1 |
155,225,447 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00159:BC034090
|
APN |
1 |
155,225,451 (GRCm38) |
nonsense |
probably null |
|
|
IGL00481:BC034090
|
APN |
1 |
155,232,521 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01309:BC034090
|
APN |
1 |
155,226,384 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01813:BC034090
|
APN |
1 |
155,226,339 (GRCm38) |
nonsense |
probably null |
|
|
IGL01938:BC034090
|
APN |
1 |
155,232,592 (GRCm38) |
splice site |
probably null |
|
|
IGL01982:BC034090
|
APN |
1 |
155,223,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02115:BC034090
|
APN |
1 |
155,232,651 (GRCm38) |
intron |
probably benign |
|
|
IGL02338:BC034090
|
APN |
1 |
155,217,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02406:BC034090
|
APN |
1 |
155,225,153 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03243:BC034090
|
APN |
1 |
155,225,655 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL03290:BC034090
|
APN |
1 |
155,226,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB004:BC034090
|
UTSW |
1 |
155,241,625 (GRCm38) |
nonsense |
probably null |
|
|
BB014:BC034090
|
UTSW |
1 |
155,241,625 (GRCm38) |
nonsense |
probably null |
|
|
R0055:BC034090
|
UTSW |
1 |
155,241,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1436:BC034090
|
UTSW |
1 |
155,225,916 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1649:BC034090
|
UTSW |
1 |
155,225,573 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1710:BC034090
|
UTSW |
1 |
155,225,864 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1819:BC034090
|
UTSW |
1 |
155,225,829 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1969:BC034090
|
UTSW |
1 |
155,225,226 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1996:BC034090
|
UTSW |
1 |
155,221,594 (GRCm38) |
unclassified |
probably benign |
|
|
R2012:BC034090
|
UTSW |
1 |
155,221,432 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2133:BC034090
|
UTSW |
1 |
155,225,786 (GRCm38) |
missense |
probably benign |
0.27 |
|
R3426:BC034090
|
UTSW |
1 |
155,241,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3427:BC034090
|
UTSW |
1 |
155,241,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3428:BC034090
|
UTSW |
1 |
155,241,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3782:BC034090
|
UTSW |
1 |
155,226,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3792:BC034090
|
UTSW |
1 |
155,241,797 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4234:BC034090
|
UTSW |
1 |
155,241,580 (GRCm38) |
missense |
probably benign |
|
|
R4373:BC034090
|
UTSW |
1 |
155,226,158 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4377:BC034090
|
UTSW |
1 |
155,232,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4661:BC034090
|
UTSW |
1 |
155,232,475 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4676:BC034090
|
UTSW |
1 |
155,226,264 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4729:BC034090
|
UTSW |
1 |
155,225,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5170:BC034090
|
UTSW |
1 |
155,213,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5340:BC034090
|
UTSW |
1 |
155,226,414 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5382:BC034090
|
UTSW |
1 |
155,225,603 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5384:BC034090
|
UTSW |
1 |
155,242,027 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5576:BC034090
|
UTSW |
1 |
155,241,468 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5891:BC034090
|
UTSW |
1 |
155,233,047 (GRCm38) |
unclassified |
probably benign |
|
|
R6060:BC034090
|
UTSW |
1 |
155,241,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6092:BC034090
|
UTSW |
1 |
155,224,913 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6662:BC034090
|
UTSW |
1 |
155,226,339 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6736:BC034090
|
UTSW |
1 |
155,241,930 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6903:BC034090
|
UTSW |
1 |
155,221,385 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6970:BC034090
|
UTSW |
1 |
155,241,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7144:BC034090
|
UTSW |
1 |
155,242,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7201:BC034090
|
UTSW |
1 |
155,241,934 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7265:BC034090
|
UTSW |
1 |
155,225,327 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7380:BC034090
|
UTSW |
1 |
155,232,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7436:BC034090
|
UTSW |
1 |
155,226,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7569:BC034090
|
UTSW |
1 |
155,217,405 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7587:BC034090
|
UTSW |
1 |
155,217,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7664:BC034090
|
UTSW |
1 |
155,241,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7782:BC034090
|
UTSW |
1 |
155,232,664 (GRCm38) |
intron |
probably benign |
|
|
R7927:BC034090
|
UTSW |
1 |
155,241,625 (GRCm38) |
nonsense |
probably null |
|
|
R8079:BC034090
|
UTSW |
1 |
155,225,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8204:BC034090
|
UTSW |
1 |
155,241,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8558:BC034090
|
UTSW |
1 |
155,221,339 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8832:BC034090
|
UTSW |
1 |
155,226,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8858:BC034090
|
UTSW |
1 |
155,226,218 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8879:BC034090
|
UTSW |
1 |
155,226,357 (GRCm38) |
missense |
probably benign |
|
|
R9004:BC034090
|
UTSW |
1 |
155,226,392 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9036:BC034090
|
UTSW |
1 |
155,241,673 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9141:BC034090
|
UTSW |
1 |
155,232,728 (GRCm38) |
intron |
probably benign |
|
|
R9293:BC034090
|
UTSW |
1 |
155,225,772 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9348:BC034090
|
UTSW |
1 |
155,223,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9440:BC034090
|
UTSW |
1 |
155,226,215 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9477:BC034090
|
UTSW |
1 |
155,226,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9608:BC034090
|
UTSW |
1 |
155,223,389 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9700:BC034090
|
UTSW |
1 |
155,226,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9787:BC034090
|
UTSW |
1 |
155,242,209 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
X0002:BC034090
|
UTSW |
1 |
155,226,279 (GRCm38) |
nonsense |
probably null |
|
|
Z1187:BC034090
|
UTSW |
1 |
155,241,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:BC034090
|
UTSW |
1 |
155,241,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1190:BC034090
|
UTSW |
1 |
155,241,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1192:BC034090
|
UTSW |
1 |
155,241,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTGTCTGGAAACCTTCAG -3'
(R):5'- AATGAACAAAGCCCGTGGTC -3'
Sequencing Primer
(F):5'- TGGAAACCTTCAGTATCTCCTGCAAC -3'
(R):5'- AAAGCCCGTGGTCTCCAGAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation