Incidental Mutation 'R7587:BC034090'
| ID |
587184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC034090
|
| Ensembl Gene |
ENSMUSG00000033722 |
| Gene Name |
cDNA sequence BC034090 |
| Synonyms |
|
| MMRRC Submission |
045712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155088217-155120190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155093232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 742
(V742A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035914]
[ENSMUST00000186156]
|
| AlphaFold |
A0A087WP46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035914
AA Change: V742A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: V742A
| 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: V1104A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: V1104A
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,585,736 (GRCm39) |
T131A |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,827,578 (GRCm39) |
V15D |
probably benign |
Het |
| Asic1 |
A |
C |
15: 99,593,471 (GRCm39) |
Q276P |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,172,496 (GRCm39) |
V158E |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,822,034 (GRCm39) |
I909N |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,869,004 (GRCm39) |
F165S |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,469 (GRCm39) |
E59G |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,768,515 (GRCm39) |
V10I |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,976 (GRCm39) |
S855C |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,859 (GRCm39) |
I361V |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,822 (GRCm39) |
I1874V |
probably benign |
Het |
| Dennd2a |
T |
G |
6: 39,460,069 (GRCm39) |
K679Q |
probably damaging |
Het |
| Dio2 |
A |
G |
12: 90,696,334 (GRCm39) |
V218A |
probably benign |
Het |
| Gpr107 |
A |
T |
2: 31,058,838 (GRCm39) |
K109N |
probably benign |
Het |
| Gpr108 |
C |
T |
17: 57,543,732 (GRCm39) |
R448Q |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,288 (GRCm39) |
V932A |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,065 (GRCm39) |
T181A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,930,080 (GRCm39) |
|
probably null |
Het |
| Lipc |
A |
G |
9: 70,726,206 (GRCm39) |
Y168H |
probably damaging |
Het |
| Lipi |
C |
T |
16: 75,347,103 (GRCm39) |
V439M |
probably benign |
Het |
| Lpp |
A |
T |
16: 24,581,029 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 40,620,729 (GRCm39) |
D3583A |
|
Het |
| Ltbr |
T |
C |
6: 125,289,315 (GRCm39) |
T165A |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,736 (GRCm39) |
I527T |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,742,887 (GRCm39) |
E1133G |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,957,591 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,534,592 (GRCm39) |
T306M |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,966,510 (GRCm39) |
H207R |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,044,636 (GRCm39) |
Q110R |
probably benign |
Het |
| Or1e1b-ps1 |
C |
T |
11: 73,846,010 (GRCm39) |
Q165* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,263 (GRCm39) |
R236H |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,818 (GRCm39) |
V258E |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,678,701 (GRCm39) |
D905G |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,668,965 (GRCm39) |
L195S |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,475 (GRCm39) |
S355P |
probably benign |
Het |
| Pop1 |
A |
T |
15: 34,502,559 (GRCm39) |
K82M |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,766 (GRCm39) |
D655E |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
A |
G |
5: 95,669,270 (GRCm39) |
T100A |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,574,616 (GRCm39) |
M1K |
probably null |
Het |
| Rffl |
T |
C |
11: 82,700,974 (GRCm39) |
D284G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,340,942 (GRCm39) |
D110G |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,867,683 (GRCm39) |
I457K |
possibly damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,541 (GRCm39) |
M71V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,069,822 (GRCm39) |
S989N |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,305 (GRCm39) |
I356F |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,618,849 (GRCm39) |
K2251E |
possibly damaging |
Het |
| Tbce |
C |
T |
13: 14,194,327 (GRCm39) |
V111M |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,155 (GRCm39) |
L92P |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,713,778 (GRCm39) |
D735E |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,771 (GRCm39) |
H110R |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Unc5b |
C |
T |
10: 60,618,899 (GRCm39) |
C81Y |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,681,153 (GRCm39) |
T1041M |
probably benign |
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 |
|
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 |
|
R9477:BC034090
|
UTSW |
1 |
155,102,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCTCCATTGCTCAACCAAAGC -3'
(R):5'- AGCTCATTTTGCTGGCTGAG -3'
Sequencing Primer
(F):5'- TTGCTCAACCAAAGCCCCAAAG -3'
(R):5'- TCCTGTCAGAAAGGTTCCTACATCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation