Incidental Mutation 'IGL01777:Vrtn'
ID |
154115 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vrtn
|
Ensembl Gene |
ENSMUSG00000071235 |
Gene Name |
vertebrae development associated |
Synonyms |
7420416P09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL01777
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84687793-84698229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84695696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 149
(S149A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095551]
[ENSMUST00000166772]
[ENSMUST00000167227]
[ENSMUST00000221915]
[ENSMUST00000222319]
|
AlphaFold |
Q3SYK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095551
AA Change: S149A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000093207 Gene: ENSMUSG00000071235 AA Change: S149A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
internal_repeat_1
|
312 |
354 |
6.24e-8 |
PROSPERO |
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
low complexity region
|
514 |
524 |
N/A |
INTRINSIC |
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
internal_repeat_1
|
687 |
731 |
6.24e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166772
AA Change: S149A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128808 Gene: ENSMUSG00000071235 AA Change: S149A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
internal_repeat_1
|
312 |
354 |
6.24e-8 |
PROSPERO |
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
low complexity region
|
514 |
524 |
N/A |
INTRINSIC |
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
internal_repeat_1
|
687 |
731 |
6.24e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167227
AA Change: S149A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132050 Gene: ENSMUSG00000071235 AA Change: S149A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
internal_repeat_1
|
312 |
354 |
6.24e-8 |
PROSPERO |
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
low complexity region
|
514 |
524 |
N/A |
INTRINSIC |
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
internal_repeat_1
|
687 |
731 |
6.24e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222319
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
|
Other mutations in Vrtn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Vrtn
|
APN |
12 |
84,695,837 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01911:Vrtn
|
APN |
12 |
84,696,980 (GRCm39) |
missense |
probably benign |
|
IGL02219:Vrtn
|
APN |
12 |
84,695,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02684:Vrtn
|
APN |
12 |
84,696,923 (GRCm39) |
missense |
probably benign |
|
IGL02947:Vrtn
|
APN |
12 |
84,695,258 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03296:Vrtn
|
APN |
12 |
84,695,622 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Vrtn
|
UTSW |
12 |
84,695,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R0044:Vrtn
|
UTSW |
12 |
84,695,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Vrtn
|
UTSW |
12 |
84,695,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Vrtn
|
UTSW |
12 |
84,696,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R1693:Vrtn
|
UTSW |
12 |
84,695,429 (GRCm39) |
missense |
probably benign |
0.03 |
R1773:Vrtn
|
UTSW |
12 |
84,696,998 (GRCm39) |
missense |
probably damaging |
0.98 |
R1951:Vrtn
|
UTSW |
12 |
84,695,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Vrtn
|
UTSW |
12 |
84,696,936 (GRCm39) |
missense |
probably benign |
0.00 |
R4044:Vrtn
|
UTSW |
12 |
84,695,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Vrtn
|
UTSW |
12 |
84,695,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R4835:Vrtn
|
UTSW |
12 |
84,696,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R5076:Vrtn
|
UTSW |
12 |
84,696,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Vrtn
|
UTSW |
12 |
84,697,251 (GRCm39) |
missense |
probably benign |
0.31 |
R5831:Vrtn
|
UTSW |
12 |
84,695,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Vrtn
|
UTSW |
12 |
84,695,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R6499:Vrtn
|
UTSW |
12 |
84,697,090 (GRCm39) |
missense |
probably benign |
0.01 |
R6931:Vrtn
|
UTSW |
12 |
84,697,016 (GRCm39) |
missense |
probably benign |
|
R7192:Vrtn
|
UTSW |
12 |
84,695,636 (GRCm39) |
missense |
probably damaging |
0.98 |
R7789:Vrtn
|
UTSW |
12 |
84,697,080 (GRCm39) |
missense |
probably benign |
|
R8059:Vrtn
|
UTSW |
12 |
84,696,690 (GRCm39) |
missense |
probably benign |
|
R8095:Vrtn
|
UTSW |
12 |
84,696,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R8096:Vrtn
|
UTSW |
12 |
84,696,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R8136:Vrtn
|
UTSW |
12 |
84,696,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R8142:Vrtn
|
UTSW |
12 |
84,697,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R8557:Vrtn
|
UTSW |
12 |
84,696,690 (GRCm39) |
missense |
probably benign |
|
R9165:Vrtn
|
UTSW |
12 |
84,697,251 (GRCm39) |
missense |
probably benign |
0.31 |
|
Posted On |
2014-02-04 |