Incidental Mutation 'IGL02684:Vrtn'
ID |
303478 |
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: 0.138)
|
Stock # |
IGL02684
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84687793-84698229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84696923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 558
(R558G)
|
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: R558G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093207 Gene: ENSMUSG00000071235 AA Change: R558G
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: R558G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128808 Gene: ENSMUSG00000071235 AA Change: R558G
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: R558G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132050 Gene: ENSMUSG00000071235 AA Change: R558G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
Actrt3 |
A |
T |
3: 30,653,840 (GRCm39) |
D53E |
probably benign |
Het |
Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
Blk |
T |
C |
14: 63,617,143 (GRCm39) |
E288G |
probably benign |
Het |
Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
Gdap2 |
A |
G |
3: 100,078,336 (GRCm39) |
D100G |
probably benign |
Het |
Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
Ints7 |
A |
G |
1: 191,345,749 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
Pm20d1 |
T |
A |
1: 131,732,697 (GRCm39) |
N345K |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
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 |
IGL01777:Vrtn
|
APN |
12 |
84,695,696 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01911:Vrtn
|
APN |
12 |
84,696,980 (GRCm39) |
missense |
probably benign |
|
IGL02219:Vrtn
|
APN |
12 |
84,695,607 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |