Incidental Mutation 'R5831:Vrtn'
| ID |
449326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vrtn
|
| Ensembl Gene |
ENSMUSG00000071235 |
| Gene Name |
vertebrae development associated |
| Synonyms |
7420416P09Rik |
| MMRRC Submission |
043220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84687793-84698229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84695349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 33
(E33V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095551]
[ENSMUST00000166772]
[ENSMUST00000167227]
[ENSMUST00000221915]
[ENSMUST00000222319]
|
| AlphaFold |
Q3SYK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095551
AA Change: E33V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: E33V
| 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 damaging
Transcript: ENSMUST00000166772
AA Change: E33V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: E33V
| 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 damaging
Transcript: ENSMUST00000167227
AA Change: E33V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: E33V
| 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 |
possibly damaging
Transcript: ENSMUST00000221915
AA Change: E33V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222319
AA Change: E33V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,517,777 (GRCm39) |
K4460* |
probably null |
Het |
| Adam21 |
A |
G |
12: 81,605,875 (GRCm39) |
V629A |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,006 (GRCm39) |
V653I |
probably damaging |
Het |
| Adarb2 |
G |
A |
13: 8,609,169 (GRCm39) |
A44T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,132,808 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,024 (GRCm39) |
Y833C |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,820,636 (GRCm39) |
S1297P |
probably damaging |
Het |
| Cdc25b |
G |
T |
2: 131,029,301 (GRCm39) |
|
probably null |
Het |
| Ciart |
A |
T |
3: 95,786,214 (GRCm39) |
V287D |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,213,650 (GRCm39) |
F353S |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,119,592 (GRCm39) |
E1717K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,421,611 (GRCm39) |
K82R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,998,947 (GRCm39) |
T1034S |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,714,332 (GRCm39) |
E1837G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,900,019 (GRCm39) |
S110T |
possibly damaging |
Het |
| Flg2 |
G |
A |
3: 93,107,541 (GRCm39) |
V9I |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,988,918 (GRCm39) |
T602S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,440,117 (GRCm39) |
E1015G |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,232,763 (GRCm39) |
F201L |
probably damaging |
Het |
| Isoc2b |
C |
A |
7: 4,854,023 (GRCm39) |
L116F |
probably null |
Het |
| Loxl3 |
A |
T |
6: 83,025,999 (GRCm39) |
T416S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,746,798 (GRCm39) |
*960W |
probably null |
Het |
| Morn1 |
A |
G |
4: 155,185,733 (GRCm39) |
H183R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,523 (GRCm39) |
N918I |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,679,540 (GRCm39) |
V763A |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,439 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
G |
A |
2: 88,356,824 (GRCm39) |
W299* |
probably null |
Het |
| Papola |
A |
G |
12: 105,789,859 (GRCm39) |
K482E |
probably benign |
Het |
| Pck1 |
C |
T |
2: 172,998,792 (GRCm39) |
T350I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,405,727 (GRCm39) |
A51T |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,208 (GRCm39) |
H133R |
probably benign |
Het |
| Rpl36-ps4 |
T |
C |
17: 88,228,685 (GRCm39) |
V73A |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,314,962 (GRCm39) |
P1240L |
probably benign |
Het |
| Selenom |
G |
T |
11: 3,466,882 (GRCm39) |
E81* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,081,081 (GRCm39) |
M1V |
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,615,685 (GRCm39) |
S231P |
possibly damaging |
Het |
| Trappc10 |
C |
T |
10: 78,045,260 (GRCm39) |
R476Q |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,091,386 (GRCm39) |
D200E |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,272,922 (GRCm39) |
D579N |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTTGAGAACTGCTGC -3'
(R):5'- CTGCAGATAATAGTGCCTGTGC -3'
Sequencing Primer
(F):5'- AGAACTGCTGCTGCTGG -3'
(R):5'- AACAACAGGCTGGTCGCTTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation