Incidental Mutation 'R6499:Vrtn'
| ID |
519640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vrtn
|
| Ensembl Gene |
ENSMUSG00000071235 |
| Gene Name |
vertebrae development associated |
| Synonyms |
7420416P09Rik |
| MMRRC Submission |
044631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84687793-84698229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84697090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 613
(D613E)
|
| 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: D613E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: D613E
| 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: D613E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: D613E
| 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: D613E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: D613E
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
| Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
| Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
| Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
| Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
| Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
| Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
| Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
| Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
| Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
| Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
| Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
| Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
| Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
| Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
| Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
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 |
|
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 |
|
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'- AAAAGTCTTTCCCGGAGATCG -3'
(R):5'- TGGTAAGCATGTCCATCACCAG -3'
Sequencing Primer
(F):5'- ATCGCCCGGGATGCAGATTC -3'
(R):5'- TGTCCATCACCAGCACCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation