Incidental Mutation 'R8136:Vrtn'
| ID |
632267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vrtn
|
| Ensembl Gene |
ENSMUSG00000071235 |
| Gene Name |
vertebrae development associated |
| Synonyms |
7420416P09Rik |
| MMRRC Submission |
067564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R8136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84687793-84698229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84696809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 520
(R520C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095551]
[ENSMUST00000166772]
[ENSMUST00000167227]
[ENSMUST00000221915]
[ENSMUST00000222319]
|
| AlphaFold |
Q3SYK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095551
AA Change: R520C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: R520C
| 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: R520C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: R520C
| 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: R520C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: R520C
| 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
|
| Meta Mutation Damage Score |
0.1050 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
| Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
| Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
| Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
| Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
| Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
| Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
| Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
| Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
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 |
|
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 |
|
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'- TTTGAAACTGCTGAGTCTCTCC -3'
(R):5'- GTGGTTCAACTGGCTTCTGC -3'
Sequencing Primer
(F):5'- TGAGTCTCTCCAGCCAACAGATG -3'
(R):5'- GGGCTTCTGCTGTTCCTCG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation