Incidental Mutation 'R8840:Pramel25'
| ID |
674359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel25
|
| Ensembl Gene |
ENSMUSG00000066031 |
| Gene Name |
PRAME like 25 |
| Synonyms |
MGC:91194, Gm13023 |
| MMRRC Submission |
068668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8840 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143521638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 418
(T418K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
| AlphaFold |
A2A8N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085144
AA Change: T418K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: T418K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
G |
A |
5: 53,016,473 (GRCm39) |
D484N |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,152,769 (GRCm39) |
L109F |
probably damaging |
Het |
| Arhgap9 |
A |
G |
10: 127,161,009 (GRCm39) |
T179A |
possibly damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,733,845 (GRCm39) |
I359F |
|
Het |
| Btnl1 |
A |
G |
17: 34,604,577 (GRCm39) |
T453A |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,649,927 (GRCm39) |
I644V |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,567,483 (GRCm39) |
|
probably null |
Het |
| Ccdc8 |
T |
A |
7: 16,728,642 (GRCm39) |
F44I |
probably damaging |
Het |
| Ccz1 |
T |
C |
5: 143,940,982 (GRCm39) |
I191V |
probably damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,286 (GRCm39) |
K31E |
possibly damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,237 (GRCm39) |
D321G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,309,139 (GRCm39) |
N1871D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,634,718 (GRCm39) |
E1211G |
probably damaging |
Het |
| Eppk1 |
T |
A |
15: 75,994,094 (GRCm39) |
D929V |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,819 (GRCm39) |
V246A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,606 (GRCm39) |
I5780V |
probably benign |
Het |
| Gart |
A |
T |
16: 91,433,010 (GRCm39) |
M313K |
probably benign |
Het |
| Gnl1 |
T |
G |
17: 36,293,486 (GRCm39) |
L224V |
probably damaging |
Het |
| Hectd3 |
T |
C |
4: 116,855,604 (GRCm39) |
V368A |
probably benign |
Het |
| Ibsp |
C |
T |
5: 104,458,006 (GRCm39) |
A181V |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,287,716 (GRCm39) |
E421G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,721,016 (GRCm39) |
Y3831N |
unknown |
Het |
| Meltf |
T |
C |
16: 31,716,020 (GRCm39) |
L733P |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,399,379 (GRCm39) |
F898L |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,329 (GRCm39) |
Y133N |
probably damaging |
Het |
| Or8g29-ps1 |
G |
A |
9: 39,201,018 (GRCm39) |
T56I |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,349,842 (GRCm39) |
V229A |
unknown |
Het |
| Primpol |
A |
T |
8: 47,046,731 (GRCm39) |
F188L |
probably damaging |
Het |
| Rbm15 |
A |
G |
3: 107,240,305 (GRCm39) |
V31A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,782,570 (GRCm39) |
D322V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,711 (GRCm39) |
N114S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,177 (GRCm39) |
D412G |
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,893,360 (GRCm39) |
S1314P |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,867,313 (GRCm39) |
D770G |
probably damaging |
Het |
| Skint7 |
T |
C |
4: 111,845,183 (GRCm39) |
F332L |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,365 (GRCm39) |
I34F |
possibly damaging |
Het |
| Suclg2 |
T |
A |
6: 95,546,615 (GRCm39) |
E287V |
probably damaging |
Het |
| Trhr2 |
T |
C |
8: 123,085,621 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,606,371 (GRCm39) |
D18146A |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,057,253 (GRCm39) |
T450I |
probably damaging |
Het |
| Xab2 |
A |
G |
8: 3,663,254 (GRCm39) |
F470L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,691 (GRCm39) |
H912R |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,635 (GRCm39) |
S326T |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably damaging |
Het |
|
| Other mutations in Pramel25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Pramel25
|
APN |
4 |
143,521,844 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02098:Pramel25
|
APN |
4 |
143,520,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02148:Pramel25
|
APN |
4 |
143,519,304 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3087:Pramel25
|
UTSW |
4 |
143,520,416 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5041:Pramel25
|
UTSW |
4 |
143,520,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCCTTGAGCCTCTTGGG -3'
(R):5'- CTGGTCATAAATGTAGCACCCAC -3'
Sequencing Primer
(F):5'- CCTCTTGGGTTTCTCCTTGAGAG -3'
(R):5'- CCACCACATTTAGAGCATTGGGTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation