Incidental Mutation 'R9201:Pramel34'
| ID |
698220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel34
|
| Ensembl Gene |
ENSMUSG00000070686 |
| Gene Name |
PRAME like 34 |
| Synonyms |
C87414 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9201 (G1)
|
| Quality Score |
108.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
93783041-93819368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93785937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 114
(N114K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076321]
[ENSMUST00000159578]
[ENSMUST00000160382]
[ENSMUST00000162964]
|
| AlphaFold |
E9PWI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076321
|
| SMART Domains |
Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
67 |
191 |
1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159578
AA Change: N114K
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160382
AA Change: N114K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162964
AA Change: N114K
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: N114K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
199 |
388 |
1e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,916,688 (GRCm39) |
W280L |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
| Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,138,000 (GRCm39) |
D88G |
probably benign |
Het |
| Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
| Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
| Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
A |
G |
9: 106,762,218 (GRCm39) |
S138P |
unknown |
Het |
| Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
| Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
| Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,719,821 (GRCm39) |
I394T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
probably benign |
Het |
|
| Other mutations in Pramel34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Pramel34
|
APN |
5 |
93,784,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Pramel34
|
APN |
5 |
93,784,154 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02735:Pramel34
|
APN |
5 |
93,786,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4466001:Pramel34
|
UTSW |
5 |
93,784,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Pramel34
|
UTSW |
5 |
93,785,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2071:Pramel34
|
UTSW |
5 |
93,784,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4404:Pramel34
|
UTSW |
5 |
93,785,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4606:Pramel34
|
UTSW |
5 |
93,784,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4672:Pramel34
|
UTSW |
5 |
93,784,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5056:Pramel34
|
UTSW |
5 |
93,786,784 (GRCm39) |
start gained |
probably benign |
|
|
R5118:Pramel34
|
UTSW |
5 |
93,785,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5288:Pramel34
|
UTSW |
5 |
93,785,607 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5441:Pramel34
|
UTSW |
5 |
93,784,456 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6190:Pramel34
|
UTSW |
5 |
93,785,937 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6513:Pramel34
|
UTSW |
5 |
93,785,391 (GRCm39) |
splice site |
probably null |
|
|
R7464:Pramel34
|
UTSW |
5 |
93,784,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Pramel34
|
UTSW |
5 |
93,785,887 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7961:Pramel34
|
UTSW |
5 |
93,784,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Pramel34
|
UTSW |
5 |
93,784,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Pramel34
|
UTSW |
5 |
93,785,587 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8725:Pramel34
|
UTSW |
5 |
93,784,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Pramel34
|
UTSW |
5 |
93,785,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8812:Pramel34
|
UTSW |
5 |
93,785,660 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8849:Pramel34
|
UTSW |
5 |
93,784,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8930:Pramel34
|
UTSW |
5 |
93,785,944 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8932:Pramel34
|
UTSW |
5 |
93,785,944 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8976:Pramel34
|
UTSW |
5 |
93,785,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9229:Pramel34
|
UTSW |
5 |
93,784,089 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Pramel34
|
UTSW |
5 |
93,785,969 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9347:Pramel34
|
UTSW |
5 |
93,786,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9536:Pramel34
|
UTSW |
5 |
93,784,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Pramel34
|
UTSW |
5 |
93,784,562 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCCTATTCTCTGCTTGGC -3'
(R):5'- TCAGTGTAATGAAGCCCAGG -3'
Sequencing Primer
(F):5'- GCTTGGCCCAATTCAAGAAATATGC -3'
(R):5'- GTAGCATACCTGAGTCCACCTTGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation