Incidental Mutation 'R9202:Pramel11'
| ID |
698269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel11
|
| Ensembl Gene |
ENSMUSG00000078512 |
| Gene Name |
PRAME like 11 |
| Synonyms |
Gm13099, Pramef6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143623646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 176
(N176I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
| AlphaFold |
A2A8M8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081645
AA Change: N176I
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: N176I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: N176I
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: N176I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
| Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
probably damaging |
Het |
|
| Other mutations in Pramel11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Pramel11
|
APN |
4 |
143,622,201 (GRCm39) |
missense |
probably benign |
|
|
IGL01917:Pramel11
|
APN |
4 |
143,624,284 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02222:Pramel11
|
APN |
4 |
143,622,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02315:Pramel11
|
APN |
4 |
143,624,498 (GRCm39) |
start gained |
probably benign |
|
|
R0488:Pramel11
|
UTSW |
4 |
143,621,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Pramel11
|
UTSW |
4 |
143,624,299 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0972:Pramel11
|
UTSW |
4 |
143,623,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1444:Pramel11
|
UTSW |
4 |
143,623,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1551:Pramel11
|
UTSW |
4 |
143,622,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Pramel11
|
UTSW |
4 |
143,622,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2068:Pramel11
|
UTSW |
4 |
143,623,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Pramel11
|
UTSW |
4 |
143,623,760 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2246:Pramel11
|
UTSW |
4 |
143,623,790 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4483:Pramel11
|
UTSW |
4 |
143,622,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Pramel11
|
UTSW |
4 |
143,623,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Pramel11
|
UTSW |
4 |
143,622,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Pramel11
|
UTSW |
4 |
143,622,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5683:Pramel11
|
UTSW |
4 |
143,622,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5837:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5838:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5853:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6340:Pramel11
|
UTSW |
4 |
143,623,877 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6572:Pramel11
|
UTSW |
4 |
143,621,943 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6791:Pramel11
|
UTSW |
4 |
143,622,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6972:Pramel11
|
UTSW |
4 |
143,623,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Pramel11
|
UTSW |
4 |
143,621,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7307:Pramel11
|
UTSW |
4 |
143,623,345 (GRCm39) |
nonsense |
probably null |
|
|
R7342:Pramel11
|
UTSW |
4 |
143,623,520 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7361:Pramel11
|
UTSW |
4 |
143,622,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7480:Pramel11
|
UTSW |
4 |
143,622,065 (GRCm39) |
missense |
probably benign |
|
|
R7685:Pramel11
|
UTSW |
4 |
143,624,371 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7861:Pramel11
|
UTSW |
4 |
143,624,288 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8699:Pramel11
|
UTSW |
4 |
143,623,762 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8981:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9100:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9101:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9103:Pramel11
|
UTSW |
4 |
143,624,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Pramel11
|
UTSW |
4 |
143,623,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9198:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9203:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9473:Pramel11
|
UTSW |
4 |
143,620,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9646:Pramel11
|
UTSW |
4 |
143,623,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pramel11
|
UTSW |
4 |
143,622,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pramel11
|
UTSW |
4 |
143,623,769 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAGGTATGCAGATTTCCTTG -3'
(R):5'- ATTTACGAGATGCCCACCAG -3'
Sequencing Primer
(F):5'- CAAGGTATGCAGATTTCCTTGAAAAG -3'
(R):5'- AGATGCCCACCAGGACTTCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation