Incidental Mutation 'R1052:Pramel23'
| ID |
94034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel23
|
| Ensembl Gene |
ENSMUSG00000070617 |
| Gene Name |
PRAME like 23 |
| Synonyms |
Gm13089 |
| MMRRC Submission |
039142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1052 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143423477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 437
(I437M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
| AlphaFold |
A2AGW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073532
AA Change: I437M
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: I437M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
| Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,925,921 (GRCm39) |
Y508C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
| Casq2 |
T |
C |
3: 102,051,550 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
A |
T |
2: 154,202,519 (GRCm39) |
I237N |
possibly damaging |
Het |
| Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
| Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
| Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
| Hspa5 |
A |
G |
2: 34,665,110 (GRCm39) |
T424A |
probably damaging |
Het |
| Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
| Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
| Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
| Pask |
A |
T |
1: 93,258,549 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
| Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
| Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
| Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
possibly damaging |
Het |
|
| Other mutations in Pramel23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Pramel23
|
APN |
4 |
143,423,410 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02087:Pramel23
|
APN |
4 |
143,423,644 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02296:Pramel23
|
APN |
4 |
143,425,051 (GRCm39) |
nonsense |
probably null |
|
|
IGL02902:Pramel23
|
APN |
4 |
143,424,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Pramel23
|
APN |
4 |
143,425,736 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02962:Pramel23
|
APN |
4 |
143,423,910 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03351:Pramel23
|
APN |
4 |
143,423,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0122:Pramel23
|
UTSW |
4 |
143,424,974 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0533:Pramel23
|
UTSW |
4 |
143,424,590 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Pramel23
|
UTSW |
4 |
143,425,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Pramel23
|
UTSW |
4 |
143,425,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0744:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0833:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1690:Pramel23
|
UTSW |
4 |
143,424,693 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1764:Pramel23
|
UTSW |
4 |
143,424,840 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1896:Pramel23
|
UTSW |
4 |
143,424,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2084:Pramel23
|
UTSW |
4 |
143,425,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2178:Pramel23
|
UTSW |
4 |
143,424,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2888:Pramel23
|
UTSW |
4 |
143,423,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3759:Pramel23
|
UTSW |
4 |
143,423,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Pramel23
|
UTSW |
4 |
143,424,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Pramel23
|
UTSW |
4 |
143,424,856 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4385:Pramel23
|
UTSW |
4 |
143,424,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4513:Pramel23
|
UTSW |
4 |
143,424,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Pramel23
|
UTSW |
4 |
143,425,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4920:Pramel23
|
UTSW |
4 |
143,425,853 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4994:Pramel23
|
UTSW |
4 |
143,424,939 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5197:Pramel23
|
UTSW |
4 |
143,424,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6005:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Pramel23
|
UTSW |
4 |
143,424,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6197:Pramel23
|
UTSW |
4 |
143,423,886 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6264:Pramel23
|
UTSW |
4 |
143,425,722 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6821:Pramel23
|
UTSW |
4 |
143,425,874 (GRCm39) |
nonsense |
probably null |
|
|
R6923:Pramel23
|
UTSW |
4 |
143,425,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7034:Pramel23
|
UTSW |
4 |
143,423,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7298:Pramel23
|
UTSW |
4 |
143,425,075 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7529:Pramel23
|
UTSW |
4 |
143,429,244 (GRCm39) |
|
|
|
|
R7766:Pramel23
|
UTSW |
4 |
143,425,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7774:Pramel23
|
UTSW |
4 |
143,423,676 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7816:Pramel23
|
UTSW |
4 |
143,424,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Pramel23
|
UTSW |
4 |
143,425,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Pramel23
|
UTSW |
4 |
143,423,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Pramel23
|
UTSW |
4 |
143,424,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9016:Pramel23
|
UTSW |
4 |
143,423,899 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9100:Pramel23
|
UTSW |
4 |
143,425,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9200:Pramel23
|
UTSW |
4 |
143,423,856 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9257:Pramel23
|
UTSW |
4 |
143,425,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Pramel23
|
UTSW |
4 |
143,423,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Pramel23
|
UTSW |
4 |
143,424,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Pramel23
|
UTSW |
4 |
143,424,650 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pramel23
|
UTSW |
4 |
143,423,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGCCCTATGCTTTGGGTC -3'
(R):5'- TCAGTGTTGCCAACTCACAGAAGTC -3'
Sequencing Primer
(F):5'- cacactccacaactacaaaaattc -3'
(R):5'- CCAACTCACAGAAGTCAATTTCTATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation