Incidental Mutation 'R8982:Pramel23'
| ID |
683768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel23
|
| Ensembl Gene |
ENSMUSG00000070617 |
| Gene Name |
PRAME like 23 |
| Synonyms |
Gm13089 |
| MMRRC Submission |
068815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 143424886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 186
(I186L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
| AlphaFold |
A2AGW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073532
AA Change: I186L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: I186L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,677,485 (GRCm39) |
N493S |
probably benign |
Het |
| Actg2 |
T |
C |
6: 83,497,697 (GRCm39) |
D185G |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,748,750 (GRCm39) |
N1439S |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,293,316 (GRCm39) |
S745T |
probably damaging |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
G |
17: 34,953,338 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,533 (GRCm39) |
S79P |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,671 (GRCm39) |
W58R |
probably damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,667 (GRCm39) |
C387S |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Ckap5 |
T |
C |
2: 91,437,923 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,364,559 (GRCm39) |
V852A |
unknown |
Het |
| Col22a1 |
A |
G |
15: 71,845,487 (GRCm39) |
|
probably null |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,536,294 (GRCm39) |
Y684C |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,570,301 (GRCm39) |
E1835G |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,812 (GRCm39) |
Q155L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,895 (GRCm39) |
D36G |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,305 (GRCm39) |
V2412A |
probably benign |
Het |
| Hoxa13 |
T |
A |
6: 52,235,916 (GRCm39) |
K210* |
probably null |
Het |
| Hoxc5 |
T |
C |
15: 102,923,740 (GRCm39) |
Y179H |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,146,110 (GRCm39) |
A129T |
probably benign |
Het |
| Htr1d |
A |
T |
4: 136,170,866 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Krt72 |
C |
T |
15: 101,690,059 (GRCm39) |
V253M |
possibly damaging |
Het |
| Mecom |
G |
A |
3: 30,017,255 (GRCm39) |
T470I |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,897,549 (GRCm39) |
A129V |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,327,978 (GRCm39) |
I692F |
probably damaging |
Het |
| Nr6a1 |
T |
A |
2: 38,762,613 (GRCm39) |
I61L |
probably benign |
Het |
| Or10aa1 |
T |
G |
1: 173,870,188 (GRCm39) |
V224G |
probably damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,306 (GRCm39) |
C188Y |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,613 (GRCm39) |
I290K |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,387,069 (GRCm39) |
L1314* |
probably null |
Het |
| Pogz |
G |
A |
3: 94,786,879 (GRCm39) |
V1156M |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,102,134 (GRCm39) |
C736S |
probably damaging |
Het |
| Psg18 |
T |
A |
7: 18,083,300 (GRCm39) |
H285L |
probably benign |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,599,915 (GRCm39) |
V554M |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,511 (GRCm39) |
T312A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,850,966 (GRCm39) |
W421* |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,426,624 (GRCm39) |
I291T |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,658,069 (GRCm39) |
N15D |
probably damaging |
Het |
| Tmem179 |
A |
T |
12: 112,468,301 (GRCm39) |
L193Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,668 (GRCm39) |
L196Q |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,804 (GRCm39) |
T493A |
possibly damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,263,001 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
A |
G |
9: 121,592,334 (GRCm39) |
E218G |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,279,344 (GRCm39) |
G601S |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,578 (GRCm39) |
L19P |
probably benign |
Het |
| Zfp385b |
G |
T |
2: 77,242,300 (GRCm39) |
T473K |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,172 (GRCm39) |
K48E |
probably 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 |
|
R1052:Pramel23
|
UTSW |
4 |
143,423,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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'- TTCACCCATACTGACAGTACCTTTG -3'
(R):5'- TTTGCAAGGAATATGGCCTGG -3'
Sequencing Primer
(F):5'- CTGACAGTACCTTTGATTTCATCTAG -3'
(R):5'- AATATGGCCTGGGTCCCATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation