Incidental Mutation 'R7298:Pramel23'
| ID |
566793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel23
|
| Ensembl Gene |
ENSMUSG00000070617 |
| Gene Name |
PRAME like 23 |
| Synonyms |
Gm13089 |
| MMRRC Submission |
045402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7298 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143425075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 123
(D123Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
| AlphaFold |
A2AGW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073532
AA Change: D123Y
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: D123Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,106 (GRCm39) |
T51S |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,214,336 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acaa1b |
C |
T |
9: 118,980,915 (GRCm39) |
E172K |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,806 (GRCm39) |
T117I |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,474,275 (GRCm39) |
E52G |
possibly damaging |
Het |
| Alg9 |
C |
T |
9: 50,690,361 (GRCm39) |
A121V |
probably damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,027,032 (GRCm39) |
I100T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,750,165 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
A |
T |
16: 44,301,775 (GRCm39) |
M1838L |
probably benign |
Het |
| Cym |
A |
G |
3: 107,127,009 (GRCm39) |
Y49H |
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,404,338 (GRCm39) |
R2735* |
probably null |
Het |
| Dnajc6 |
T |
C |
4: 101,463,808 (GRCm39) |
I187T |
probably benign |
Het |
| Fam151a |
G |
T |
4: 106,592,725 (GRCm39) |
R69L |
possibly damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
C |
A |
14: 101,966,961 (GRCm39) |
G97V |
unknown |
Het |
| Hacl1 |
A |
T |
14: 31,338,443 (GRCm39) |
M378K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-82 |
A |
T |
12: 115,916,574 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kctd19 |
A |
C |
8: 106,109,616 (GRCm39) |
V942G |
probably benign |
Het |
| Lce1l |
C |
T |
3: 92,757,483 (GRCm39) |
C125Y |
unknown |
Het |
| Mmp8 |
T |
C |
9: 7,560,449 (GRCm39) |
F42S |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,148,411 (GRCm39) |
L529P |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,759 (GRCm39) |
Y548N |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,865 (GRCm39) |
F59S |
probably damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,131 (GRCm39) |
T192S |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,545,614 (GRCm39) |
I514F |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,898,264 (GRCm39) |
I353F |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,623,458 (GRCm39) |
S603* |
probably null |
Het |
| Ppa1 |
T |
A |
10: 61,502,691 (GRCm39) |
D171E |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,737 (GRCm39) |
C240R |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,285,016 (GRCm39) |
D714G |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,633,936 (GRCm39) |
F157L |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,600,417 (GRCm39) |
K1475E |
unknown |
Het |
| Retnlg |
A |
G |
16: 48,693,237 (GRCm39) |
N5D |
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,092,185 (GRCm39) |
T1245A |
probably damaging |
Het |
| Rngtt |
G |
T |
4: 33,362,927 (GRCm39) |
L360F |
probably damaging |
Het |
| Scrib |
A |
C |
15: 75,936,610 (GRCm39) |
V447G |
probably damaging |
Het |
| Slc22a6 |
C |
A |
19: 8,598,684 (GRCm39) |
A247E |
possibly damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,539,343 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
T |
A |
1: 69,958,585 (GRCm39) |
|
probably null |
Het |
| Stx3 |
C |
T |
19: 11,767,412 (GRCm39) |
W87* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,181,961 (GRCm39) |
M1158K |
possibly damaging |
Het |
| Tmed9 |
C |
A |
13: 55,741,107 (GRCm39) |
H41N |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
G |
A |
14: 53,887,242 (GRCm39) |
S54N |
probably benign |
Het |
| Tyk2 |
C |
T |
9: 21,020,156 (GRCm39) |
V1001I |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,709,065 (GRCm39) |
V15A |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,065,949 (GRCm39) |
E661G |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,449,979 (GRCm39) |
I75N |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,278,416 (GRCm39) |
V258G |
probably damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,513 (GRCm39) |
K188N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,377,299 (GRCm39) |
S848* |
probably null |
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 |
|
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'- CGTTGATTGAGCCCTGAATCTTC -3'
(R):5'- TTGATTCTAGGCACAGGAATAAGC -3'
Sequencing Primer
(F):5'- CTTCAGCTTTCTACAGCATAGATG -3'
(R):5'- GCTGAAGTGTGAAATGTGA -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation