Incidental Mutation 'R4385:Pramel23'
ID |
326153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel23
|
Ensembl Gene |
ENSMUSG00000070617 |
Gene Name |
PRAME like 23 |
Synonyms |
Gm13089 |
MMRRC Submission |
041124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 143424584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
AlphaFold |
A2AGW7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000073532
|
SMART Domains |
Protein: ENSMUSP00000073224 Gene: ENSMUSG00000070617
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
T |
11: 94,259,065 (GRCm39) |
I426N |
probably damaging |
Het |
Abcc6 |
C |
T |
7: 45,644,752 (GRCm39) |
V808I |
possibly damaging |
Het |
Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
Apbb1 |
A |
G |
7: 105,216,483 (GRCm39) |
S140P |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 14,980,157 (GRCm39) |
C132* |
probably null |
Het |
Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,425,640 (GRCm39) |
R59G |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,785,568 (GRCm39) |
R441G |
probably benign |
Het |
Chsy3 |
A |
G |
18: 59,309,424 (GRCm39) |
I226V |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,312,546 (GRCm39) |
T340S |
possibly damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Col5a1 |
A |
C |
2: 27,914,791 (GRCm39) |
M136L |
probably damaging |
Het |
Coro2a |
A |
T |
4: 46,541,961 (GRCm39) |
I387N |
possibly damaging |
Het |
Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
Cyfip2 |
C |
T |
11: 46,133,230 (GRCm39) |
M823I |
probably benign |
Het |
Dcbld2 |
A |
G |
16: 58,283,429 (GRCm39) |
K555E |
probably damaging |
Het |
Dpep3 |
A |
G |
8: 106,704,818 (GRCm39) |
M164T |
probably damaging |
Het |
Flg |
C |
A |
3: 93,200,316 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,444,311 (GRCm39) |
D37G |
probably damaging |
Het |
Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klk1 |
A |
T |
7: 43,877,993 (GRCm39) |
D83V |
probably benign |
Het |
Klk1b9 |
T |
C |
7: 43,443,699 (GRCm39) |
V71A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,460,607 (GRCm39) |
K806R |
probably damaging |
Het |
Metap1 |
T |
C |
3: 138,180,824 (GRCm39) |
E119G |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,908,059 (GRCm39) |
H1351R |
possibly damaging |
Het |
Nim1k |
T |
C |
13: 120,174,162 (GRCm39) |
D244G |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,193,110 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,386,322 (GRCm39) |
D1136G |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,575,508 (GRCm39) |
I657V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,204,129 (GRCm39) |
V55A |
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,044,826 (GRCm39) |
N1173S |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,681,273 (GRCm39) |
|
probably null |
Het |
Ptprb |
A |
G |
10: 116,182,772 (GRCm39) |
S1483G |
probably benign |
Het |
Rbm48 |
G |
A |
5: 3,640,300 (GRCm39) |
P360S |
probably damaging |
Het |
Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,227,706 (GRCm39) |
S251P |
possibly damaging |
Het |
Rfpl4 |
A |
G |
7: 5,113,669 (GRCm39) |
S165P |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,314,900 (GRCm39) |
L1595Q |
probably damaging |
Het |
Scp2 |
A |
T |
4: 107,928,547 (GRCm39) |
V381D |
probably damaging |
Het |
Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
Slc30a9 |
T |
C |
5: 67,473,110 (GRCm39) |
Y65H |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,178,599 (GRCm39) |
I841T |
probably benign |
Het |
Sp140l1 |
C |
T |
1: 85,087,057 (GRCm39) |
|
probably null |
Het |
Spag7 |
C |
T |
11: 70,560,029 (GRCm39) |
A27T |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,505,036 (GRCm39) |
I181V |
possibly damaging |
Het |
Tm9sf3 |
T |
C |
19: 41,236,372 (GRCm39) |
M130V |
probably damaging |
Het |
Ugt3a1 |
C |
T |
15: 9,306,565 (GRCm39) |
S238F |
probably benign |
Het |
Usp9y |
G |
A |
Y: 1,304,756 (GRCm39) |
L2363F |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,123 (GRCm39) |
H205L |
probably damaging |
Het |
Vps50 |
C |
A |
6: 3,516,694 (GRCm39) |
Q59K |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,913,074 (GRCm39) |
D39V |
probably damaging |
Het |
Zfp146 |
G |
A |
7: 29,861,847 (GRCm39) |
T65I |
probably benign |
Het |
Zfp36 |
T |
C |
7: 28,077,116 (GRCm39) |
D264G |
probably benign |
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 |
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'- GAGCCCATCTTCCCTGATATGC -3'
(R):5'- GCAGACTGTATACAAGAGCTGG -3'
Sequencing Primer
(F):5'- CCATCTTCCCTGATATGCTATGTC -3'
(R):5'- GCCTGGAAGATTTGGATTTTCTTAAC -3'
|
Posted On |
2015-07-06 |