Incidental Mutation 'R0927:Pramel22'
ID |
80491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel22
|
Ensembl Gene |
ENSMUSG00000078513 |
Gene Name |
PRAME like 22 |
Synonyms |
Gm13088 |
MMRRC Submission |
039074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R0927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143380790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 411
(H411L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
AlphaFold |
A2AGW6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105771
AA Change: H411L
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101397 Gene: ENSMUSG00000078513 AA Change: H411L
Domain | Start | End | E-Value | Type |
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
possibly damaging |
Het |
|
Other mutations in Pramel22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Pramel22
|
APN |
4 |
143,381,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01418:Pramel22
|
APN |
4 |
143,381,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01551:Pramel22
|
APN |
4 |
143,383,042 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02016:Pramel22
|
APN |
4 |
143,381,889 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02157:Pramel22
|
APN |
4 |
143,380,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02433:Pramel22
|
APN |
4 |
143,382,007 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02726:Pramel22
|
APN |
4 |
143,381,955 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Pramel22
|
APN |
4 |
143,382,085 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03367:Pramel22
|
APN |
4 |
143,382,193 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02835:Pramel22
|
UTSW |
4 |
143,380,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R0141:Pramel22
|
UTSW |
4 |
143,381,138 (GRCm39) |
missense |
probably benign |
0.01 |
R0166:Pramel22
|
UTSW |
4 |
143,381,081 (GRCm39) |
missense |
probably benign |
0.00 |
R0197:Pramel22
|
UTSW |
4 |
143,383,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0365:Pramel22
|
UTSW |
4 |
143,382,071 (GRCm39) |
nonsense |
probably null |
|
R0427:Pramel22
|
UTSW |
4 |
143,380,993 (GRCm39) |
missense |
probably benign |
0.00 |
R0701:Pramel22
|
UTSW |
4 |
143,383,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1103:Pramel22
|
UTSW |
4 |
143,381,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Pramel22
|
UTSW |
4 |
143,383,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1565:Pramel22
|
UTSW |
4 |
143,382,187 (GRCm39) |
nonsense |
probably null |
|
R1588:Pramel22
|
UTSW |
4 |
143,382,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Pramel22
|
UTSW |
4 |
143,380,916 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1925:Pramel22
|
UTSW |
4 |
143,381,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Pramel22
|
UTSW |
4 |
143,380,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Pramel22
|
UTSW |
4 |
143,380,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Pramel22
|
UTSW |
4 |
143,380,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R2845:Pramel22
|
UTSW |
4 |
143,380,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R3819:Pramel22
|
UTSW |
4 |
143,382,365 (GRCm39) |
missense |
probably benign |
0.02 |
R4660:Pramel22
|
UTSW |
4 |
143,380,847 (GRCm39) |
missense |
probably benign |
0.01 |
R4857:Pramel22
|
UTSW |
4 |
143,383,158 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4888:Pramel22
|
UTSW |
4 |
143,380,971 (GRCm39) |
missense |
probably benign |
0.33 |
R5004:Pramel22
|
UTSW |
4 |
143,380,706 (GRCm39) |
missense |
probably benign |
|
R5242:Pramel22
|
UTSW |
4 |
143,382,181 (GRCm39) |
missense |
probably benign |
0.38 |
R5246:Pramel22
|
UTSW |
4 |
143,382,127 (GRCm39) |
missense |
probably benign |
0.00 |
R5596:Pramel22
|
UTSW |
4 |
143,381,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R5735:Pramel22
|
UTSW |
4 |
143,381,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R5841:Pramel22
|
UTSW |
4 |
143,382,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5982:Pramel22
|
UTSW |
4 |
143,381,034 (GRCm39) |
missense |
probably damaging |
0.99 |
R6052:Pramel22
|
UTSW |
4 |
143,382,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Pramel22
|
UTSW |
4 |
143,380,685 (GRCm39) |
missense |
probably benign |
0.04 |
R6403:Pramel22
|
UTSW |
4 |
143,382,343 (GRCm39) |
nonsense |
probably null |
|
R6584:Pramel22
|
UTSW |
4 |
143,382,040 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6898:Pramel22
|
UTSW |
4 |
143,382,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Pramel22
|
UTSW |
4 |
143,382,130 (GRCm39) |
missense |
probably damaging |
0.96 |
R7563:Pramel22
|
UTSW |
4 |
143,380,675 (GRCm39) |
nonsense |
probably null |
|
R7674:Pramel22
|
UTSW |
4 |
143,382,175 (GRCm39) |
nonsense |
probably null |
|
R7792:Pramel22
|
UTSW |
4 |
143,381,123 (GRCm39) |
missense |
probably benign |
0.00 |
R7796:Pramel22
|
UTSW |
4 |
143,380,727 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7915:Pramel22
|
UTSW |
4 |
143,382,315 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7921:Pramel22
|
UTSW |
4 |
143,383,135 (GRCm39) |
missense |
probably damaging |
0.97 |
R8213:Pramel22
|
UTSW |
4 |
143,380,755 (GRCm39) |
missense |
probably benign |
0.00 |
R8419:Pramel22
|
UTSW |
4 |
143,382,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R8813:Pramel22
|
UTSW |
4 |
143,380,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R8844:Pramel22
|
UTSW |
4 |
143,380,976 (GRCm39) |
missense |
probably damaging |
0.99 |
R8893:Pramel22
|
UTSW |
4 |
143,382,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Pramel22
|
UTSW |
4 |
143,381,097 (GRCm39) |
missense |
probably benign |
0.01 |
R9185:Pramel22
|
UTSW |
4 |
143,381,898 (GRCm39) |
missense |
probably benign |
0.03 |
R9422:Pramel22
|
UTSW |
4 |
143,382,982 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Pramel22
|
UTSW |
4 |
143,382,318 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTTTAGGTGGTTGACATATCCATGC -3'
(R):5'- GGGAACCTCATTTCAAATCCCTGCTG -3'
Sequencing Primer
(F):5'- GCTCCTTTAAGCAAGGGAAATTC -3'
(R):5'- TGCCTGCCCTAAGTCAATG -3'
|
Posted On |
2013-11-07 |