Incidental Mutation 'IGL02608:Prpf40a'
| ID |
300362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02608
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53036165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 588
(M588K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000209364]
[ENSMUST00000210789]
[ENSMUST00000211712]
|
| AlphaFold |
Q9R1C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076313
AA Change: M630K
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: M630K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
124 |
N/A |
INTRINSIC |
|
WW
|
141 |
173 |
7.54e-13 |
SMART |
|
WW
|
182 |
214 |
1.57e-10 |
SMART |
|
low complexity region
|
272 |
294 |
N/A |
INTRINSIC |
|
FF
|
389 |
443 |
1.32e-17 |
SMART |
|
FF
|
456 |
515 |
4.22e1 |
SMART |
|
FF
|
523 |
583 |
1.11e-10 |
SMART |
|
FF
|
603 |
663 |
4.31e0 |
SMART |
|
low complexity region
|
670 |
682 |
N/A |
INTRINSIC |
|
FF
|
739 |
795 |
7.43e-12 |
SMART |
|
low complexity region
|
802 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133384
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209364
AA Change: M603K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210789
AA Change: M588K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
T |
A |
15: 102,247,627 (GRCm39) |
M415L |
probably benign |
Het |
| Akap6 |
T |
C |
12: 53,057,389 (GRCm39) |
S952P |
probably benign |
Het |
| Aldh3a1 |
A |
G |
11: 61,107,147 (GRCm39) |
R284G |
probably damaging |
Het |
| Aldh3b1 |
G |
T |
19: 3,964,061 (GRCm39) |
H414N |
probably damaging |
Het |
| Chd5 |
G |
A |
4: 152,440,564 (GRCm39) |
M141I |
possibly damaging |
Het |
| Cntn2 |
C |
T |
1: 132,453,654 (GRCm39) |
A340T |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,187,055 (GRCm39) |
C288* |
probably null |
Het |
| Dcn |
A |
G |
10: 97,319,319 (GRCm39) |
E32G |
probably damaging |
Het |
| Dock5 |
C |
T |
14: 68,065,888 (GRCm39) |
V372M |
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,670 (GRCm39) |
E13G |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,392,469 (GRCm39) |
E781G |
probably benign |
Het |
| Gucy1a2 |
A |
G |
9: 3,635,113 (GRCm39) |
I386V |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,928,876 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxb5 |
T |
A |
11: 96,195,969 (GRCm39) |
|
probably benign |
Het |
| Iqch |
T |
A |
9: 63,329,110 (GRCm39) |
|
probably benign |
Het |
| Itgal |
C |
T |
7: 126,909,416 (GRCm39) |
P423S |
probably damaging |
Het |
| Kti12 |
T |
G |
4: 108,705,359 (GRCm39) |
L91R |
probably damaging |
Het |
| Lgals3 |
T |
C |
14: 47,623,058 (GRCm39) |
M239T |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,146,311 (GRCm39) |
M375T |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,152,244 (GRCm39) |
E1103G |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,887,339 (GRCm39) |
E3056V |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,981,452 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,264,040 (GRCm39) |
T180I |
probably benign |
Het |
| Nectin4 |
T |
C |
1: 171,212,341 (GRCm39) |
V313A |
probably benign |
Het |
| Nol4l |
A |
G |
2: 153,278,213 (GRCm39) |
S8P |
possibly damaging |
Het |
| Npas2 |
T |
A |
1: 39,384,527 (GRCm39) |
S607T |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,138,955 (GRCm39) |
M9K |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,394,003 (GRCm39) |
L422P |
probably damaging |
Het |
| Or14j3 |
T |
A |
17: 37,901,110 (GRCm39) |
I45F |
probably damaging |
Het |
| Papola |
G |
T |
12: 105,775,818 (GRCm39) |
G245C |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,747 (GRCm39) |
S223P |
probably damaging |
Het |
| Pdcd4 |
T |
C |
19: 53,915,638 (GRCm39) |
|
probably null |
Het |
| Pigg |
T |
C |
5: 108,460,869 (GRCm39) |
F27L |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,770,944 (GRCm39) |
N764S |
probably benign |
Het |
| Ptar1 |
A |
C |
19: 23,683,076 (GRCm39) |
E110A |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,818 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,524,576 (GRCm39) |
T589A |
probably benign |
Het |
| Rpl21-ps4 |
G |
T |
14: 11,227,831 (GRCm38) |
|
noncoding transcript |
Het |
| Rpp38 |
T |
C |
2: 3,330,198 (GRCm39) |
T235A |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,903,236 (GRCm39) |
|
probably null |
Het |
| Scn3a |
A |
T |
2: 65,354,510 (GRCm39) |
C337* |
probably null |
Het |
| Sec61a2 |
T |
C |
2: 5,879,073 (GRCm39) |
T312A |
probably benign |
Het |
| Snrpg |
C |
A |
6: 86,353,550 (GRCm39) |
D43E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,639,822 (GRCm39) |
Q126L |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,081 (GRCm39) |
V155A |
probably benign |
Het |
| Tet1 |
G |
A |
10: 62,715,388 (GRCm39) |
H136Y |
possibly damaging |
Het |
| Tet1 |
C |
A |
10: 62,674,866 (GRCm39) |
S1070I |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,991 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tnfrsf13c |
C |
T |
15: 82,107,364 (GRCm39) |
V144M |
probably damaging |
Het |
| Tnfrsf22 |
T |
A |
7: 143,198,533 (GRCm39) |
K61* |
probably null |
Het |
| Trhr |
T |
C |
15: 44,061,074 (GRCm39) |
V198A |
probably benign |
Het |
| Trp53inp2 |
A |
G |
2: 155,228,569 (GRCm39) |
R175G |
probably damaging |
Het |
| Try10 |
G |
A |
6: 41,332,421 (GRCm39) |
G26R |
probably damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,370 (GRCm39) |
V244A |
probably damaging |
Het |
| Wrnip1 |
T |
A |
13: 32,990,857 (GRCm39) |
L372H |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,261 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,690,940 (GRCm39) |
V85A |
probably damaging |
Het |
|
| Other mutations in Prpf40a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Prpf40a
|
APN |
2 |
53,040,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00533:Prpf40a
|
APN |
2 |
53,035,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Prpf40a
|
APN |
2 |
53,031,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02039:Prpf40a
|
APN |
2 |
53,034,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Prpf40a
|
UTSW |
2 |
53,066,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0284:Prpf40a
|
UTSW |
2 |
53,040,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Prpf40a
|
UTSW |
2 |
53,049,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0544:Prpf40a
|
UTSW |
2 |
53,031,663 (GRCm39) |
unclassified |
probably benign |
|
|
R0582:Prpf40a
|
UTSW |
2 |
53,035,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Prpf40a
|
UTSW |
2 |
53,035,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Prpf40a
|
UTSW |
2 |
53,034,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Prpf40a
|
UTSW |
2 |
53,036,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Prpf40a
|
UTSW |
2 |
53,032,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4814:Prpf40a
|
UTSW |
2 |
53,080,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Prpf40a
|
UTSW |
2 |
53,034,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Prpf40a
|
UTSW |
2 |
53,034,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Prpf40a
|
UTSW |
2 |
53,035,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5448:Prpf40a
|
UTSW |
2 |
53,046,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5449:Prpf40a
|
UTSW |
2 |
53,046,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5450:Prpf40a
|
UTSW |
2 |
53,046,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5500:Prpf40a
|
UTSW |
2 |
53,035,296 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5637:Prpf40a
|
UTSW |
2 |
53,046,746 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6052:Prpf40a
|
UTSW |
2 |
53,049,293 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6149:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6150:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6151:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6162:Prpf40a
|
UTSW |
2 |
53,049,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6199:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6200:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6207:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6254:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6266:Prpf40a
|
UTSW |
2 |
53,046,639 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6394:Prpf40a
|
UTSW |
2 |
53,034,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Prpf40a
|
UTSW |
2 |
53,042,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6606:Prpf40a
|
UTSW |
2 |
53,041,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6641:Prpf40a
|
UTSW |
2 |
53,031,638 (GRCm39) |
unclassified |
probably benign |
|
|
R6929:Prpf40a
|
UTSW |
2 |
53,034,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7158:Prpf40a
|
UTSW |
2 |
53,042,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7401:Prpf40a
|
UTSW |
2 |
53,046,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7675:Prpf40a
|
UTSW |
2 |
53,035,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7750:Prpf40a
|
UTSW |
2 |
53,041,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Prpf40a
|
UTSW |
2 |
53,046,853 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8027:Prpf40a
|
UTSW |
2 |
53,081,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8817:Prpf40a
|
UTSW |
2 |
53,042,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8829:Prpf40a
|
UTSW |
2 |
53,047,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8964:Prpf40a
|
UTSW |
2 |
53,035,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Prpf40a
|
UTSW |
2 |
53,035,255 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9411:Prpf40a
|
UTSW |
2 |
53,029,200 (GRCm39) |
missense |
unknown |
|
|
R9699:Prpf40a
|
UTSW |
2 |
53,035,735 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0060:Prpf40a
|
UTSW |
2 |
53,035,676 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Prpf40a
|
UTSW |
2 |
53,034,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation