Incidental Mutation 'R0582:Prpf40a'
| ID |
56450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| MMRRC Submission |
038772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53035704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 695
(F695L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000209364]
[ENSMUST00000210789]
[ENSMUST00000211712]
|
| AlphaFold |
Q9R1C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076313
AA Change: F695L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: F695L
| 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: F668L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210789
AA Change: F653L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Meta Mutation Damage Score |
0.2947 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
| Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
| Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
| Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
| Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
| Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
| Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
| Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
| Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
| Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
| Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
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 |
|
IGL02608:Prpf40a
|
APN |
2 |
53,036,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGGCTTCTGCCTTTTCTAGTAAC -3'
(R):5'- CAGCCGGGTGAGATTCCTTTCTTTC -3'
Sequencing Primer
(F):5'- GATGAGTCCTGTTTCAAACAAGAC -3'
(R):5'- TCCAAGCATACCTTAGGAGTTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation