Incidental Mutation 'R6929:Prpf40a'
| ID |
539887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| MMRRC Submission |
045007-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6929 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53034875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 771
(V771A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000209364]
[ENSMUST00000210789]
[ENSMUST00000211712]
|
| AlphaFold |
Q9R1C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076313
AA Change: V771A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: V771A
| 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 |
possibly damaging
Transcript: ENSMUST00000209364
AA Change: V744A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210789
AA Change: V729A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
| Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
| C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
| Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
| Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 28,014,462 (GRCm39) |
D655G |
unknown |
Het |
| Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
| Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
| Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
| Or52z12 |
A |
T |
7: 103,233,651 (GRCm39) |
I141F |
probably damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
| Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,918,695 (GRCm39) |
N43I |
probably damaging |
Het |
| Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
| Zfp663 |
G |
C |
2: 165,195,178 (GRCm39) |
P347R |
probably benign |
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 |
|
|
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 |
|
|
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'- ATAGCCCCTGCACACCTATTTG -3'
(R):5'- GGGACAGGGCTTAGATCTATGTAC -3'
Sequencing Primer
(F):5'- CTGCACACCTATTTGTCATGTG -3'
(R):5'- AGGGCTTAGATCTATGTACTTGATTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation