Incidental Mutation 'R5378:Prpf40a'
ID |
425670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prpf40a
|
Ensembl Gene |
ENSMUSG00000061136 |
Gene Name |
pre-mRNA processing factor 40A |
Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
MMRRC Submission |
042953-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5378 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 53035888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 621
(D621V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000209364]
[ENSMUST00000210789]
[ENSMUST00000211712]
|
AlphaFold |
Q9R1C7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076313
AA Change: D663V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075655 Gene: ENSMUSG00000061136 AA Change: D663V
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: D636V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210789
AA Change: D621V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,396,141 (GRCm39) |
F39L |
probably benign |
Het |
Abca2 |
T |
G |
2: 25,336,080 (GRCm39) |
L2150R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,061,865 (GRCm39) |
V3449D |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
Bora |
A |
G |
14: 99,305,929 (GRCm39) |
N433D |
probably damaging |
Het |
Cand2 |
G |
A |
6: 115,778,912 (GRCm39) |
A1159T |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,288,650 (GRCm39) |
A271V |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,601,391 (GRCm39) |
T331I |
possibly damaging |
Het |
Cemip |
A |
G |
7: 83,607,733 (GRCm39) |
S758P |
probably damaging |
Het |
Cenpf |
C |
T |
1: 189,385,663 (GRCm39) |
V2206I |
possibly damaging |
Het |
Chrnb1 |
A |
T |
11: 69,676,007 (GRCm39) |
S412T |
probably benign |
Het |
Cks1b |
A |
C |
3: 89,323,608 (GRCm39) |
W54G |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,708,872 (GRCm39) |
V630M |
unknown |
Het |
Dnajb14 |
A |
G |
3: 137,591,139 (GRCm39) |
D30G |
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,985,296 (GRCm39) |
Y785H |
probably damaging |
Het |
Dsel |
T |
A |
1: 111,790,551 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Esp8 |
G |
A |
17: 40,841,033 (GRCm39) |
C98Y |
unknown |
Het |
F11 |
C |
A |
8: 45,705,180 (GRCm39) |
M120I |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,820,185 (GRCm39) |
F5306S |
possibly damaging |
Het |
Gm4841 |
T |
C |
18: 60,404,113 (GRCm39) |
|
probably null |
Het |
Gpr180 |
T |
A |
14: 118,377,251 (GRCm39) |
L84Q |
probably benign |
Het |
Grwd1 |
A |
T |
7: 45,479,505 (GRCm39) |
D123E |
probably benign |
Het |
Hsfy2 |
T |
C |
1: 56,675,827 (GRCm39) |
R237G |
probably benign |
Het |
Htr5a |
A |
G |
5: 28,055,993 (GRCm39) |
Y328C |
probably damaging |
Het |
Klrb1f |
G |
A |
6: 129,030,794 (GRCm39) |
A127T |
probably damaging |
Het |
Mcpt4 |
A |
T |
14: 56,299,750 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,940 (GRCm39) |
V2962A |
unknown |
Het |
Or52s19 |
T |
A |
7: 103,007,652 (GRCm39) |
I250F |
probably damaging |
Het |
Or5t15 |
A |
T |
2: 86,681,807 (GRCm39) |
N78K |
probably benign |
Het |
Otog |
A |
T |
7: 45,904,428 (GRCm39) |
T518S |
probably damaging |
Het |
Phgdh |
A |
T |
3: 98,228,639 (GRCm39) |
|
probably null |
Het |
Pip5kl1 |
A |
T |
2: 32,469,106 (GRCm39) |
T213S |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,330,977 (GRCm39) |
|
probably benign |
Het |
Ptgr3 |
G |
A |
18: 84,112,803 (GRCm39) |
A160T |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,007,401 (GRCm39) |
I1655F |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,128,558 (GRCm39) |
K55E |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,815,633 (GRCm39) |
V196E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,282,861 (GRCm39) |
M434L |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc35f1 |
A |
T |
10: 52,567,157 (GRCm39) |
H22L |
possibly damaging |
Het |
Smg6 |
A |
G |
11: 74,932,820 (GRCm39) |
D98G |
possibly damaging |
Het |
Strbp |
A |
G |
2: 37,489,186 (GRCm39) |
Y527H |
probably damaging |
Het |
Strbp |
A |
G |
2: 37,490,818 (GRCm39) |
V479A |
probably benign |
Het |
Tdg |
G |
T |
10: 82,477,305 (GRCm39) |
V119L |
probably benign |
Het |
Trav10d |
G |
A |
14: 53,048,825 (GRCm39) |
R72H |
probably benign |
Het |
Trgc2 |
T |
C |
13: 19,489,297 (GRCm39) |
Y145C |
unknown |
Het |
Trim25 |
T |
C |
11: 88,900,093 (GRCm39) |
L280P |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,726 (GRCm39) |
D49G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,720,534 (GRCm39) |
|
probably benign |
Het |
Tyr |
T |
A |
7: 87,121,703 (GRCm39) |
H363L |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,989,822 (GRCm39) |
S2020P |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,315,928 (GRCm39) |
D2069G |
probably damaging |
Het |
Vmn1r170 |
T |
C |
7: 23,305,963 (GRCm39) |
W122R |
probably benign |
Het |
Wdr7 |
G |
A |
18: 63,958,310 (GRCm39) |
|
probably null |
Het |
Ylpm1 |
T |
A |
12: 85,077,029 (GRCm39) |
H793Q |
probably damaging |
Het |
Zfp266 |
G |
A |
9: 20,410,659 (GRCm39) |
T506I |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,300 (GRCm39) |
S1410P |
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 |
|
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 |
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'- TGGTTGAACTGATTATTGCCAC -3'
(R):5'- AAGCATACCTTAGGAGTTGGGATG -3'
Sequencing Primer
(F):5'- GCCACAAAATCTTCAAAAGTAGTG -3'
(R):5'- ATACCTTAGGAGTTGGGATGGATGTG -3'
|
Posted On |
2016-08-04 |