Incidental Mutation 'R5449:Prpf40a'
| ID |
429204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| MMRRC Submission |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53046938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 266
(T266N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000125243]
[ENSMUST00000209364]
[ENSMUST00000209508]
[ENSMUST00000210789]
[ENSMUST00000211102]
[ENSMUST00000211712]
|
| AlphaFold |
Q9R1C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076313
AA Change: T266N
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: T266N
| 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 |
probably benign
Transcript: ENSMUST00000125243
|
| SMART Domains |
Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
82 |
N/A |
INTRINSIC |
|
WW
|
99 |
131 |
7.54e-13 |
SMART |
|
WW
|
140 |
172 |
1.57e-10 |
SMART |
|
low complexity region
|
230 |
252 |
N/A |
INTRINSIC |
|
FF
|
347 |
401 |
1.32e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209364
AA Change: T239N
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209508
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210789
AA Change: T224N
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Meta Mutation Damage Score |
0.0875 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
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 |
|
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 |
|
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'- GCTCTTCAGTTGATACAGTTACTG -3'
(R):5'- GTATTGAAATGACCAGTTCTCGTG -3'
Sequencing Primer
(F):5'- TGGAACACTTCCCACAGT -3'
(R):5'- GAAATGACCAGTTCTCGTGTTCTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation