Incidental Mutation 'R6603:Prpf40a'
| ID |
525406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| MMRRC Submission |
044726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53042975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 436
(R436S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147599
(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: R478S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: R478S
| 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 damaging
Transcript: ENSMUST00000209364
AA Change: R451S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209508
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210789
AA Change: R436S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
T |
8: 25,155,518 (GRCm39) |
F167Y |
possibly damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,549,881 (GRCm39) |
S755P |
probably benign |
Het |
| Aph1a |
A |
T |
3: 95,802,808 (GRCm39) |
N136I |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,686,046 (GRCm39) |
N207K |
probably benign |
Het |
| Caprin1 |
A |
T |
2: 103,605,856 (GRCm39) |
D377E |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,899,811 (GRCm39) |
|
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,181 (GRCm39) |
N577S |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,704,624 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,648,240 (GRCm39) |
|
probably null |
Het |
| Fam13a |
T |
C |
6: 58,964,174 (GRCm39) |
K86R |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxl8 |
A |
T |
8: 105,994,842 (GRCm39) |
D118V |
probably damaging |
Het |
| Garin5b |
G |
A |
7: 4,761,431 (GRCm39) |
P427L |
possibly damaging |
Het |
| Git2 |
C |
A |
5: 114,869,052 (GRCm39) |
|
probably null |
Het |
| Gm17190 |
T |
G |
13: 96,218,770 (GRCm39) |
D35E |
possibly damaging |
Het |
| Gnb4 |
C |
T |
3: 32,639,295 (GRCm39) |
D333N |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,968 (GRCm39) |
D249V |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,141 (GRCm39) |
S94P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,248,669 (GRCm39) |
I1029T |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,544 (GRCm39) |
I44T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,849,890 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
A |
8: 36,690,095 (GRCm39) |
R654S |
probably damaging |
Het |
| Lrrc49 |
A |
C |
9: 60,501,052 (GRCm39) |
|
probably null |
Het |
| Miip |
T |
G |
4: 147,950,380 (GRCm39) |
K72T |
possibly damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,419 (GRCm39) |
P782S |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,322 (GRCm39) |
T266A |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,446,931 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,842 (GRCm39) |
N46K |
probably damaging |
Het |
| Or51a8 |
A |
T |
7: 102,549,621 (GRCm39) |
I16F |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,901,189 (GRCm39) |
R360C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,145 (GRCm39) |
I385V |
probably benign |
Het |
| Prmt8 |
A |
T |
6: 127,706,376 (GRCm39) |
F138L |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,375 (GRCm39) |
I181F |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,792,310 (GRCm39) |
E87G |
probably damaging |
Het |
| Scrib |
T |
A |
15: 75,934,572 (GRCm39) |
T674S |
probably benign |
Het |
| Slc9a4 |
A |
G |
1: 40,662,664 (GRCm39) |
S644G |
probably benign |
Het |
| Slc9a9 |
G |
A |
9: 94,821,599 (GRCm39) |
A329T |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Sox7 |
T |
A |
14: 64,185,637 (GRCm39) |
H224Q |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,479 (GRCm39) |
S876P |
probably damaging |
Het |
| Syndig1 |
G |
A |
2: 149,845,208 (GRCm39) |
V244M |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,421 (GRCm39) |
I150L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,168,343 (GRCm39) |
Y295C |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,939,006 (GRCm39) |
P56L |
probably benign |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,168 (GRCm39) |
D222E |
possibly damaging |
Het |
| Trim52 |
T |
C |
14: 106,344,483 (GRCm39) |
L47P |
probably damaging |
Het |
| Ttc34 |
T |
A |
4: 154,923,762 (GRCm39) |
I157K |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,389,224 (GRCm39) |
F492S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,897 (GRCm39) |
I428V |
probably benign |
Het |
| Vmn2r41 |
T |
A |
7: 8,141,359 (GRCm39) |
I702F |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,121,783 (GRCm39) |
H256L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,888 (GRCm39) |
H3043R |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,270,459 (GRCm39) |
Q500* |
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,475 (GRCm39) |
N38S |
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 |
|
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 |
|
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'- AGCTAATGTGGTACGTTTATTCCC -3'
(R):5'- AAAGCCTTTACATTTGCTTCTCCAG -3'
Sequencing Primer
(F):5'- CCCTCATTAATAGCTTAAAAGTTGGC -3'
(R):5'- GCTTCTCCAGCGTTTATTCTTATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation