Incidental Mutation 'R6150:Prpf40a'
| ID |
489165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf40a
|
| Ensembl Gene |
ENSMUSG00000061136 |
| Gene Name |
pre-mRNA processing factor 40A |
| Synonyms |
2810012K09Rik, FBP11, Fnbp3 |
| MMRRC Submission |
044297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
53024714-53081450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53047927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 197
(M197V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076313]
[ENSMUST00000125243]
[ENSMUST00000209364]
[ENSMUST00000209508]
[ENSMUST00000210789]
[ENSMUST00000211102]
[ENSMUST00000211712]
|
| AlphaFold |
Q9R1C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076313
AA Change: M239V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: M239V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210789
AA Change: M197V
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211712
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,104,334 (GRCm39) |
T74A |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,618,782 (GRCm39) |
|
probably null |
Het |
| Art1 |
C |
G |
7: 101,756,294 (GRCm39) |
R162G |
probably benign |
Het |
| Boll |
T |
A |
1: 55,309,812 (GRCm39) |
I280F |
possibly damaging |
Het |
| Cep44 |
T |
C |
8: 56,992,840 (GRCm39) |
E258G |
probably benign |
Het |
| Cutc |
T |
A |
19: 43,748,328 (GRCm39) |
V75E |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,428 (GRCm39) |
K590R |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,494,172 (GRCm39) |
D295E |
probably damaging |
Het |
| Erc2 |
C |
A |
14: 27,863,248 (GRCm39) |
S491Y |
probably damaging |
Het |
| F2rl3 |
G |
T |
8: 73,489,366 (GRCm39) |
A198S |
probably benign |
Het |
| Fam83b |
G |
A |
9: 76,399,639 (GRCm39) |
T488M |
probably damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,994 (GRCm39) |
L73P |
probably damaging |
Het |
| Fxyd1 |
T |
C |
7: 30,754,228 (GRCm39) |
|
probably null |
Het |
| Gm17186 |
T |
C |
14: 51,918,183 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
C |
A |
4: 119,591,274 (GRCm39) |
S94* |
probably null |
Het |
| Ifna1 |
T |
A |
4: 88,768,349 (GRCm39) |
M9K |
probably null |
Het |
| Igsf11 |
G |
A |
16: 38,843,711 (GRCm39) |
E275K |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,104,769 (GRCm39) |
L1086F |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,606,780 (GRCm39) |
S374P |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,577,641 (GRCm39) |
N842K |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,557 (GRCm39) |
V595M |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,989,088 (GRCm39) |
I823N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,111 (GRCm39) |
L1069P |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,287,902 (GRCm39) |
|
probably benign |
Het |
| Map10 |
G |
A |
8: 126,398,328 (GRCm39) |
D574N |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,487 (GRCm39) |
H565Q |
probably benign |
Het |
| Myb |
A |
G |
10: 21,017,668 (GRCm39) |
I641T |
probably damaging |
Het |
| Naaladl2 |
C |
A |
3: 24,606,214 (GRCm39) |
G15V |
probably null |
Het |
| Or10k2 |
G |
A |
8: 84,267,782 (GRCm39) |
C3Y |
probably benign |
Het |
| Or3a4 |
A |
C |
11: 73,945,145 (GRCm39) |
S147A |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,170 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
G |
7: 45,913,483 (GRCm39) |
E772G |
possibly damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,045 (GRCm39) |
D674G |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,942,137 (GRCm39) |
|
probably null |
Het |
| Pomk |
A |
G |
8: 26,473,284 (GRCm39) |
V223A |
possibly damaging |
Het |
| Serpina1e |
A |
G |
12: 103,917,066 (GRCm39) |
V201A |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,831,446 (GRCm39) |
P646S |
probably benign |
Het |
| Slc17a9 |
A |
G |
2: 180,379,421 (GRCm39) |
I298V |
probably benign |
Het |
| Slc37a2 |
G |
T |
9: 37,149,643 (GRCm39) |
T188K |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,222,579 (GRCm39) |
F525I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,461,516 (GRCm39) |
D1504V |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,000 (GRCm39) |
M907K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,501 (GRCm39) |
N376K |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,483 (GRCm39) |
T430S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,457,906 (GRCm39) |
V508D |
probably benign |
Het |
| Tmem184c |
G |
T |
8: 78,323,069 (GRCm39) |
Q598K |
probably benign |
Het |
| Ube2v1 |
G |
A |
2: 167,459,874 (GRCm39) |
R42* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,091,835 (GRCm39) |
T84A |
probably damaging |
Het |
| Vgll3 |
T |
A |
16: 65,625,064 (GRCm39) |
|
probably null |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,678 (GRCm39) |
H212L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,269 (GRCm39) |
V737A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,555 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,128,073 (GRCm39) |
Y965* |
probably null |
Het |
| Zfp521 |
A |
T |
18: 13,977,135 (GRCm39) |
C1093S |
probably damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,247 (GRCm39) |
H282P |
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 |
|
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'- TCGTAAGGCTCAGGAAGTCAAG -3'
(R):5'- GTTGCATTGAGGCTTTGAAACTC -3'
Sequencing Primer
(F):5'- CAACATACGCAAGGCTGTGGTTC -3'
(R):5'- TGAGGCTTTGAAACTCAAGTAAATAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation