Incidental Mutation 'R1651:Phrf1'
ID |
186388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phrf1
|
Ensembl Gene |
ENSMUSG00000038611 |
Gene Name |
PHD and ring finger domains 1 |
Synonyms |
|
MMRRC Submission |
039687-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1651 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140817434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 81
(V81A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106027]
[ENSMUST00000155123]
|
AlphaFold |
A6H619 |
Predicted Effect |
unknown
Transcript: ENSMUST00000106027
AA Change: V81A
|
SMART Domains |
Protein: ENSMUSP00000101648 Gene: ENSMUSG00000038611 AA Change: V81A
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
low complexity region
|
39 |
70 |
N/A |
INTRINSIC |
RING
|
109 |
149 |
3.78e-5 |
SMART |
C1
|
173 |
229 |
7.05e-2 |
SMART |
PHD
|
187 |
233 |
1.77e-14 |
SMART |
RING
|
188 |
232 |
3.17e0 |
SMART |
low complexity region
|
332 |
369 |
N/A |
INTRINSIC |
low complexity region
|
491 |
505 |
N/A |
INTRINSIC |
low complexity region
|
507 |
522 |
N/A |
INTRINSIC |
low complexity region
|
717 |
728 |
N/A |
INTRINSIC |
low complexity region
|
831 |
857 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
944 |
955 |
N/A |
INTRINSIC |
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
low complexity region
|
999 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1094 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1160 |
1173 |
N/A |
INTRINSIC |
low complexity region
|
1217 |
1241 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
low complexity region
|
1288 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1319 |
N/A |
INTRINSIC |
low complexity region
|
1359 |
1376 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1441 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1592 |
N/A |
INTRINSIC |
Blast:IG_like
|
1593 |
1636 |
4e-14 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134057
|
SMART Domains |
Protein: ENSMUSP00000118425 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
RING
|
27 |
67 |
3.78e-5 |
SMART |
C1
|
91 |
147 |
7.05e-2 |
SMART |
PHD
|
105 |
151 |
1.77e-14 |
SMART |
RING
|
106 |
150 |
3.17e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155123
AA Change: V81A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120759 Gene: ENSMUSG00000038611 AA Change: V81A
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
low complexity region
|
39 |
70 |
N/A |
INTRINSIC |
RING
|
109 |
149 |
3.78e-5 |
SMART |
Blast:C1
|
165 |
209 |
2e-17 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211144
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,802,214 (GRCm39) |
K1125E |
probably benign |
Het |
Crybg2 |
C |
A |
4: 133,802,136 (GRCm39) |
P1099T |
possibly damaging |
Het |
Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
Rp1l1 |
G |
A |
14: 64,268,442 (GRCm39) |
E1343K |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
Tdrd9 |
C |
A |
12: 111,991,140 (GRCm39) |
D543E |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,453 (GRCm39) |
L114P |
probably damaging |
Het |
Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,853,847 (GRCm39) |
L60* |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
probably benign |
Het |
|
Other mutations in Phrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Phrf1
|
APN |
7 |
140,838,790 (GRCm39) |
unclassified |
probably benign |
|
IGL01391:Phrf1
|
APN |
7 |
140,842,394 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01472:Phrf1
|
APN |
7 |
140,836,403 (GRCm39) |
splice site |
probably benign |
|
IGL01633:Phrf1
|
APN |
7 |
140,840,413 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01808:Phrf1
|
APN |
7 |
140,840,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:Phrf1
|
APN |
7 |
140,840,246 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02138:Phrf1
|
APN |
7 |
140,839,196 (GRCm39) |
unclassified |
probably benign |
|
IGL02678:Phrf1
|
APN |
7 |
140,840,195 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03077:Phrf1
|
APN |
7 |
140,834,881 (GRCm39) |
nonsense |
probably null |
|
PIT4466001:Phrf1
|
UTSW |
7 |
140,838,725 (GRCm39) |
missense |
unknown |
|
R0036:Phrf1
|
UTSW |
7 |
140,841,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0036:Phrf1
|
UTSW |
7 |
140,841,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Phrf1
|
UTSW |
7 |
140,823,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Phrf1
|
UTSW |
7 |
140,838,217 (GRCm39) |
unclassified |
probably benign |
|
R0445:Phrf1
|
UTSW |
7 |
140,827,244 (GRCm39) |
utr 3 prime |
probably benign |
|
R0535:Phrf1
|
UTSW |
7 |
140,839,978 (GRCm39) |
missense |
probably benign |
0.07 |
R0561:Phrf1
|
UTSW |
7 |
140,834,876 (GRCm39) |
missense |
probably benign |
0.00 |
R0940:Phrf1
|
UTSW |
7 |
140,834,768 (GRCm39) |
splice site |
probably benign |
|
R1499:Phrf1
|
UTSW |
7 |
140,836,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Phrf1
|
UTSW |
7 |
140,839,714 (GRCm39) |
unclassified |
probably benign |
|
R1691:Phrf1
|
UTSW |
7 |
140,841,787 (GRCm39) |
nonsense |
probably null |
|
R1778:Phrf1
|
UTSW |
7 |
140,812,369 (GRCm39) |
missense |
probably benign |
0.01 |
R1851:Phrf1
|
UTSW |
7 |
140,820,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Phrf1
|
UTSW |
7 |
140,817,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R2857:Phrf1
|
UTSW |
7 |
140,839,593 (GRCm39) |
unclassified |
probably benign |
|
R3796:Phrf1
|
UTSW |
7 |
140,839,831 (GRCm39) |
nonsense |
probably null |
|
R3797:Phrf1
|
UTSW |
7 |
140,839,831 (GRCm39) |
nonsense |
probably null |
|
R3798:Phrf1
|
UTSW |
7 |
140,839,831 (GRCm39) |
nonsense |
probably null |
|
R3799:Phrf1
|
UTSW |
7 |
140,839,831 (GRCm39) |
nonsense |
probably null |
|
R4080:Phrf1
|
UTSW |
7 |
140,839,633 (GRCm39) |
unclassified |
probably benign |
|
R4081:Phrf1
|
UTSW |
7 |
140,838,970 (GRCm39) |
unclassified |
probably benign |
|
R4557:Phrf1
|
UTSW |
7 |
140,838,842 (GRCm39) |
unclassified |
probably benign |
|
R5217:Phrf1
|
UTSW |
7 |
140,840,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Phrf1
|
UTSW |
7 |
140,841,214 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5276:Phrf1
|
UTSW |
7 |
140,839,196 (GRCm39) |
unclassified |
probably benign |
|
R5442:Phrf1
|
UTSW |
7 |
140,820,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R5501:Phrf1
|
UTSW |
7 |
140,839,834 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5695:Phrf1
|
UTSW |
7 |
140,838,378 (GRCm39) |
unclassified |
probably benign |
|
R5837:Phrf1
|
UTSW |
7 |
140,839,974 (GRCm39) |
missense |
probably benign |
0.34 |
R5907:Phrf1
|
UTSW |
7 |
140,840,453 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5996:Phrf1
|
UTSW |
7 |
140,839,015 (GRCm39) |
unclassified |
probably benign |
|
R6024:Phrf1
|
UTSW |
7 |
140,838,898 (GRCm39) |
unclassified |
probably benign |
|
R6244:Phrf1
|
UTSW |
7 |
140,817,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R6512:Phrf1
|
UTSW |
7 |
140,840,309 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7016:Phrf1
|
UTSW |
7 |
140,817,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R7311:Phrf1
|
UTSW |
7 |
140,820,846 (GRCm39) |
missense |
unknown |
|
R7409:Phrf1
|
UTSW |
7 |
140,839,205 (GRCm39) |
missense |
unknown |
|
R7517:Phrf1
|
UTSW |
7 |
140,836,523 (GRCm39) |
missense |
unknown |
|
R7560:Phrf1
|
UTSW |
7 |
140,811,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7699:Phrf1
|
UTSW |
7 |
140,834,842 (GRCm39) |
missense |
unknown |
|
R7700:Phrf1
|
UTSW |
7 |
140,834,842 (GRCm39) |
missense |
unknown |
|
R7867:Phrf1
|
UTSW |
7 |
140,836,524 (GRCm39) |
missense |
unknown |
|
R7895:Phrf1
|
UTSW |
7 |
140,839,288 (GRCm39) |
missense |
unknown |
|
R8179:Phrf1
|
UTSW |
7 |
140,836,493 (GRCm39) |
missense |
unknown |
|
R8705:Phrf1
|
UTSW |
7 |
140,838,651 (GRCm39) |
missense |
unknown |
|
R8708:Phrf1
|
UTSW |
7 |
140,812,446 (GRCm39) |
missense |
unknown |
|
R8748:Phrf1
|
UTSW |
7 |
140,838,148 (GRCm39) |
missense |
unknown |
|
R8768:Phrf1
|
UTSW |
7 |
140,838,651 (GRCm39) |
missense |
unknown |
|
R8789:Phrf1
|
UTSW |
7 |
140,836,581 (GRCm39) |
missense |
unknown |
|
R8859:Phrf1
|
UTSW |
7 |
140,836,516 (GRCm39) |
missense |
unknown |
|
R8991:Phrf1
|
UTSW |
7 |
140,823,671 (GRCm39) |
missense |
unknown |
|
R9086:Phrf1
|
UTSW |
7 |
140,839,412 (GRCm39) |
missense |
unknown |
|
R9158:Phrf1
|
UTSW |
7 |
140,836,466 (GRCm39) |
missense |
unknown |
|
R9287:Phrf1
|
UTSW |
7 |
140,840,055 (GRCm39) |
missense |
probably benign |
0.35 |
R9561:Phrf1
|
UTSW |
7 |
140,834,815 (GRCm39) |
missense |
unknown |
|
X0027:Phrf1
|
UTSW |
7 |
140,836,481 (GRCm39) |
missense |
probably benign |
|
Z1176:Phrf1
|
UTSW |
7 |
140,838,731 (GRCm39) |
missense |
unknown |
|
Z1176:Phrf1
|
UTSW |
7 |
140,823,796 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAGCCTGTGATAGCTCACACC -3'
(R):5'- TGGACCATTCGATGATGCAATCCAG -3'
Sequencing Primer
(F):5'- GGAGCTAGTGTAATCACTTAGCC -3'
(R):5'- TCCAGGCAGAAATAATGGGCAC -3'
|
Posted On |
2014-05-09 |