Incidental Mutation 'R3798:Phrf1'
ID |
272845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phrf1
|
Ensembl Gene |
ENSMUSG00000038611 |
Gene Name |
PHD and ring finger domains 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3798 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 140839831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 243
(R243*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026571]
[ENSMUST00000097952]
[ENSMUST00000106023]
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000209899]
[ENSMUST00000132540]
[ENSMUST00000155123]
|
AlphaFold |
A6H619 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026571
|
SMART Domains |
Protein: ENSMUSP00000026571 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
240 |
420 |
1.38e-63 |
SMART |
low complexity region
|
425 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097952
|
SMART Domains |
Protein: ENSMUSP00000095565 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
209 |
389 |
1.38e-63 |
SMART |
low complexity region
|
394 |
411 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106023
|
SMART Domains |
Protein: ENSMUSP00000101644 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
208 |
388 |
1.38e-63 |
SMART |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106027
AA Change: R1168*
|
SMART Domains |
Protein: ENSMUSP00000101648 Gene: ENSMUSG00000038611 AA Change: R1168*
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 |
probably null
Transcript: ENSMUST00000122143
AA Change: R1009*
|
SMART Domains |
Protein: ENSMUSP00000113195 Gene: ENSMUSG00000038611 AA Change: R1009*
Domain | Start | End | E-Value | Type |
C1
|
14 |
70 |
7.05e-2 |
SMART |
PHD
|
28 |
74 |
1.77e-14 |
SMART |
low complexity region
|
173 |
210 |
N/A |
INTRINSIC |
low complexity region
|
332 |
346 |
N/A |
INTRINSIC |
low complexity region
|
348 |
363 |
N/A |
INTRINSIC |
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
low complexity region
|
672 |
698 |
N/A |
INTRINSIC |
low complexity region
|
732 |
743 |
N/A |
INTRINSIC |
low complexity region
|
785 |
796 |
N/A |
INTRINSIC |
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
low complexity region
|
868 |
884 |
N/A |
INTRINSIC |
low complexity region
|
892 |
931 |
N/A |
INTRINSIC |
low complexity region
|
935 |
992 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1014 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1082 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1102 |
N/A |
INTRINSIC |
low complexity region
|
1129 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1149 |
1160 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1217 |
N/A |
INTRINSIC |
low complexity region
|
1267 |
1282 |
N/A |
INTRINSIC |
low complexity region
|
1416 |
1433 |
N/A |
INTRINSIC |
Blast:IG_like
|
1434 |
1477 |
4e-14 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123525
|
SMART Domains |
Protein: ENSMUSP00000121026 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
1 |
69 |
6.35e-3 |
SMART |
IRF-3
|
77 |
251 |
2.62e-55 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142572
AA Change: R243*
|
SMART Domains |
Protein: ENSMUSP00000117393 Gene: ENSMUSG00000038611 AA Change: R243*
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
low complexity region
|
75 |
96 |
N/A |
INTRINSIC |
low complexity region
|
103 |
119 |
N/A |
INTRINSIC |
low complexity region
|
127 |
166 |
N/A |
INTRINSIC |
low complexity region
|
170 |
227 |
N/A |
INTRINSIC |
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
low complexity region
|
293 |
317 |
N/A |
INTRINSIC |
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
low complexity region
|
384 |
395 |
N/A |
INTRINSIC |
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
low complexity region
|
666 |
683 |
N/A |
INTRINSIC |
Blast:IG_like
|
684 |
727 |
3e-14 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130852
AA Change: A29V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131399
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155123
|
SMART Domains |
Protein: ENSMUSP00000120759 Gene: ENSMUSG00000038611
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 |
probably benign
Transcript: ENSMUST00000130687
|
SMART Domains |
Protein: ENSMUSP00000123351 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
low complexity region
|
100 |
115 |
N/A |
INTRINSIC |
low complexity region
|
224 |
241 |
N/A |
INTRINSIC |
Blast:IG_like
|
242 |
285 |
5e-15 |
BLAST |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
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 |
|
R1651:Phrf1
|
UTSW |
7 |
140,817,434 (GRCm39) |
missense |
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 |
|
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'- TTCTTCCTGTGAGCGCCATG -3'
(R):5'- TCACCATAGTCCAGGTCCTC -3'
Sequencing Primer
(F):5'- CTGTGAGCGCCATGAGAGTAAG -3'
(R):5'- TCAGGCAAGACACTTACTTCTG -3'
|
Posted On |
2015-03-25 |