Incidental Mutation 'R5501:Phrf1'
ID |
430610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phrf1
|
Ensembl Gene |
ENSMUSG00000038611 |
Gene Name |
PHD and ring finger domains 1 |
Synonyms |
|
MMRRC Submission |
043062-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5501 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 140839834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 1169
(S1169A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101648
(fasta)
|
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 |
possibly damaging
Transcript: ENSMUST00000106027
AA Change: S1169A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101648 Gene: ENSMUSG00000038611 AA Change: S1169A
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 |
unknown
Transcript: ENSMUST00000122143
AA Change: S1010A
|
SMART Domains |
Protein: ENSMUSP00000113195 Gene: ENSMUSG00000038611 AA Change: S1010A
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 |
noncoding transcript
Transcript: ENSMUST00000130852
AA Change: I30S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142572
AA Change: S244A
|
SMART Domains |
Protein: ENSMUSP00000117393 Gene: ENSMUSG00000038611 AA Change: S244A
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: 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: ENSMUST00000156938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210506
|
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
C |
8: 44,022,941 (GRCm39) |
L183* |
probably null |
Het |
Alox12e |
G |
T |
11: 70,207,055 (GRCm39) |
Q584K |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,074,399 (GRCm39) |
S285P |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
Col25a1 |
A |
G |
3: 130,389,312 (GRCm39) |
T632A |
probably benign |
Het |
Coro6 |
T |
C |
11: 77,358,622 (GRCm39) |
F227S |
probably damaging |
Het |
Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,389,783 (GRCm39) |
D569G |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,167,104 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,064,800 (GRCm39) |
V508A |
probably damaging |
Het |
Edem1 |
T |
C |
6: 108,820,061 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,488,471 (GRCm39) |
D452G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,225,565 (GRCm39) |
R1539G |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,941,364 (GRCm39) |
S86G |
probably benign |
Het |
Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
Ltb4r1 |
A |
G |
14: 56,005,539 (GRCm39) |
N281D |
probably damaging |
Het |
Map7 |
T |
C |
10: 20,151,948 (GRCm39) |
S638P |
unknown |
Het |
Mical1 |
G |
A |
10: 41,362,075 (GRCm39) |
A934T |
probably benign |
Het |
Micu3 |
C |
A |
8: 40,807,341 (GRCm39) |
|
probably null |
Het |
Mmp24 |
T |
A |
2: 155,640,056 (GRCm39) |
Y129N |
probably damaging |
Het |
Mras |
A |
T |
9: 99,293,599 (GRCm39) |
Y14N |
probably damaging |
Het |
Msmo1 |
A |
T |
8: 65,175,523 (GRCm39) |
I169N |
probably damaging |
Het |
Mtrr |
G |
T |
13: 68,727,766 (GRCm39) |
T60K |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,230 (GRCm39) |
L180* |
probably null |
Het |
Or5p6 |
G |
T |
7: 107,631,360 (GRCm39) |
Y63* |
probably null |
Het |
Or7g30 |
T |
A |
9: 19,352,290 (GRCm39) |
I27N |
possibly damaging |
Het |
Pam |
A |
T |
1: 97,768,090 (GRCm39) |
C8* |
probably null |
Het |
Pkd1l2 |
T |
C |
8: 117,792,569 (GRCm39) |
T408A |
probably damaging |
Het |
Plch1 |
G |
T |
3: 63,615,162 (GRCm39) |
Q778K |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,719,417 (GRCm39) |
V499A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,492,849 (GRCm39) |
S3736I |
possibly damaging |
Het |
Serpinb13 |
T |
C |
1: 106,909,915 (GRCm39) |
F11L |
possibly damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Smcp |
A |
G |
3: 92,491,731 (GRCm39) |
C39R |
unknown |
Het |
Sox9 |
T |
A |
11: 112,674,685 (GRCm39) |
L161Q |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,805,811 (GRCm39) |
|
probably null |
Het |
Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
Tmem131l |
G |
T |
3: 83,833,435 (GRCm39) |
N809K |
probably damaging |
Het |
Tyk2 |
T |
C |
9: 21,032,908 (GRCm39) |
Y285C |
probably damaging |
Het |
Usp15 |
T |
A |
10: 123,011,804 (GRCm39) |
N98Y |
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 |
|
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 |
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'- TGGCAGTTCTTCCTGTGAGC -3'
(R):5'- ACTTCTGGAGGGTTCAGGTCAG -3'
Sequencing Primer
(F):5'- TTCCTGTGAGCGCCATGAGAG -3'
(R):5'- TCAGGCAAGACACTTACTTCTG -3'
|
Posted On |
2016-10-05 |