Incidental Mutation 'R8748:Phrf1'
ID |
663649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phrf1
|
Ensembl Gene |
ENSMUSG00000038611 |
Gene Name |
PHD and ring finger domains 1 |
Synonyms |
|
MMRRC Submission |
068591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8748 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140838148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 448
(S448P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026571]
[ENSMUST00000097952]
[ENSMUST00000106023]
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000132540]
[ENSMUST00000155123]
[ENSMUST00000209899]
|
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 |
unknown
Transcript: ENSMUST00000106027
AA Change: S607P
|
SMART Domains |
Protein: ENSMUSP00000101648 Gene: ENSMUSG00000038611 AA Change: S607P
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: S448P
|
SMART Domains |
Protein: ENSMUSP00000113195 Gene: ENSMUSG00000038611 AA Change: S448P
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 |
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: ENSMUST00000132540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142572
|
SMART Domains |
Protein: ENSMUSP00000117393 Gene: ENSMUSG00000038611
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 |
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: ENSMUST00000209899
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,836,597 (GRCm39) |
F1233I |
probably damaging |
Het |
Acte1 |
T |
C |
7: 143,445,556 (GRCm39) |
I201T |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,532,026 (GRCm39) |
I87T |
|
Het |
Atr |
A |
G |
9: 95,814,476 (GRCm39) |
M2058V |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Bscl2 |
A |
G |
19: 8,825,311 (GRCm39) |
E365G |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,608,634 (GRCm39) |
S77R |
probably benign |
Het |
Ccdc91 |
T |
C |
6: 147,464,194 (GRCm39) |
I214T |
unknown |
Het |
Chpf2 |
T |
C |
5: 24,796,821 (GRCm39) |
F589S |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,226,229 (GRCm39) |
Y2953F |
probably damaging |
Het |
Cts8 |
A |
T |
13: 61,397,086 (GRCm39) |
V278D |
probably damaging |
Het |
Cyp20a1 |
T |
C |
1: 60,392,181 (GRCm39) |
V79A |
probably damaging |
Het |
Dach1 |
G |
A |
14: 98,065,770 (GRCm39) |
Q686* |
probably null |
Het |
Daxx |
A |
G |
17: 34,131,138 (GRCm39) |
D355G |
probably damaging |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Eif4ebp2 |
A |
T |
10: 61,270,806 (GRCm39) |
H74Q |
probably benign |
Het |
Exoc3l |
T |
C |
8: 106,016,777 (GRCm39) |
D679G |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,378,516 (GRCm39) |
W349R |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,834,161 (GRCm39) |
Y4144N |
possibly damaging |
Het |
Gm37240 |
A |
G |
3: 84,405,045 (GRCm39) |
*253Q |
probably null |
Het |
Hycc1 |
T |
A |
5: 24,170,320 (GRCm39) |
D343V |
probably benign |
Het |
Ildr1 |
A |
C |
16: 36,542,734 (GRCm39) |
E422A |
probably benign |
Het |
Itsn2 |
A |
G |
12: 4,751,337 (GRCm39) |
E1309G |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,368,068 (GRCm39) |
D2231G |
probably benign |
Het |
Mtnr1a |
T |
C |
8: 45,538,675 (GRCm39) |
S38P |
probably benign |
Het |
Or10d3 |
C |
G |
9: 39,461,711 (GRCm39) |
G152A |
possibly damaging |
Het |
Or10d3 |
C |
A |
9: 39,461,712 (GRCm39) |
G152* |
probably null |
Het |
Or10v5 |
A |
G |
19: 11,805,596 (GRCm39) |
S265P |
probably damaging |
Het |
Or11h6 |
G |
T |
14: 50,880,211 (GRCm39) |
V152F |
probably benign |
Het |
Pate13 |
A |
C |
9: 35,820,351 (GRCm39) |
D25A |
probably damaging |
Het |
Pcdhb9 |
G |
A |
18: 37,535,901 (GRCm39) |
G632S |
probably damaging |
Het |
Pgr |
C |
A |
9: 8,958,449 (GRCm39) |
L819I |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,971,695 (GRCm39) |
M471T |
probably benign |
Het |
Postn |
A |
G |
3: 54,296,760 (GRCm39) |
D758G |
probably damaging |
Het |
Rbmyf9 |
T |
A |
Y: 3,774,915 (GRCm39) |
|
probably null |
Het |
Rpl3 |
T |
C |
15: 79,963,902 (GRCm39) |
I280V |
probably benign |
Het |
Rtl1 |
A |
T |
12: 109,561,492 (GRCm39) |
S116T |
probably benign |
Het |
Six5 |
A |
G |
7: 18,829,049 (GRCm39) |
H163R |
probably benign |
Het |
Smarca4 |
A |
G |
9: 21,546,164 (GRCm39) |
D114G |
possibly damaging |
Het |
Tex46 |
C |
T |
4: 136,337,808 (GRCm39) |
|
probably benign |
Het |
Tmem144 |
A |
G |
3: 79,743,539 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,186,453 (GRCm39) |
T617A |
probably benign |
Het |
Vmn1r74 |
T |
A |
7: 11,580,903 (GRCm39) |
S68T |
probably benign |
Het |
Zfp184 |
G |
A |
13: 22,144,217 (GRCm39) |
R641Q |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,319,419 (GRCm39) |
R531H |
probably benign |
Het |
Zfp764 |
T |
C |
7: 127,003,862 (GRCm39) |
E423G |
possibly 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 |
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 |
|
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'- CTCAATCCAGAGAAGAGTCCAGG -3'
(R):5'- TCCTGGGTAGCTTGGAGAAATC -3'
Sequencing Primer
(F):5'- GAGTCCAGGCTCAGAGACAAC -3'
(R):5'- GAGGAAGCCCAGAAGCTGTATTTTTC -3'
|
Posted On |
2021-03-08 |