Incidental Mutation 'R0561:Phrf1'
| ID |
45875 |
| 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 # |
R0561 (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 C
at 140834876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 17
(V17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000132540]
[ENSMUST00000155123]
|
| AlphaFold |
A6H619 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000106027
AA Change: V377A
|
| SMART Domains |
Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: V377A
| 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: V218A
|
| SMART Domains |
Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: V218A
| 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: ENSMUST00000132540
AA Change: V17A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
| Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
| Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
| Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
| Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
| Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
| Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
| Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
| Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
| Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
| Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
| Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
| Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
| Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
| Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
| Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
| Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
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 |
|
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 |
|
|
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'- CTGCTCCAACAGAATTCAGAGGACC -3'
(R):5'- ATCTGCTCCTAGCACAGGACTGAC -3'
Sequencing Primer
(F):5'- CTGGTCACCCTAGTCAGAAAGG -3'
(R):5'- agccatctctccagccc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation