Incidental Mutation 'IGL01472:Phrf1'
| ID |
88334 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 140836403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000132540]
[ENSMUST00000155123]
|
| AlphaFold |
A6H619 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106027
|
| SMART Domains |
Protein: ENSMUSP00000101648
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 |
|
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 benign
Transcript: ENSMUST00000122143
|
| SMART Domains |
Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
| 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
G |
A |
7: 119,153,759 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,419 (GRCm39) |
F324S |
probably damaging |
Het |
| Alg10b |
T |
A |
15: 90,111,900 (GRCm39) |
L248Q |
possibly damaging |
Het |
| Antxr2 |
T |
A |
5: 98,175,358 (GRCm39) |
T90S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,854,392 (GRCm39) |
E1657K |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,094,175 (GRCm39) |
D803A |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,159,795 (GRCm39) |
D185G |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,950 (GRCm39) |
S62P |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,861,477 (GRCm39) |
Q599R |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,309,439 (GRCm39) |
V231I |
probably damaging |
Het |
| Cnbd2 |
C |
T |
2: 156,217,268 (GRCm39) |
R457W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,649,625 (GRCm39) |
T1036A |
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,382,629 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,732,104 (GRCm39) |
Y237* |
probably null |
Het |
| Cpne9 |
C |
A |
6: 113,269,983 (GRCm39) |
S281Y |
possibly damaging |
Het |
| D830013O20Rik |
G |
A |
12: 73,411,090 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
| Fam228a |
A |
G |
12: 4,765,610 (GRCm39) |
I267T |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,219 (GRCm39) |
A371T |
probably damaging |
Het |
| Gm1818 |
T |
C |
12: 48,603,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
T |
C |
7: 40,935,498 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,361,642 (GRCm39) |
L207I |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,250,226 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,396,150 (GRCm39) |
E35K |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,455,216 (GRCm39) |
I194V |
probably benign |
Het |
| Ism1 |
A |
T |
2: 139,599,223 (GRCm39) |
T392S |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,027,376 (GRCm39) |
Y313C |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,585,988 (GRCm39) |
C718R |
probably damaging |
Het |
| Lyar |
T |
G |
5: 38,382,066 (GRCm39) |
I16R |
possibly damaging |
Het |
| Map3k20 |
T |
C |
2: 72,185,897 (GRCm39) |
|
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,455,449 (GRCm39) |
T941A |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,179,205 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,524 (GRCm39) |
D1482G |
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,071,133 (GRCm39) |
A534D |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,940,986 (GRCm39) |
V269A |
probably damaging |
Het |
| Odf2 |
T |
A |
2: 29,783,071 (GRCm39) |
S5T |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,322 (GRCm39) |
T135S |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,411 (GRCm39) |
S137P |
probably benign |
Het |
| Or9s27 |
T |
A |
1: 92,516,694 (GRCm39) |
M214K |
possibly damaging |
Het |
| Pbk |
A |
G |
14: 66,054,159 (GRCm39) |
T235A |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,374,802 (GRCm39) |
Y578F |
probably benign |
Het |
| Prph |
T |
C |
15: 98,956,474 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,502,593 (GRCm39) |
V3527A |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,141,652 (GRCm39) |
L244P |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,706,521 (GRCm39) |
V96A |
probably benign |
Het |
| Tbc1d4 |
C |
A |
14: 101,727,300 (GRCm39) |
E504* |
probably null |
Het |
| Tmed3 |
T |
C |
9: 89,584,928 (GRCm39) |
E109G |
probably benign |
Het |
| Tnc |
C |
T |
4: 63,924,656 (GRCm39) |
R1014H |
probably benign |
Het |
| Tpcn2 |
C |
T |
7: 144,821,115 (GRCm39) |
R313Q |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,835,381 (GRCm39) |
T455A |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,525,908 (GRCm39) |
I313T |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,159 (GRCm39) |
I86K |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,364,180 (GRCm39) |
E579* |
probably null |
Het |
| Wrn |
T |
A |
8: 33,819,200 (GRCm39) |
I8F |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,396 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,323,117 (GRCm39) |
H876Q |
probably benign |
Het |
| Znrf2 |
C |
T |
6: 54,840,957 (GRCm39) |
T177I |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation