Incidental Mutation 'R9561:Phrf1'
| ID |
721010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phrf1
|
| Ensembl Gene |
ENSMUSG00000038611 |
| Gene Name |
PHD and ring finger domains 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140808697-140842663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140834815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 198
(S198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000132540]
[ENSMUST00000155123]
|
| AlphaFold |
A6H619 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000106027
AA Change: S357A
|
| SMART Domains |
Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: S357A
| 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: S198A
|
| SMART Domains |
Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: S198A
| 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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,680,980 (GRCm39) |
I106V |
possibly damaging |
Het |
| Aars1 |
C |
A |
8: 111,763,615 (GRCm39) |
F18L |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,837,535 (GRCm39) |
T473I |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,524 (GRCm39) |
I384N |
probably damaging |
Het |
| Atg16l2 |
G |
A |
7: 100,948,248 (GRCm39) |
Q99* |
probably null |
Het |
| Bptf |
A |
T |
11: 106,964,954 (GRCm39) |
Y1413* |
probably null |
Het |
| Cat |
T |
C |
2: 103,307,250 (GRCm39) |
T28A |
probably damaging |
Het |
| Ccdc65 |
T |
A |
15: 98,620,759 (GRCm39) |
V418D |
probably benign |
Het |
| Cd226 |
A |
C |
18: 89,265,444 (GRCm39) |
I241L |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,873,428 (GRCm39) |
S1227P |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,842,794 (GRCm39) |
A78T |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,652 (GRCm39) |
H305L |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,706,707 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dguok |
A |
G |
6: 83,467,548 (GRCm39) |
Y100H |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,615,533 (GRCm39) |
S2955R |
probably damaging |
Het |
| Etfbkmt |
A |
T |
6: 149,045,640 (GRCm39) |
|
probably benign |
Het |
| Fam222a |
T |
A |
5: 114,749,347 (GRCm39) |
I181N |
probably damaging |
Het |
| Fam24b |
T |
C |
7: 130,927,877 (GRCm39) |
D104G |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,181,611 (GRCm39) |
C1883* |
probably null |
Het |
| Fchsd2 |
T |
G |
7: 100,920,778 (GRCm39) |
L461R |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,472,532 (GRCm39) |
R2756Q |
possibly damaging |
Het |
| Ints14 |
A |
G |
9: 64,882,932 (GRCm39) |
D261G |
probably damaging |
Het |
| Mapkapk5 |
C |
T |
5: 121,672,490 (GRCm39) |
A163T |
probably benign |
Het |
| Micu3 |
A |
T |
8: 40,835,156 (GRCm39) |
K504* |
probably null |
Het |
| Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
| Myh7 |
C |
A |
14: 55,216,146 (GRCm39) |
R1289L |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,132,068 (GRCm39) |
H280Q |
|
Het |
| Nrbp1 |
T |
A |
5: 31,404,771 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
A |
18: 65,831,414 (GRCm39) |
V17D |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,480,157 (GRCm39) |
R463L |
possibly damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,725 (GRCm39) |
L155Q |
probably damaging |
Het |
| Or8b40 |
G |
A |
9: 38,028,010 (GRCm39) |
S311N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,217,128 (GRCm39) |
C2184* |
probably null |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Plekhg2 |
C |
G |
7: 28,064,249 (GRCm39) |
A431P |
probably damaging |
Het |
| Ppp1r13b |
C |
T |
12: 111,810,077 (GRCm39) |
D244N |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,564,887 (GRCm39) |
E200G |
possibly damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,936 (GRCm39) |
S361P |
probably benign |
Het |
| Scgb2b19 |
G |
A |
7: 32,978,039 (GRCm39) |
A86V |
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,408,728 (GRCm39) |
C138S |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,606 (GRCm39) |
S511P |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,175 (GRCm39) |
S207P |
probably damaging |
Het |
| Tdpoz1 |
A |
T |
3: 93,578,540 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,578,414 (GRCm39) |
K289E |
probably damaging |
Het |
| Vmn1r18 |
A |
C |
6: 57,367,202 (GRCm39) |
N117K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,872,794 (GRCm39) |
G3270V |
probably damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,187 (GRCm39) |
T358A |
probably benign |
Het |
| Wwc1 |
A |
C |
11: 35,870,796 (GRCm39) |
|
probably null |
Het |
| Yars2 |
G |
T |
16: 16,127,242 (GRCm39) |
V436L |
possibly damaging |
Het |
| Zfp609 |
G |
A |
9: 65,604,512 (GRCm39) |
Q1324* |
probably null |
Het |
| Zfp81 |
T |
C |
17: 33,553,774 (GRCm39) |
T347A |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,021,366 (GRCm39) |
V292A |
probably benign |
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 |
|
|
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 |
|
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'- AGCACACAGTCCTGAGGTAC -3'
(R):5'- TCTCCAGAGGACCTAGAAGCATAC -3'
Sequencing Primer
(F):5'- AGTCCTGAGGTACCCAGAC -3'
(R):5'- TACCCACCTCTGAGCTGCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation