Incidental Mutation 'R6179:Phf20'
| ID |
487919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| MMRRC Submission |
044321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6179 (G1)
|
| Quality Score |
112.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156140573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 749
(L749H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037401
AA Change: L749H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: L749H
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
11 |
71 |
5.27e0 |
SMART |
|
TUDOR
|
85 |
141 |
7.13e-4 |
SMART |
|
AT_hook
|
257 |
269 |
1.65e0 |
SMART |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
455 |
480 |
1.86e0 |
SMART |
|
low complexity region
|
486 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
PHD
|
657 |
701 |
2.83e-4 |
SMART |
|
coiled coil region
|
945 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,653 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
C |
6: 91,919,311 (GRCm39) |
S657P |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,025,080 (GRCm39) |
I988V |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,270,662 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
T |
A |
12: 8,055,060 (GRCm39) |
L1353* |
probably null |
Het |
| Atp2b1 |
C |
T |
10: 98,858,691 (GRCm39) |
R222C |
probably damaging |
Het |
| AW209491 |
T |
G |
13: 14,811,668 (GRCm39) |
S174A |
possibly damaging |
Het |
| B930094E09Rik |
G |
C |
18: 31,742,911 (GRCm39) |
|
probably benign |
Het |
| Cbln3 |
G |
T |
14: 56,121,517 (GRCm39) |
P43Q |
possibly damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,487 (GRCm39) |
T57S |
probably benign |
Het |
| Ccr2 |
A |
C |
9: 123,906,008 (GRCm39) |
N96T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,956,837 (GRCm39) |
I868V |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,094,071 (GRCm39) |
I1535T |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,204 (GRCm39) |
T377S |
probably benign |
Het |
| Cpeb3 |
A |
G |
19: 37,065,853 (GRCm39) |
F439L |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,269 (GRCm39) |
V399A |
probably damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,187 (GRCm39) |
G329R |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,781,868 (GRCm39) |
E691G |
probably benign |
Het |
| Edil3 |
A |
T |
13: 88,970,108 (GRCm39) |
H3L |
probably benign |
Het |
| Endod1 |
T |
C |
9: 14,268,757 (GRCm39) |
I243V |
probably benign |
Het |
| Fpr3 |
G |
A |
17: 18,190,919 (GRCm39) |
W63* |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,753,158 (GRCm39) |
N424K |
possibly damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,783,192 (GRCm39) |
V252M |
probably damaging |
Het |
| Kifbp |
G |
A |
10: 62,399,029 (GRCm39) |
Q130* |
probably null |
Het |
| Lmbrd2 |
T |
G |
15: 9,149,262 (GRCm39) |
I48M |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 158,059,069 (GRCm39) |
I13L |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,822,386 (GRCm39) |
S408P |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,028,529 (GRCm39) |
V542A |
possibly damaging |
Het |
| Msto1 |
C |
A |
3: 88,818,254 (GRCm39) |
R331L |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,979 (GRCm39) |
E1425K |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,554,437 (GRCm39) |
I340T |
probably benign |
Het |
| Or1j4 |
T |
C |
2: 36,740,846 (GRCm39) |
S263P |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,669 (GRCm39) |
M884K |
probably damaging |
Het |
| Pigp |
T |
C |
16: 94,171,226 (GRCm39) |
R22G |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,824 (GRCm39) |
M200T |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,580,471 (GRCm39) |
D668E |
unknown |
Het |
| Prss3 |
G |
A |
6: 41,352,060 (GRCm39) |
R68C |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,994,721 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,006,630 (GRCm39) |
F2116L |
possibly damaging |
Het |
| Spg21 |
T |
C |
9: 65,376,090 (GRCm39) |
S33P |
possibly damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,349 (GRCm39) |
S432P |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,452 (GRCm39) |
E27G |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,320 (GRCm39) |
Q1468R |
probably benign |
Het |
| Tbce |
T |
G |
13: 14,194,362 (GRCm39) |
E99A |
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,923 (GRCm39) |
T380A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,220,501 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,491,003 (GRCm39) |
Q415* |
probably null |
Het |
| Vwf |
G |
A |
6: 125,626,252 (GRCm39) |
C7Y |
unknown |
Het |
| Yeats2 |
C |
T |
16: 20,033,225 (GRCm39) |
P1088L |
probably benign |
Het |
| Zfp40 |
C |
A |
17: 23,397,354 (GRCm39) |
V48L |
possibly damaging |
Het |
|
| Other mutations in Phf20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Phf20
|
APN |
2 |
156,146,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01071:Phf20
|
APN |
2 |
156,136,008 (GRCm39) |
splice site |
probably null |
|
|
IGL01125:Phf20
|
APN |
2 |
156,145,104 (GRCm39) |
splice site |
probably null |
|
|
IGL01608:Phf20
|
APN |
2 |
156,118,516 (GRCm39) |
missense |
probably benign |
|
|
IGL01610:Phf20
|
APN |
2 |
156,144,809 (GRCm39) |
nonsense |
probably null |
|
|
IGL01845:Phf20
|
APN |
2 |
156,118,577 (GRCm39) |
nonsense |
probably null |
|
|
IGL02364:Phf20
|
APN |
2 |
156,136,017 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02692:Phf20
|
APN |
2 |
156,140,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Phf20
|
APN |
2 |
156,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Phf20
|
UTSW |
2 |
156,109,114 (GRCm39) |
nonsense |
probably null |
|
|
R0189:Phf20
|
UTSW |
2 |
156,145,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1532:Phf20
|
UTSW |
2 |
156,144,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1572:Phf20
|
UTSW |
2 |
156,129,754 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2007:Phf20
|
UTSW |
2 |
156,129,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2191:Phf20
|
UTSW |
2 |
156,118,574 (GRCm39) |
missense |
probably benign |
|
|
R3011:Phf20
|
UTSW |
2 |
156,129,946 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3024:Phf20
|
UTSW |
2 |
156,129,787 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4242:Phf20
|
UTSW |
2 |
156,149,374 (GRCm39) |
unclassified |
probably benign |
|
|
R5053:Phf20
|
UTSW |
2 |
156,115,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Phf20
|
UTSW |
2 |
156,144,782 (GRCm39) |
missense |
probably benign |
|
|
R5382:Phf20
|
UTSW |
2 |
156,109,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Phf20
|
UTSW |
2 |
156,093,688 (GRCm39) |
splice site |
probably null |
|
|
R5707:Phf20
|
UTSW |
2 |
156,138,691 (GRCm39) |
splice site |
probably null |
|
|
R5751:Phf20
|
UTSW |
2 |
156,109,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5805:Phf20
|
UTSW |
2 |
156,149,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5988:Phf20
|
UTSW |
2 |
156,149,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Phf20
|
UTSW |
2 |
156,065,320 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6338:Phf20
|
UTSW |
2 |
156,115,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6351:Phf20
|
UTSW |
2 |
156,136,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6584:Phf20
|
UTSW |
2 |
156,136,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7248:Phf20
|
UTSW |
2 |
156,135,331 (GRCm39) |
splice site |
probably null |
|
|
R7329:Phf20
|
UTSW |
2 |
156,146,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7387:Phf20
|
UTSW |
2 |
156,136,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Phf20
|
UTSW |
2 |
156,144,928 (GRCm39) |
nonsense |
probably null |
|
|
R7603:Phf20
|
UTSW |
2 |
156,144,771 (GRCm39) |
missense |
probably benign |
|
|
R7698:Phf20
|
UTSW |
2 |
156,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Phf20
|
UTSW |
2 |
156,129,858 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7968:Phf20
|
UTSW |
2 |
156,135,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Phf20
|
UTSW |
2 |
156,129,913 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8843:Phf20
|
UTSW |
2 |
156,144,843 (GRCm39) |
missense |
probably benign |
|
|
R8849:Phf20
|
UTSW |
2 |
156,118,440 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9168:Phf20
|
UTSW |
2 |
156,109,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9180:Phf20
|
UTSW |
2 |
156,114,537 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9286:Phf20
|
UTSW |
2 |
156,134,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9297:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
|
R9318:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
|
R9414:Phf20
|
UTSW |
2 |
156,136,167 (GRCm39) |
missense |
probably benign |
0.38 |
|
RF011:Phf20
|
UTSW |
2 |
156,146,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF011:Phf20
|
UTSW |
2 |
156,146,540 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF028:Phf20
|
UTSW |
2 |
156,146,543 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1190:Phf20
|
UTSW |
2 |
156,129,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACAGAATGAGCACAGCC -3'
(R):5'- AGTAACAGATTTTGTGGTACAGGTC -3'
Sequencing Primer
(F):5'- ACAGCCTGGGTTCCTCAG -3'
(R):5'- ACAGGTCTTTGTGGCTTTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation