Incidental Mutation 'R6126:Phf20l1'
ID |
487418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf20l1
|
Ensembl Gene |
ENSMUSG00000072501 |
Gene Name |
PHD finger protein 20-like 1 |
Synonyms |
E130113K22Rik, CGI-72 |
MMRRC Submission |
044273-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R6126 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66508673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 844
(H844R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
AlphaFold |
Q8CCJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048188
AA Change: H844R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000035682 Gene: ENSMUSG00000072501 AA Change: H844R
Domain | Start | End | E-Value | Type |
TUDOR
|
11 |
71 |
7.67e0 |
SMART |
Agenet
|
11 |
73 |
3.53e0 |
SMART |
Agenet
|
85 |
141 |
4.54e-1 |
SMART |
TUDOR
|
85 |
141 |
5.75e-8 |
SMART |
Pfam:DUF3776
|
210 |
319 |
1.3e-31 |
PFAM |
Pfam:PHD20L1_u1
|
318 |
413 |
4.7e-47 |
PFAM |
low complexity region
|
443 |
453 |
N/A |
INTRINSIC |
low complexity region
|
530 |
543 |
N/A |
INTRINSIC |
low complexity region
|
547 |
585 |
N/A |
INTRINSIC |
low complexity region
|
598 |
608 |
N/A |
INTRINSIC |
low complexity region
|
642 |
658 |
N/A |
INTRINSIC |
PHD
|
683 |
727 |
8.45e-3 |
SMART |
low complexity region
|
879 |
887 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229033
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229160
AA Change: H843R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
AA Change: H817R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231177
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
93% (51/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
G |
A |
3: 89,963,881 (GRCm39) |
R111H |
probably damaging |
Het |
Alk |
G |
A |
17: 72,182,037 (GRCm39) |
L1329F |
possibly damaging |
Het |
Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,281,775 (GRCm39) |
M126I |
probably benign |
Het |
Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
Chd7 |
T |
C |
4: 8,826,482 (GRCm39) |
S949P |
probably damaging |
Het |
Clec11a |
C |
T |
7: 43,954,345 (GRCm39) |
A203T |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,267,264 (GRCm39) |
I5080K |
probably damaging |
Het |
Ecd |
T |
C |
14: 20,388,493 (GRCm39) |
|
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,014,318 (GRCm39) |
K638* |
probably null |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,141,443 (GRCm39) |
I272T |
probably damaging |
Het |
Foxd2 |
C |
A |
4: 114,765,702 (GRCm39) |
G106V |
unknown |
Het |
Ggcx |
A |
T |
6: 72,394,966 (GRCm39) |
M115L |
possibly damaging |
Het |
Gm21976 |
G |
A |
13: 98,423,821 (GRCm39) |
R72H |
unknown |
Het |
Hsf2 |
T |
C |
10: 57,372,013 (GRCm39) |
V38A |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,505,274 (GRCm39) |
Y8C |
possibly damaging |
Het |
Il31ra |
A |
C |
13: 112,666,908 (GRCm39) |
L390R |
probably damaging |
Het |
Kif1a |
A |
T |
1: 92,947,621 (GRCm39) |
Y1614N |
probably damaging |
Het |
Mef2b |
C |
A |
8: 70,619,526 (GRCm39) |
T267K |
probably benign |
Het |
Mfsd8 |
A |
G |
3: 40,786,446 (GRCm39) |
|
probably null |
Het |
Mnx1 |
G |
T |
5: 29,683,110 (GRCm39) |
A55E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,354,969 (GRCm39) |
I949F |
possibly damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Ntpcr |
G |
A |
8: 126,462,626 (GRCm39) |
|
probably null |
Het |
Or12j3 |
T |
G |
7: 139,953,166 (GRCm39) |
Y119S |
probably damaging |
Het |
Otx1 |
T |
C |
11: 21,946,457 (GRCm39) |
|
probably benign |
Het |
Panx1 |
T |
A |
9: 14,919,086 (GRCm39) |
I258F |
probably benign |
Het |
Pask |
T |
C |
1: 93,242,081 (GRCm39) |
Y1212C |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,331,190 (GRCm39) |
K265R |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,646,376 (GRCm39) |
T136A |
possibly damaging |
Het |
Rab35 |
A |
G |
5: 115,783,767 (GRCm39) |
N185D |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,599,083 (GRCm39) |
D188V |
probably damaging |
Het |
Rimbp3 |
A |
T |
16: 17,030,140 (GRCm39) |
D1188V |
probably benign |
Het |
Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
C |
7: 28,775,664 (GRCm39) |
D2282E |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,588,015 (GRCm39) |
L2642P |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,864,630 (GRCm39) |
Y530F |
probably damaging |
Het |
Slc12a2 |
A |
G |
18: 58,077,116 (GRCm39) |
Y1205C |
possibly damaging |
Het |
Slc4a5 |
A |
T |
6: 83,203,247 (GRCm39) |
H49L |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,677,280 (GRCm39) |
V1503D |
probably damaging |
Het |
Spata31e3 |
G |
T |
13: 50,400,326 (GRCm39) |
Q667K |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tex15 |
A |
G |
8: 34,063,591 (GRCm39) |
N1007S |
probably benign |
Het |
Tpk1 |
A |
T |
6: 43,400,594 (GRCm39) |
C143S |
probably damaging |
Het |
Wdr20 |
A |
T |
12: 110,760,536 (GRCm39) |
H474L |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,167,174 (GRCm39) |
|
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,808,497 (GRCm39) |
T1516A |
probably benign |
Het |
Zfp462 |
G |
A |
4: 55,023,573 (GRCm39) |
A2121T |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
Other mutations in Phf20l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Phf20l1
|
APN |
15 |
66,500,884 (GRCm39) |
missense |
probably benign |
0.28 |
IGL00484:Phf20l1
|
APN |
15 |
66,487,482 (GRCm39) |
splice site |
probably benign |
|
IGL00668:Phf20l1
|
APN |
15 |
66,504,698 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00849:Phf20l1
|
APN |
15 |
66,508,681 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00954:Phf20l1
|
APN |
15 |
66,513,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01025:Phf20l1
|
APN |
15 |
66,484,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01504:Phf20l1
|
APN |
15 |
66,469,540 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02087:Phf20l1
|
APN |
15 |
66,500,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02273:Phf20l1
|
APN |
15 |
66,511,874 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02276:Phf20l1
|
APN |
15 |
66,487,259 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02372:Phf20l1
|
APN |
15 |
66,513,650 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02589:Phf20l1
|
APN |
15 |
66,487,481 (GRCm39) |
splice site |
probably benign |
|
IGL02656:Phf20l1
|
APN |
15 |
66,501,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:Phf20l1
|
APN |
15 |
66,476,713 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02881:Phf20l1
|
APN |
15 |
66,466,829 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02940:Phf20l1
|
APN |
15 |
66,467,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Phf20l1
|
APN |
15 |
66,466,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Phf20l1
|
APN |
15 |
66,513,796 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03034:Phf20l1
|
APN |
15 |
66,469,252 (GRCm39) |
missense |
probably damaging |
1.00 |
Abbreviated
|
UTSW |
15 |
66,504,752 (GRCm39) |
critical splice donor site |
probably null |
|
acadia
|
UTSW |
15 |
66,508,669 (GRCm39) |
missense |
possibly damaging |
0.85 |
curt
|
UTSW |
15 |
66,511,797 (GRCm39) |
missense |
possibly damaging |
0.90 |
Cut
|
UTSW |
15 |
66,484,888 (GRCm39) |
nonsense |
probably null |
|
shorthand
|
UTSW |
15 |
66,481,396 (GRCm39) |
missense |
probably damaging |
1.00 |
slang
|
UTSW |
15 |
66,513,781 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4305001:Phf20l1
|
UTSW |
15 |
66,484,901 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0070:Phf20l1
|
UTSW |
15 |
66,511,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Phf20l1
|
UTSW |
15 |
66,511,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R0562:Phf20l1
|
UTSW |
15 |
66,481,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Phf20l1
|
UTSW |
15 |
66,466,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Phf20l1
|
UTSW |
15 |
66,487,479 (GRCm39) |
splice site |
probably benign |
|
R1458:Phf20l1
|
UTSW |
15 |
66,476,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R1619:Phf20l1
|
UTSW |
15 |
66,487,108 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1781:Phf20l1
|
UTSW |
15 |
66,504,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Phf20l1
|
UTSW |
15 |
66,466,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R3973:Phf20l1
|
UTSW |
15 |
66,513,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R4374:Phf20l1
|
UTSW |
15 |
66,476,686 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4375:Phf20l1
|
UTSW |
15 |
66,487,071 (GRCm39) |
missense |
probably benign |
0.00 |
R4554:Phf20l1
|
UTSW |
15 |
66,469,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R4913:Phf20l1
|
UTSW |
15 |
66,476,704 (GRCm39) |
missense |
probably benign |
0.03 |
R5092:Phf20l1
|
UTSW |
15 |
66,508,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5491:Phf20l1
|
UTSW |
15 |
66,487,634 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5713:Phf20l1
|
UTSW |
15 |
66,508,669 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6213:Phf20l1
|
UTSW |
15 |
66,504,752 (GRCm39) |
critical splice donor site |
probably null |
|
R6569:Phf20l1
|
UTSW |
15 |
66,501,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Phf20l1
|
UTSW |
15 |
66,481,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R6808:Phf20l1
|
UTSW |
15 |
66,502,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Phf20l1
|
UTSW |
15 |
66,476,689 (GRCm39) |
missense |
probably benign |
0.01 |
R7208:Phf20l1
|
UTSW |
15 |
66,476,638 (GRCm39) |
missense |
probably benign |
0.05 |
R7436:Phf20l1
|
UTSW |
15 |
66,469,599 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7466:Phf20l1
|
UTSW |
15 |
66,508,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Phf20l1
|
UTSW |
15 |
66,475,933 (GRCm39) |
missense |
probably benign |
0.02 |
R7863:Phf20l1
|
UTSW |
15 |
66,487,084 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7991:Phf20l1
|
UTSW |
15 |
66,502,768 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8015:Phf20l1
|
UTSW |
15 |
66,511,797 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8161:Phf20l1
|
UTSW |
15 |
66,475,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R8228:Phf20l1
|
UTSW |
15 |
66,511,789 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8857:Phf20l1
|
UTSW |
15 |
66,513,781 (GRCm39) |
missense |
probably benign |
0.03 |
R9295:Phf20l1
|
UTSW |
15 |
66,513,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R9393:Phf20l1
|
UTSW |
15 |
66,475,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Phf20l1
|
UTSW |
15 |
66,484,888 (GRCm39) |
nonsense |
probably null |
|
R9522:Phf20l1
|
UTSW |
15 |
66,504,669 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9727:Phf20l1
|
UTSW |
15 |
66,487,231 (GRCm39) |
missense |
probably benign |
0.01 |
X0065:Phf20l1
|
UTSW |
15 |
66,501,655 (GRCm39) |
nonsense |
probably null |
|
X0065:Phf20l1
|
UTSW |
15 |
66,469,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACAACTTCGTCTTTGATCCTG -3'
(R):5'- TTATCTGGCACACGGAGCTC -3'
Sequencing Primer
(F):5'- ACCACAATTTTTAGCGTGTTGC -3'
(R):5'- GGAGCTCCCCATCTTCTTCAAAAC -3'
|
Posted On |
2017-10-10 |