Incidental Mutation 'R5476:Phf21b'
| ID |
434095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf21b
|
| Ensembl Gene |
ENSMUSG00000016624 |
| Gene Name |
PHD finger protein 21B |
| Synonyms |
A730032D07Rik |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84669582-84740250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84671466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 476
(M476T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016768]
[ENSMUST00000159939]
[ENSMUST00000162044]
|
| AlphaFold |
Q8C966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016768
AA Change: M464T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: M464T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
|
PHD
|
297 |
340 |
6.64e-10 |
SMART |
|
coiled coil region
|
368 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159939
AA Change: M476T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: M476T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
PHD
|
309 |
352 |
6.64e-10 |
SMART |
|
coiled coil region
|
380 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162044
|
| SMART Domains |
Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162996
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Phf21b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01785:Phf21b
|
APN |
15 |
84,692,262 (GRCm39) |
splice site |
probably benign |
|
|
IGL02311:Phf21b
|
APN |
15 |
84,678,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02700:Phf21b
|
APN |
15 |
84,687,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03201:Phf21b
|
APN |
15 |
84,671,448 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0113:Phf21b
|
UTSW |
15 |
84,688,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Phf21b
|
UTSW |
15 |
84,689,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1464:Phf21b
|
UTSW |
15 |
84,689,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Phf21b
|
UTSW |
15 |
84,681,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Phf21b
|
UTSW |
15 |
84,681,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Phf21b
|
UTSW |
15 |
84,738,963 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3683:Phf21b
|
UTSW |
15 |
84,682,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Phf21b
|
UTSW |
15 |
84,738,942 (GRCm39) |
nonsense |
probably null |
|
|
R5526:Phf21b
|
UTSW |
15 |
84,676,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5659:Phf21b
|
UTSW |
15 |
84,678,101 (GRCm39) |
nonsense |
probably null |
|
|
R6208:Phf21b
|
UTSW |
15 |
84,679,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6281:Phf21b
|
UTSW |
15 |
84,738,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6288:Phf21b
|
UTSW |
15 |
84,739,272 (GRCm39) |
intron |
probably benign |
|
|
R6322:Phf21b
|
UTSW |
15 |
84,671,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6875:Phf21b
|
UTSW |
15 |
84,671,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Phf21b
|
UTSW |
15 |
84,676,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Phf21b
|
UTSW |
15 |
84,739,918 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R7331:Phf21b
|
UTSW |
15 |
84,675,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7439:Phf21b
|
UTSW |
15 |
84,689,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Phf21b
|
UTSW |
15 |
84,689,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7949:Phf21b
|
UTSW |
15 |
84,676,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Phf21b
|
UTSW |
15 |
84,671,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9458:Phf21b
|
UTSW |
15 |
84,738,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9468:Phf21b
|
UTSW |
15 |
84,689,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGGCTCTAGGACACTCATC -3'
(R):5'- TCTGCCCTCGACAGAAATGC -3'
Sequencing Primer
(F):5'- GGCTCTAGGACACTCATCTCACTC -3'
(R):5'- CTTGGAGCTGAAGACAAGCCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation