Incidental Mutation 'R6288:Phf21b'
| ID |
509248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf21b
|
| Ensembl Gene |
ENSMUSG00000016624 |
| Gene Name |
PHD finger protein 21B |
| Synonyms |
A730032D07Rik |
| MMRRC Submission |
044458-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84669582-84740250 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 84739272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016768]
[ENSMUST00000159939]
[ENSMUST00000162044]
|
| AlphaFold |
Q8C966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016768
|
| SMART Domains |
Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
| 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 |
probably benign
Transcript: ENSMUST00000159939
|
| SMART Domains |
Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
T |
11: 58,184,421 (GRCm39) |
D380Y |
probably damaging |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,549 (GRCm39) |
E274V |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,802,922 (GRCm39) |
L192P |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,208,434 (GRCm39) |
I624F |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,526,040 (GRCm39) |
K219E |
possibly damaging |
Het |
| Bean1 |
T |
A |
8: 104,937,622 (GRCm39) |
L33Q |
probably damaging |
Het |
| Cdhr17 |
T |
A |
5: 17,061,283 (GRCm39) |
C738S |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,766,718 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,945,462 (GRCm39) |
D884G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,122,227 (GRCm39) |
R707G |
probably benign |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp2d9 |
C |
T |
15: 82,340,616 (GRCm39) |
H422Y |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,044,344 (GRCm39) |
A382V |
probably benign |
Het |
| Fam151a |
A |
C |
4: 106,605,341 (GRCm39) |
T568P |
probably damaging |
Het |
| Fbln2 |
A |
T |
6: 91,210,263 (GRCm39) |
Y69F |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,092 (GRCm39) |
H1040L |
unknown |
Het |
| Gucy2g |
T |
C |
19: 55,215,945 (GRCm39) |
T476A |
probably benign |
Het |
| H3c7 |
A |
G |
13: 23,728,664 (GRCm39) |
T4A |
probably benign |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,519 (GRCm39) |
G75D |
probably benign |
Het |
| Inpp5b |
G |
A |
4: 124,679,020 (GRCm39) |
V476I |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,591 (GRCm39) |
L855Q |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,286 (GRCm39) |
I223V |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,226 (GRCm39) |
F98L |
probably benign |
Het |
| Pcolce2 |
T |
A |
9: 95,563,646 (GRCm39) |
Y211N |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,111 (GRCm39) |
E122G |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,030,772 (GRCm39) |
P1399S |
probably benign |
Het |
| Slc38a1 |
A |
G |
15: 96,484,759 (GRCm39) |
V267A |
probably benign |
Het |
| Sox11 |
A |
G |
12: 27,392,332 (GRCm39) |
F26L |
possibly damaging |
Het |
| Ssbp3 |
T |
A |
4: 106,903,277 (GRCm39) |
|
probably null |
Het |
| Trim12c |
C |
T |
7: 103,995,936 (GRCm39) |
V146I |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,748,802 (GRCm39) |
T1543K |
probably damaging |
Het |
| Zfp473 |
C |
A |
7: 44,382,958 (GRCm39) |
K457N |
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 |
|
|
R5476:Phf21b
|
UTSW |
15 |
84,671,466 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Posted On |
2018-04-02 |
Incidental Mutation