Incidental Mutation 'R6281:Phf21b'
| ID |
507974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf21b
|
| Ensembl Gene |
ENSMUSG00000016624 |
| Gene Name |
PHD finger protein 21B |
| Synonyms |
A730032D07Rik |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84669582-84740250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84738946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 38
(D38E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016768]
[ENSMUST00000159939]
[ENSMUST00000162044]
|
| AlphaFold |
Q8C966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016768
AA Change: D26E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: D26E
| 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
AA Change: D38E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: D38E
| 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
AA Change: D38E
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624
AA Change: D38E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0658 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,114 (GRCm39) |
M939R |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
probably benign |
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 |
|
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'- ATGTCCACCGCTCAAGATGG -3'
(R):5'- AAAGCGGTCCCGGAAAGTTG -3'
Sequencing Primer
(F):5'- AAGGTACGGCGCAGATCTTTG -3'
(R):5'- TCCCGGAAAGTTGGGGCG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation