Incidental Mutation 'R3039:Phf19'
| ID |
264892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf19
|
| Ensembl Gene |
ENSMUSG00000026873 |
| Gene Name |
PHD finger protein 19 |
| Synonyms |
3321402G02Rik, 3110009G19Rik |
| MMRRC Submission |
040555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3039 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34783769-34804038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34795534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028232]
[ENSMUST00000202907]
|
| AlphaFold |
Q9CXG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028232
AA Change: E179G
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: E179G
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
36 |
93 |
2.33e-8 |
SMART |
|
PHD
|
96 |
147 |
2.87e-5 |
SMART |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
PHD
|
195 |
245 |
2.11e-3 |
SMART |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
464 |
N/A |
INTRINSIC |
|
Pfam:Mtf2_C
|
529 |
576 |
5.2e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202907
|
| SMART Domains |
Protein: ENSMUSP00000143954
Gene: ENSMUSG00000026873
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
36 |
88 |
2.8e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,830,797 (GRCm39) |
K64N |
unknown |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,317 (GRCm39) |
N228D |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,877,003 (GRCm39) |
S143P |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,228,758 (GRCm39) |
V2110A |
probably benign |
Het |
| Dusp29 |
A |
G |
14: 21,752,975 (GRCm39) |
V57A |
probably damaging |
Het |
| Gpat3 |
T |
C |
5: 101,045,671 (GRCm39) |
S432P |
possibly damaging |
Het |
| Lgi4 |
C |
T |
7: 30,759,492 (GRCm39) |
A16V |
probably benign |
Het |
| Nsmce1 |
T |
C |
7: 125,070,328 (GRCm39) |
E161G |
probably damaging |
Het |
| Pdgfa |
A |
G |
5: 138,972,114 (GRCm39) |
V95A |
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,925,547 (GRCm39) |
Y221H |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,744 (GRCm39) |
S4369P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,687,428 (GRCm39) |
I201T |
possibly damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
| Other mutations in Phf19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01528:Phf19
|
APN |
2 |
34,787,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01862:Phf19
|
APN |
2 |
34,787,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0079:Phf19
|
UTSW |
2 |
34,785,966 (GRCm39) |
missense |
probably benign |
|
|
R0183:Phf19
|
UTSW |
2 |
34,801,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1289:Phf19
|
UTSW |
2 |
34,786,042 (GRCm39) |
missense |
probably benign |
|
|
R1632:Phf19
|
UTSW |
2 |
34,801,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Phf19
|
UTSW |
2 |
34,801,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2057:Phf19
|
UTSW |
2 |
34,789,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2475:Phf19
|
UTSW |
2 |
34,785,807 (GRCm39) |
missense |
probably benign |
|
|
R3803:Phf19
|
UTSW |
2 |
34,789,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3804:Phf19
|
UTSW |
2 |
34,789,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4885:Phf19
|
UTSW |
2 |
34,789,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5759:Phf19
|
UTSW |
2 |
34,787,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Phf19
|
UTSW |
2 |
34,787,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6949:Phf19
|
UTSW |
2 |
34,794,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Phf19
|
UTSW |
2 |
34,788,724 (GRCm39) |
splice site |
probably null |
|
|
R7730:Phf19
|
UTSW |
2 |
34,785,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Phf19
|
UTSW |
2 |
34,796,567 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8900:Phf19
|
UTSW |
2 |
34,795,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9500:Phf19
|
UTSW |
2 |
34,801,708 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAAGCTGTCACTTGGAGTGC -3'
(R):5'- ATAAAATGCCTGCGTCTCCC -3'
Sequencing Primer
(F):5'- GAGCCAGTTACTCAAGCCCG -3'
(R):5'- CCAAACCCTGGCAGCATTTCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation