Incidental Mutation 'R2475:Phf19'
| ID |
253318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf19
|
| Ensembl Gene |
ENSMUSG00000026873 |
| Gene Name |
PHD finger protein 19 |
| Synonyms |
3321402G02Rik, 3110009G19Rik |
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34783769-34804038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34785807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 554
(R554Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028228]
[ENSMUST00000028232]
[ENSMUST00000047447]
[ENSMUST00000113068]
[ENSMUST00000184164]
|
| AlphaFold |
Q9CXG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028228
|
| SMART Domains |
Protein: ENSMUSP00000028228
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
53 |
109 |
2.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028228
|
| SMART Domains |
Protein: ENSMUSP00000144258
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
110 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028232
AA Change: R554Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: R554Q
| 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 |
probably benign
Transcript: ENSMUST00000047447
|
| SMART Domains |
Protein: ENSMUSP00000038452
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
152 |
6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113068
|
| SMART Domains |
Protein: ENSMUSP00000108691
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
53 |
154 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184164
|
| SMART Domains |
Protein: ENSMUSP00000144477
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
152 |
6e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
probably benign |
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 |
|
R3039:Phf19
|
UTSW |
2 |
34,795,534 (GRCm39) |
missense |
probably benign |
0.26 |
|
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'- AGACTCAGGTACAGCAGCAC -3'
(R):5'- CTCAGACAGCAATGCAGAGG -3'
Sequencing Primer
(F):5'- AGGATGTCCTGTTTCACCAC -3'
(R):5'- CAGAGGGAGCTGTGGGTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation