Incidental Mutation 'R1289:Phf19'
| ID |
150722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf19
|
| Ensembl Gene |
ENSMUSG00000026873 |
| Gene Name |
PHD finger protein 19 |
| Synonyms |
3321402G02Rik, 3110009G19Rik |
| MMRRC Submission |
039355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1289 (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 34786042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
| 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: T476A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: T476A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,756 (GRCm39) |
Y367* |
probably null |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,115,026 (GRCm39) |
R997G |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,700,852 (GRCm39) |
I745M |
probably benign |
Het |
| Col22a1 |
T |
G |
15: 71,709,226 (GRCm39) |
K655T |
unknown |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Glcci1 |
G |
A |
6: 8,593,088 (GRCm39) |
V298I |
possibly damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm9956 |
T |
A |
10: 56,621,676 (GRCm39) |
S113T |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,706 (GRCm39) |
I537T |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,916,465 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,330 (GRCm39) |
V260A |
probably damaging |
Het |
| Ift172 |
A |
C |
5: 31,438,320 (GRCm39) |
F46V |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,627,848 (GRCm39) |
I49L |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,696,563 (GRCm39) |
N2450K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,554,764 (GRCm39) |
V867A |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,488,400 (GRCm39) |
T645K |
possibly damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,603 (GRCm39) |
L931P |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,943 (GRCm39) |
I551V |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,475,630 (GRCm39) |
E4472V |
probably damaging |
Het |
| Tek |
T |
G |
4: 94,693,067 (GRCm39) |
F209V |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGTCGTCTCCACTGATGCTTTCAAG -3'
(R):5'- AAGAGCCTAAGCAAGGTCTGCAC -3'
Sequencing Primer
(F):5'- CCACTGATGCTTTCAAGTGTGTG -3'
(R):5'- AGCTTGAAATCCTGGCCTTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation