Incidental Mutation 'IGL01816:Phtf2'
| ID |
154404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phtf2
|
| Ensembl Gene |
ENSMUSG00000039987 |
| Gene Name |
putative homeodomain transcription factor 2 |
| Synonyms |
1110054G21Rik, 9530062N20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21008274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 136
(W136R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118174]
[ENSMUST00000156044]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118086
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118174
AA Change: W136R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: W136R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
5 |
154 |
1.3e-76 |
PFAM |
|
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
|
transmembrane domain
|
457 |
479 |
N/A |
INTRINSIC |
|
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
|
transmembrane domain
|
596 |
618 |
N/A |
INTRINSIC |
|
transmembrane domain
|
628 |
647 |
N/A |
INTRINSIC |
|
transmembrane domain
|
715 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156044
|
| SMART Domains |
Protein: ENSMUSP00000120222
Gene: ENSMUSG00000039987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
46 |
3.6e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,677,168 (GRCm39) |
T1888S |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,655,545 (GRCm39) |
V1185A |
probably benign |
Het |
| Bmp8a |
G |
A |
4: 123,210,190 (GRCm39) |
R299C |
probably damaging |
Het |
| Cactin |
T |
C |
10: 81,161,699 (GRCm39) |
Y744H |
possibly damaging |
Het |
| Ccr2 |
A |
T |
9: 123,906,235 (GRCm39) |
I172L |
probably benign |
Het |
| Cyp2j11 |
T |
G |
4: 96,183,161 (GRCm39) |
Q469P |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,767,146 (GRCm39) |
|
probably null |
Het |
| Epb41 |
A |
G |
4: 131,731,006 (GRCm39) |
S192P |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,254,078 (GRCm39) |
Y601* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,305,999 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,886,605 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,957,840 (GRCm39) |
|
probably benign |
Het |
| Pcdhb13 |
A |
C |
18: 37,576,028 (GRCm39) |
R135S |
probably benign |
Het |
| Prpf40b |
G |
A |
15: 99,213,099 (GRCm39) |
A662T |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,578,588 (GRCm39) |
N100S |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,363,851 (GRCm39) |
M211L |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,755,811 (GRCm39) |
L29P |
probably damaging |
Het |
| St14 |
A |
G |
9: 31,019,563 (GRCm39) |
V86A |
possibly damaging |
Het |
| Tfap4 |
T |
C |
16: 4,369,956 (GRCm39) |
N13S |
probably damaging |
Het |
|
| Other mutations in Phtf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Phtf2
|
APN |
5 |
20,987,265 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01789:Phtf2
|
APN |
5 |
20,999,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02266:Phtf2
|
APN |
5 |
21,010,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02295:Phtf2
|
APN |
5 |
21,012,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Phtf2
|
APN |
5 |
20,969,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03179:Phtf2
|
APN |
5 |
20,987,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:Phtf2
|
APN |
5 |
20,966,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03256:Phtf2
|
APN |
5 |
21,008,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4480001:Phtf2
|
UTSW |
5 |
21,018,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Phtf2
|
UTSW |
5 |
21,006,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0589:Phtf2
|
UTSW |
5 |
21,018,249 (GRCm39) |
nonsense |
probably null |
|
|
R1732:Phtf2
|
UTSW |
5 |
20,994,625 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3151:Phtf2
|
UTSW |
5 |
20,970,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Phtf2
|
UTSW |
5 |
20,987,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Phtf2
|
UTSW |
5 |
20,979,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Phtf2
|
UTSW |
5 |
21,018,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Phtf2
|
UTSW |
5 |
20,994,593 (GRCm39) |
intron |
probably benign |
|
|
R4627:Phtf2
|
UTSW |
5 |
20,978,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Phtf2
|
UTSW |
5 |
21,010,722 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5131:Phtf2
|
UTSW |
5 |
20,979,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Phtf2
|
UTSW |
5 |
20,977,195 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5871:Phtf2
|
UTSW |
5 |
20,999,399 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5941:Phtf2
|
UTSW |
5 |
20,979,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5964:Phtf2
|
UTSW |
5 |
20,980,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Phtf2
|
UTSW |
5 |
21,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Phtf2
|
UTSW |
5 |
21,017,954 (GRCm39) |
intron |
probably benign |
|
|
R6684:Phtf2
|
UTSW |
5 |
21,017,937 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7003:Phtf2
|
UTSW |
5 |
20,999,399 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7253:Phtf2
|
UTSW |
5 |
20,970,856 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7566:Phtf2
|
UTSW |
5 |
20,970,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Phtf2
|
UTSW |
5 |
20,987,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8117:Phtf2
|
UTSW |
5 |
21,007,038 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8514:Phtf2
|
UTSW |
5 |
21,007,030 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8921:Phtf2
|
UTSW |
5 |
21,008,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8975:Phtf2
|
UTSW |
5 |
20,969,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Phtf2
|
UTSW |
5 |
20,999,373 (GRCm39) |
missense |
probably benign |
|
|
R9164:Phtf2
|
UTSW |
5 |
21,008,190 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation