Incidental Mutation 'IGL02266:Phtf2'
| ID |
286914 |
| 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 # |
IGL02266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21010797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 63
(K63Q)
|
| 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: K63Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: K63Q
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,307,360 (GRCm39) |
Q1974* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,808,382 (GRCm39) |
V902L |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,493 (GRCm39) |
V274A |
probably damaging |
Het |
| Akr1b8 |
A |
G |
6: 34,331,208 (GRCm39) |
I15V |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,314 (GRCm39) |
Q574L |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,999,300 (GRCm39) |
I238N |
possibly damaging |
Het |
| Crk |
C |
A |
11: 75,570,415 (GRCm39) |
R16S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,843,163 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,725 (GRCm39) |
N369S |
possibly damaging |
Het |
| Fam220a |
T |
C |
5: 143,549,326 (GRCm39) |
V246A |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,481 (GRCm39) |
F370I |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,977 (GRCm39) |
Q294P |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,237,888 (GRCm39) |
F204L |
probably damaging |
Het |
| Lrrc8c |
A |
C |
5: 105,756,114 (GRCm39) |
I630L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,162 (GRCm39) |
D407G |
possibly damaging |
Het |
| Or4f61 |
G |
A |
2: 111,922,588 (GRCm39) |
L153F |
probably benign |
Het |
| Or8k22 |
T |
A |
2: 86,163,323 (GRCm39) |
I126F |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,791,086 (GRCm39) |
|
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,126,201 (GRCm39) |
T812A |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,010 (GRCm39) |
H3456L |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,903,855 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,697 (GRCm39) |
V734I |
possibly damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,470,166 (GRCm39) |
N38S |
probably damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,611 (GRCm39) |
W368R |
probably damaging |
Het |
| Sidt1 |
T |
C |
16: 44,075,348 (GRCm39) |
D670G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,045,092 (GRCm39) |
|
probably benign |
Het |
| Tekt5 |
A |
T |
16: 10,196,906 (GRCm39) |
I315N |
probably benign |
Het |
| Trappc11 |
A |
C |
8: 47,958,766 (GRCm39) |
C42G |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,626,331 (GRCm39) |
|
noncoding transcript |
Het |
| Ubqlnl |
C |
A |
7: 103,798,754 (GRCm39) |
E248* |
probably null |
Het |
| Ulk4 |
G |
T |
9: 120,910,766 (GRCm39) |
T1086K |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,978,234 (GRCm39) |
D680E |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,039 (GRCm39) |
Y346H |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,525,007 (GRCm39) |
I47T |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,129 (GRCm39) |
V178A |
probably benign |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,653 (GRCm39) |
T1096A |
probably benign |
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 |
|
IGL01816:Phtf2
|
APN |
5 |
21,008,274 (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 |
2015-04-16 |
Incidental Mutation