Incidental Mutation 'IGL03179:Phtf2'
| ID |
412142 |
| 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 # |
IGL03179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20987397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 366
(D366E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118174]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118174
AA Change: D366E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: D366E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
A |
14: 78,745,180 (GRCm39) |
H1736L |
probably benign |
Het |
| App |
A |
G |
16: 84,879,735 (GRCm39) |
C133R |
probably damaging |
Het |
| Atxn7l2 |
G |
T |
3: 108,110,963 (GRCm39) |
C524* |
probably null |
Het |
| Cckbr |
T |
C |
7: 105,084,130 (GRCm39) |
V288A |
probably benign |
Het |
| Ccr1l1 |
T |
C |
9: 123,777,787 (GRCm39) |
Y220C |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,614,417 (GRCm39) |
F47I |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,403,950 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,502 (GRCm39) |
S347P |
probably damaging |
Het |
| Clcn5 |
T |
A |
X: 7,029,565 (GRCm39) |
|
probably null |
Het |
| D6Wsu163e |
A |
G |
6: 126,927,074 (GRCm39) |
D187G |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,044,634 (GRCm39) |
I1852F |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,832,777 (GRCm39) |
G861D |
probably damaging |
Het |
| Fcnb |
A |
G |
2: 27,966,646 (GRCm39) |
S296P |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,073 (GRCm39) |
R233K |
probably benign |
Het |
| Gm21985 |
G |
A |
2: 112,188,900 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Gpc3 |
A |
T |
X: 51,486,090 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,280,044 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,781 (GRCm39) |
E370G |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,163,148 (GRCm39) |
I326F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,066,653 (GRCm39) |
L5906Q |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,903,888 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,938 (GRCm39) |
N17S |
possibly damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,279 (GRCm39) |
|
probably benign |
Het |
| Or6s1 |
T |
C |
14: 51,308,467 (GRCm39) |
I128V |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,811,763 (GRCm39) |
Y358C |
possibly damaging |
Het |
| Pex10 |
A |
C |
4: 155,152,354 (GRCm39) |
I61L |
probably benign |
Het |
| Phax |
T |
C |
18: 56,713,364 (GRCm39) |
F248L |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,830,085 (GRCm39) |
Y205H |
possibly damaging |
Het |
| Pparg |
T |
A |
6: 115,416,833 (GRCm39) |
W9R |
probably damaging |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,796,434 (GRCm39) |
G89S |
possibly damaging |
Het |
| Prex1 |
C |
T |
2: 166,427,114 (GRCm39) |
S867N |
probably benign |
Het |
| Pyroxd2 |
T |
A |
19: 42,736,001 (GRCm39) |
N59I |
possibly damaging |
Het |
| Rnf135 |
T |
A |
11: 80,084,837 (GRCm39) |
S203R |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,758,289 (GRCm39) |
N605I |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Slc25a14 |
T |
C |
X: 47,726,317 (GRCm39) |
S152P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,527,571 (GRCm39) |
F436I |
probably damaging |
Het |
| Tgfa |
T |
C |
6: 86,248,403 (GRCm39) |
L135P |
probably benign |
Het |
| Tgif1 |
T |
C |
17: 71,151,942 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Tmc2 |
G |
A |
2: 130,071,107 (GRCm39) |
E279K |
probably damaging |
Het |
| Tnks |
G |
T |
8: 35,315,824 (GRCm39) |
N987K |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,876,676 (GRCm39) |
E209G |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,468 (GRCm39) |
I497L |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,800,734 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,720,086 (GRCm39) |
I193V |
possibly 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 |
|
IGL01816:Phtf2
|
APN |
5 |
21,008,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation