Incidental Mutation 'IGL03256:Phtf2'
| ID |
414659 |
| 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 # |
IGL03256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21008250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 144
(V144L)
|
| 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: V144L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: V144L
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
T |
8: 73,199,043 (GRCm39) |
T150I |
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,291,280 (GRCm39) |
N333D |
probably benign |
Het |
| Aifm3 |
G |
A |
16: 17,324,174 (GRCm39) |
R578Q |
probably benign |
Het |
| Arid2 |
C |
A |
15: 96,268,643 (GRCm39) |
Q919K |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,931,451 (GRCm39) |
|
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,083 (GRCm39) |
T599S |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,960,832 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,409,299 (GRCm39) |
R601W |
probably damaging |
Het |
| Clca3a2 |
A |
C |
3: 144,792,153 (GRCm39) |
S369R |
possibly damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,557,182 (GRCm39) |
V795G |
possibly damaging |
Het |
| Ddb1 |
A |
G |
19: 10,599,225 (GRCm39) |
T544A |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,255,329 (GRCm39) |
I54T |
probably damaging |
Het |
| Dera |
A |
G |
6: 137,756,643 (GRCm39) |
M89V |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,830,923 (GRCm39) |
K427I |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,838 (GRCm39) |
I400V |
probably benign |
Het |
| Gk5 |
T |
A |
9: 96,011,106 (GRCm39) |
L72H |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,445 (GRCm39) |
Y133F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,455,069 (GRCm39) |
L662P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,455,070 (GRCm39) |
L662M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,298,757 (GRCm39) |
S71T |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,395,538 (GRCm39) |
|
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Magel2 |
C |
A |
7: 62,030,162 (GRCm39) |
T1022K |
unknown |
Het |
| Mycbp2 |
C |
A |
14: 103,426,025 (GRCm39) |
V2367F |
possibly damaging |
Het |
| Nap1l3 |
C |
T |
X: 121,305,905 (GRCm39) |
G271D |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,689,117 (GRCm39) |
D346E |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,121,613 (GRCm39) |
E435D |
probably damaging |
Het |
| Nfam1 |
C |
T |
15: 82,894,611 (GRCm39) |
G205R |
probably benign |
Het |
| Or10aa1 |
T |
C |
1: 173,869,774 (GRCm39) |
L86P |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,797,522 (GRCm39) |
N265K |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,631 (GRCm39) |
M99K |
probably damaging |
Het |
| Otud3 |
G |
A |
4: 138,636,928 (GRCm39) |
R78W |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,758 (GRCm39) |
A208T |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,607 (GRCm39) |
E683D |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,509,311 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,942,445 (GRCm39) |
D459V |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,302,632 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
A |
C |
11: 54,548,255 (GRCm39) |
Q813P |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,328,211 (GRCm39) |
D1071V |
possibly damaging |
Het |
| Sctr |
T |
C |
1: 119,959,289 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
G |
3: 75,526,481 (GRCm39) |
I244M |
probably benign |
Het |
| Tada2a |
C |
A |
11: 83,978,018 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,352,092 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,907,694 (GRCm39) |
L1246Q |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,353 (GRCm39) |
N449S |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,370,090 (GRCm39) |
Y1771* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,542,207 (GRCm39) |
|
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,698 (GRCm39) |
|
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 |
|
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 |
|
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