Incidental Mutation 'R5131:Phtf2'
ID |
394996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phtf2
|
Ensembl Gene |
ENSMUSG00000039987 |
Gene Name |
putative homeodomain transcription factor 2 |
Synonyms |
1110054G21Rik, 9530062N20Rik |
MMRRC Submission |
042719-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5131 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20979050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 526
(V526E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118174]
[ENSMUST00000153194]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118174
AA Change: V526E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114087 Gene: ENSMUSG00000039987 AA Change: V526E
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: ENSMUST00000153194
AA Change: V21E
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000120624 Gene: ENSMUSG00000039987 AA Change: V21E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
6 |
28 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
transmembrane domain
|
123 |
142 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
Ccnk |
T |
C |
12: 108,168,890 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Cmklr2 |
T |
A |
1: 63,222,840 (GRCm39) |
S132C |
probably damaging |
Het |
Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
Hnrnpul1 |
A |
G |
7: 25,426,219 (GRCm39) |
V444A |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
Snd1 |
T |
C |
6: 28,885,049 (GRCm39) |
F800S |
probably damaging |
Het |
Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGCAGACGTCAAGTGTC -3'
(R):5'- AATGCCATCTCTCTAATCCTGG -3'
Sequencing Primer
(F):5'- CGTCAAGTGTCCAAAGAGTTTTGC -3'
(R):5'- CTCTAATCCTGGGCTTGACC -3'
|
Posted On |
2016-06-21 |