Incidental Mutation 'R3843:Phtf2'
| ID |
277240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf2
|
| Ensembl Gene |
ENSMUSG00000039987 |
| Gene Name |
putative homeodomain transcription factor 2 |
| Synonyms |
1110054G21Rik, 9530062N20Rik |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20979020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 31
(A31V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120624
(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: A536V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: A536V
| 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 damaging
Transcript: ENSMUST00000153194
AA Change: A31V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120624
Gene: ENSMUSG00000039987
AA Change: A31V
| 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 |
|
| Meta Mutation Damage Score |
0.4468 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCAGACGTCAAGTGTCC -3'
(R):5'- TTCCGACTGTCACAAGCAAC -3'
Sequencing Primer
(F):5'- CGTCAAGTGTCCAAAGAGTTTTGC -3'
(R):5'- CAGACTTGGAGCAGCTCACAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation