Incidental Mutation 'R6684:Phtf2'
| ID |
543504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf2
|
| Ensembl Gene |
ENSMUSG00000039987 |
| Gene Name |
putative homeodomain transcription factor 2 |
| Synonyms |
1110054G21Rik, 9530062N20Rik |
| MMRRC Submission |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
20963662-21087122 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 21017937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118174]
[ENSMUST00000156044]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118174
|
| SMART Domains |
Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
| 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: ENSMUST00000156044
|
| SMART Domains |
Protein: ENSMUSP00000120222
Gene: ENSMUSG00000039987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
46 |
3.6e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
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 |
|
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 |
|
|
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'- TGCCTACCAGAAAAGCATTTG -3'
(R):5'- GCAGTTCTCTAAATTGTCTGTCAC -3'
Sequencing Primer
(F):5'- AGGCAGATCCCTAAGAAG -3'
(R):5'- TGCCATTCCATTTGTGTTGAC -3'
|
| Posted On |
2019-01-31 |
Incidental Mutation