Incidental Mutation 'IGL02807:Phtf1'
ID |
360460 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phtf1
|
Ensembl Gene |
ENSMUSG00000058388 |
Gene Name |
putative homeodomain transcription factor 1 |
Synonyms |
Phft |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02807
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 103904869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 506
(S506A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000145727]
[ENSMUST00000150849]
|
AlphaFold |
Q9QZ09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055425
AA Change: S453A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058137 Gene: ENSMUSG00000058388 AA Change: S453A
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
8.6e-31 |
PFAM |
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
5.2e-18 |
PFAM |
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
low complexity region
|
294 |
317 |
N/A |
INTRINSIC |
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
557 |
579 |
N/A |
INTRINSIC |
transmembrane domain
|
594 |
611 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063717
AA Change: S506A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066607 Gene: ENSMUSG00000058388 AA Change: S506A
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
5 |
151 |
9.9e-73 |
PFAM |
low complexity region
|
155 |
163 |
N/A |
INTRINSIC |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090685
AA Change: S461A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000088184 Gene: ENSMUSG00000058388 AA Change: S461A
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
8.9e-89 |
PFAM |
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
428 |
447 |
N/A |
INTRINSIC |
transmembrane domain
|
467 |
489 |
N/A |
INTRINSIC |
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
transmembrane domain
|
602 |
619 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117150
AA Change: S506A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113973 Gene: ENSMUSG00000058388 AA Change: S506A
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145727
AA Change: S506A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114722 Gene: ENSMUSG00000058388 AA Change: S506A
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150090
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150849
|
SMART Domains |
Protein: ENSMUSP00000118281 Gene: ENSMUSG00000058388
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
4.5e-90 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
C |
A |
13: 70,886,897 (GRCm39) |
|
probably null |
Het |
Ankra2 |
T |
C |
13: 98,408,250 (GRCm39) |
L73P |
probably damaging |
Het |
Ankrd63 |
G |
T |
2: 118,533,789 (GRCm39) |
|
probably benign |
Het |
Cars1 |
A |
T |
7: 143,123,209 (GRCm39) |
I469N |
possibly damaging |
Het |
Chn2 |
A |
G |
6: 54,272,898 (GRCm39) |
E183G |
possibly damaging |
Het |
Fstl4 |
A |
T |
11: 53,077,501 (GRCm39) |
T753S |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,938,770 (GRCm39) |
N511K |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,328,300 (GRCm39) |
I310N |
probably damaging |
Het |
Kcnc3 |
C |
A |
7: 44,245,381 (GRCm39) |
P557Q |
probably damaging |
Het |
Mrps36 |
A |
G |
13: 100,877,674 (GRCm39) |
|
probably null |
Het |
Mug1 |
A |
G |
6: 121,863,531 (GRCm39) |
T1410A |
probably damaging |
Het |
Nme8 |
C |
A |
13: 19,860,001 (GRCm39) |
|
probably benign |
Het |
Or1l4 |
A |
C |
2: 37,091,586 (GRCm39) |
N111T |
probably damaging |
Het |
Or4d11 |
A |
G |
19: 12,013,648 (GRCm39) |
F153L |
probably benign |
Het |
Or51v14 |
A |
T |
7: 103,261,198 (GRCm39) |
S121T |
probably benign |
Het |
Or8b36 |
C |
T |
9: 37,937,485 (GRCm39) |
P128S |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
Plpp5 |
G |
T |
8: 26,211,192 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
G |
T |
2: 72,035,993 (GRCm39) |
|
probably benign |
Het |
Syt15 |
G |
A |
14: 33,944,870 (GRCm39) |
G139D |
probably benign |
Het |
Trpm8 |
T |
C |
1: 88,275,830 (GRCm39) |
L476P |
probably damaging |
Het |
Virma |
G |
A |
4: 11,507,079 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
T |
A |
7: 23,305,760 (GRCm39) |
I54N |
probably damaging |
Het |
Vmn2r98 |
G |
A |
17: 19,301,283 (GRCm39) |
A762T |
probably damaging |
Het |
|
Other mutations in Phtf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Phtf1
|
APN |
3 |
103,895,983 (GRCm39) |
missense |
probably benign |
|
IGL01139:Phtf1
|
APN |
3 |
103,912,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01677:Phtf1
|
APN |
3 |
103,906,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02169:Phtf1
|
APN |
3 |
103,904,815 (GRCm39) |
missense |
probably benign |
|
IGL02542:Phtf1
|
APN |
3 |
103,901,222 (GRCm39) |
splice site |
probably benign |
|
IGL02557:Phtf1
|
APN |
3 |
103,906,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02697:Phtf1
|
APN |
3 |
103,904,879 (GRCm39) |
missense |
probably benign |
|
R0140:Phtf1
|
UTSW |
3 |
103,894,876 (GRCm39) |
missense |
probably null |
1.00 |
R0555:Phtf1
|
UTSW |
3 |
103,911,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Phtf1
|
UTSW |
3 |
103,901,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Phtf1
|
UTSW |
3 |
103,894,750 (GRCm39) |
nonsense |
probably null |
|
R1799:Phtf1
|
UTSW |
3 |
103,903,958 (GRCm39) |
missense |
probably benign |
0.01 |
R1804:Phtf1
|
UTSW |
3 |
103,894,883 (GRCm39) |
unclassified |
probably benign |
|
R1921:Phtf1
|
UTSW |
3 |
103,876,438 (GRCm39) |
nonsense |
probably null |
|
R1943:Phtf1
|
UTSW |
3 |
103,901,198 (GRCm39) |
nonsense |
probably null |
|
R2006:Phtf1
|
UTSW |
3 |
103,911,799 (GRCm39) |
critical splice donor site |
probably null |
|
R3729:Phtf1
|
UTSW |
3 |
103,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
R3731:Phtf1
|
UTSW |
3 |
103,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
R4051:Phtf1
|
UTSW |
3 |
103,912,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4210:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
R4211:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
R4730:Phtf1
|
UTSW |
3 |
103,894,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4982:Phtf1
|
UTSW |
3 |
103,906,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Phtf1
|
UTSW |
3 |
103,906,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R5321:Phtf1
|
UTSW |
3 |
103,910,827 (GRCm39) |
missense |
probably benign |
0.31 |
R5499:Phtf1
|
UTSW |
3 |
103,898,491 (GRCm39) |
missense |
probably benign |
0.00 |
R6134:Phtf1
|
UTSW |
3 |
103,911,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R6603:Phtf1
|
UTSW |
3 |
103,901,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7242:Phtf1
|
UTSW |
3 |
103,906,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R7311:Phtf1
|
UTSW |
3 |
103,904,980 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7519:Phtf1
|
UTSW |
3 |
103,876,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7601:Phtf1
|
UTSW |
3 |
103,901,161 (GRCm39) |
missense |
probably benign |
0.03 |
R7657:Phtf1
|
UTSW |
3 |
103,876,429 (GRCm39) |
missense |
probably benign |
0.00 |
R8354:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Phtf1
|
UTSW |
3 |
103,910,792 (GRCm39) |
missense |
probably benign |
0.39 |
R9020:Phtf1
|
UTSW |
3 |
103,898,694 (GRCm39) |
nonsense |
probably null |
|
R9295:Phtf1
|
UTSW |
3 |
103,904,893 (GRCm39) |
missense |
probably benign |
0.00 |
R9682:Phtf1
|
UTSW |
3 |
103,901,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9798:Phtf1
|
UTSW |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |