Incidental Mutation 'IGL02697:Phtf1'
ID |
303974 |
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 # |
IGL02697
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103904879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 509
(A509V)
|
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: A456V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058137 Gene: ENSMUSG00000058388 AA Change: A456V
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: A509V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066607 Gene: ENSMUSG00000058388 AA Change: A509V
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: A464V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088184 Gene: ENSMUSG00000058388 AA Change: A464V
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: A509V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113973 Gene: ENSMUSG00000058388 AA Change: A509V
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: A509V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114722 Gene: ENSMUSG00000058388 AA Change: A509V
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
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 |
IGL02807:Phtf1
|
APN |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |