Incidental Mutation 'IGL01677:Phtf1'
| ID |
103675 |
| 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 # |
IGL01677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103906099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 594
(S594T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000145727]
[ENSMUST00000150849]
|
| AlphaFold |
Q9QZ09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055425
AA Change: S541T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: S541T
| 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 damaging
Transcript: ENSMUST00000063717
AA Change: S594T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: S594T
| 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 |
possibly damaging
Transcript: ENSMUST00000090685
AA Change: S549T
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: S549T
| 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 damaging
Transcript: ENSMUST00000117150
AA Change: S594T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: S594T
| 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 damaging
Transcript: ENSMUST00000145727
AA Change: S594T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: S594T
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
| Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
| Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
| Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
| Klre1 |
G |
T |
6: 129,559,006 (GRCm39) |
G75C |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 32,017,158 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
| Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
| Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
C |
A |
10: 85,779,793 (GRCm39) |
Q292H |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
| Susd2 |
A |
T |
10: 75,475,265 (GRCm39) |
V515E |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,945 (GRCm39) |
R778G |
probably benign |
Het |
| Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
| Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly 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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation