Incidental Mutation 'R3729:Phtf1'
| ID |
270866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf1
|
| Ensembl Gene |
ENSMUSG00000058388 |
| Gene Name |
putative homeodomain transcription factor 1 |
| Synonyms |
Phft |
| MMRRC Submission |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3729 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103893095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 120
(M120V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000123611]
[ENSMUST00000145727]
[ENSMUST00000150849]
[ENSMUST00000156262]
|
| AlphaFold |
Q9QZ09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055425
AA Change: M67V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: M67V
| 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: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: M120V
| 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: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: M120V
| 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: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: M120V
| 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 |
probably benign
Transcript: ENSMUST00000123611
AA Change: M101V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116193
Gene: ENSMUSG00000058388
AA Change: M101V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
9 |
139 |
1.7e-67 |
PFAM |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145727
AA Change: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: M120V
| 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
AA Change: M120V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000118281
Gene: ENSMUSG00000058388
AA Change: M120V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
4.5e-90 |
PFAM |
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156262
AA Change: M67V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121036
Gene: ENSMUSG00000058388
AA Change: M67V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
1e-31 |
PFAM |
|
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
7.2e-19 |
PFAM |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0763 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGTCTGGATATTCCTGCTTCC -3'
(R):5'- GCATCAAACAACTGTCATTTCG -3'
Sequencing Primer
(F):5'- CCAGTTTGCAGATATTTCCAGGAG -3'
(R):5'- CAACTGTCATTTCGTCAAATATGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation