Incidental Mutation 'R4211:Tfpt'
| ID |
319193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfpt
|
| Ensembl Gene |
ENSMUSG00000006335 |
| Gene Name |
TCF3 (E2A) fusion partner |
| Synonyms |
FB1, Amida, 2400004F01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R4211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3623323-3632911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3623386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 240
(Y240H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039507]
[ENSMUST00000076657]
[ENSMUST00000108641]
[ENSMUST00000108644]
[ENSMUST00000108645]
[ENSMUST00000155592]
[ENSMUST00000205596]
[ENSMUST00000206370]
[ENSMUST00000153143]
[ENSMUST00000148012]
[ENSMUST00000148403]
|
| AlphaFold |
Q3U1J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039507
|
| SMART Domains |
Protein: ENSMUSP00000041306
Gene: ENSMUSG00000054594
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
43 |
126 |
1.03e0 |
SMART |
|
internal_repeat_1
|
133 |
218 |
3.4e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058880
|
| SMART Domains |
Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076657
|
| SMART Domains |
Protein: ENSMUSP00000075953
Gene: ENSMUSG00000035674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NADHdh_A3
|
1 |
84 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108641
AA Change: Y250H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: Y250H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108644
|
| SMART Domains |
Protein: ENSMUSP00000104284
Gene: ENSMUSG00000035674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NADHdh_A3
|
1 |
100 |
1.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108645
|
| SMART Domains |
Protein: ENSMUSP00000104285
Gene: ENSMUSG00000054594
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
37 |
120 |
1.03e0 |
SMART |
|
Pfam:Ig_2
|
128 |
215 |
4.7e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134683
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155592
AA Change: Y240H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: Y240H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148012
|
| SMART Domains |
Protein: ENSMUSP00000123672
Gene: ENSMUSG00000054594
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
109 |
1.03e0 |
SMART |
|
Pfam:Ig_2
|
117 |
204 |
2.8e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148403
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
| Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
| Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
| Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
| Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
| Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
| Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
| Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
| Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably damaging |
Het |
|
| Other mutations in Tfpt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02156:Tfpt
|
APN |
7 |
3,632,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Tfpt
|
APN |
7 |
3,631,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Tfpt
|
UTSW |
7 |
3,623,898 (GRCm39) |
nonsense |
probably null |
|
|
R2122:Tfpt
|
UTSW |
7 |
3,631,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Tfpt
|
UTSW |
7 |
3,632,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Tfpt
|
UTSW |
7 |
3,632,566 (GRCm39) |
nonsense |
probably null |
|
|
R6659:Tfpt
|
UTSW |
7 |
3,623,835 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7703:Tfpt
|
UTSW |
7 |
3,623,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8445:Tfpt
|
UTSW |
7 |
3,623,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Tfpt
|
UTSW |
7 |
3,632,065 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9056:Tfpt
|
UTSW |
7 |
3,627,604 (GRCm39) |
missense |
probably null |
0.76 |
|
R9675:Tfpt
|
UTSW |
7 |
3,623,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCTGTGAATGCCTCTGC -3'
(R):5'- CCCATAGGCTGATTGGTGAGTG -3'
Sequencing Primer
(F):5'- AATGCCTCTGCTGATGGAAG -3'
(R):5'- GTGCTTGGGGGTAGTATGTCTCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation