Incidental Mutation 'R9675:Tfpt'
ID |
728302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfpt
|
Ensembl Gene |
ENSMUSG00000006335 |
Gene Name |
TCF3 (E2A) fusion partner |
Synonyms |
FB1, Amida, 2400004F01Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R9675 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3623323-3632911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3623981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 142
(D142V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039507]
[ENSMUST00000076657]
[ENSMUST00000108641]
[ENSMUST00000108644]
[ENSMUST00000108645]
[ENSMUST00000148012]
[ENSMUST00000148403]
[ENSMUST00000153143]
[ENSMUST00000155592]
[ENSMUST00000205596]
[ENSMUST00000206370]
|
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: D142V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104281 Gene: ENSMUSG00000006335 AA Change: D142V
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 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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153143
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155592
AA Change: D142V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123636 Gene: ENSMUSG00000006335 AA Change: D142V
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205596
AA Change: D22V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206370
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
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 |
R4211:Tfpt
|
UTSW |
7 |
3,623,386 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGGAGTCAATGAAGCCC -3'
(R):5'- ATCTTTTACGTACTCCCTCAGAAG -3'
Sequencing Primer
(F):5'- ATGAAGCCCCCACCCGTG -3'
(R):5'- AAGATTTTCAGTGCCTGCATC -3'
|
Posted On |
2022-10-06 |