Incidental Mutation 'R2253:Tcf25'
ID |
241819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcf25
|
Ensembl Gene |
ENSMUSG00000001472 |
Gene Name |
transcription factor 25 (basic helix-loop-helix) |
Synonyms |
Nulp1, 1810041K11Rik, D8Ertd325e, 1100001J13Rik |
MMRRC Submission |
040253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2253 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124100492-124130574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124100772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 54
(E54G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010298]
[ENSMUST00000057934]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212404]
[ENSMUST00000212569]
[ENSMUST00000212470]
[ENSMUST00000212571]
|
AlphaFold |
Q8R3L2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010298
|
SMART Domains |
Protein: ENSMUSP00000010298 Gene: ENSMUSG00000010154
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
KIND
|
26 |
207 |
2.63e-82 |
SMART |
PDB:4EFH|B
|
310 |
360 |
8e-8 |
PDB |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
SCOP:d1zbdb_
|
540 |
636 |
7e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057934
AA Change: E54G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056485 Gene: ENSMUSG00000001472 AA Change: E54G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
Pfam:Tcf25
|
248 |
588 |
4.6e-120 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108840
AA Change: E54G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104468 Gene: ENSMUSG00000001472 AA Change: E54G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
Pfam:Tcf25
|
247 |
588 |
2.3e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211932
AA Change: E54G
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212404
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212569
AA Change: E54G
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212470
AA Change: E54G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212571
AA Change: E54G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,101,622 (GRCm39) |
K453E |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,224,447 (GRCm39) |
Y315H |
possibly damaging |
Het |
Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tcf25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01790:Tcf25
|
APN |
8 |
124,119,975 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02638:Tcf25
|
APN |
8 |
124,126,031 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03112:Tcf25
|
APN |
8 |
124,109,258 (GRCm39) |
splice site |
probably benign |
|
R0492:Tcf25
|
UTSW |
8 |
124,108,203 (GRCm39) |
missense |
probably benign |
0.00 |
R1081:Tcf25
|
UTSW |
8 |
124,108,212 (GRCm39) |
missense |
probably benign |
0.00 |
R1543:Tcf25
|
UTSW |
8 |
124,115,326 (GRCm39) |
missense |
probably benign |
0.01 |
R1634:Tcf25
|
UTSW |
8 |
124,123,830 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1662:Tcf25
|
UTSW |
8 |
124,108,289 (GRCm39) |
missense |
probably benign |
0.00 |
R4326:Tcf25
|
UTSW |
8 |
124,127,882 (GRCm39) |
nonsense |
probably null |
|
R4327:Tcf25
|
UTSW |
8 |
124,127,882 (GRCm39) |
nonsense |
probably null |
|
R4667:Tcf25
|
UTSW |
8 |
124,123,764 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4977:Tcf25
|
UTSW |
8 |
124,115,374 (GRCm39) |
missense |
probably benign |
0.03 |
R5248:Tcf25
|
UTSW |
8 |
124,100,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Tcf25
|
UTSW |
8 |
124,115,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R5759:Tcf25
|
UTSW |
8 |
124,108,196 (GRCm39) |
missense |
probably benign |
0.00 |
R5806:Tcf25
|
UTSW |
8 |
124,108,243 (GRCm39) |
missense |
probably benign |
0.09 |
R5813:Tcf25
|
UTSW |
8 |
124,122,354 (GRCm39) |
splice site |
probably null |
|
R5905:Tcf25
|
UTSW |
8 |
124,108,176 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6028:Tcf25
|
UTSW |
8 |
124,108,176 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6114:Tcf25
|
UTSW |
8 |
124,111,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Tcf25
|
UTSW |
8 |
124,118,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6904:Tcf25
|
UTSW |
8 |
124,127,437 (GRCm39) |
critical splice donor site |
probably null |
|
R7232:Tcf25
|
UTSW |
8 |
124,127,800 (GRCm39) |
splice site |
probably null |
|
R7287:Tcf25
|
UTSW |
8 |
124,100,711 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9062:Tcf25
|
UTSW |
8 |
124,116,448 (GRCm39) |
missense |
|
|
R9135:Tcf25
|
UTSW |
8 |
124,108,182 (GRCm39) |
missense |
probably benign |
0.00 |
R9396:Tcf25
|
UTSW |
8 |
124,127,831 (GRCm39) |
missense |
probably benign |
0.00 |
RF007:Tcf25
|
UTSW |
8 |
124,122,369 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Tcf25
|
UTSW |
8 |
124,100,645 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAAAGCCAGCCATCTCC -3'
(R):5'- AGCAAAGTCCTGTCACTCAGC -3'
Sequencing Primer
(F):5'- CGACACGCCAATCTTGCG -3'
(R):5'- TTCCACTCGATCTCGGACGG -3'
|
Posted On |
2014-10-16 |