Incidental Mutation 'R5248:Tcf25'
ID |
398665 |
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 |
042819-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5248 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
124100492-124130574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 124100678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 23
(A23S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010298]
[ENSMUST00000057934]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212404]
[ENSMUST00000212470]
[ENSMUST00000212569]
[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 damaging
Transcript: ENSMUST00000057934
AA Change: A23S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056485 Gene: ENSMUSG00000001472 AA Change: A23S
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 damaging
Transcript: ENSMUST00000108840
AA Change: A23S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104468 Gene: ENSMUSG00000001472 AA Change: A23S
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 damaging
Transcript: ENSMUST00000211932
AA Change: A23S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212404
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212470
AA Change: A23S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212569
AA Change: A23S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212571
AA Change: A23S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
probably damaging |
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 |
R2253:Tcf25
|
UTSW |
8 |
124,100,772 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
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'- TCTGAAAGCCAGCCATCTC -3'
(R):5'- GTCCAGACCCAACTTTGTGC -3'
Sequencing Primer
(F):5'- ACTCCACGGGGAATTGGG -3'
(R):5'- TGCCCCTTCGCATGACG -3'
|
Posted On |
2016-07-06 |