Incidental Mutation 'IGL01790:Tcf25'
ID |
155188 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tcf25
|
Ensembl Gene |
ENSMUSG00000001472 |
Gene Name |
transcription factor 25 (basic helix-loop-helix) |
Synonyms |
Nulp1, 1810041K11Rik, D8Ertd325e, 1100001J13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01790
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
124100492-124130574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124119975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057934]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212470]
[ENSMUST00000212569]
[ENSMUST00000212571]
[ENSMUST00000212880]
|
AlphaFold |
Q8R3L2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057934
AA Change: E407G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000056485 Gene: ENSMUSG00000001472 AA Change: E407G
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 |
possibly damaging
Transcript: ENSMUST00000108840
AA Change: E407G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104468 Gene: ENSMUSG00000001472 AA Change: E407G
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 |
possibly damaging
Transcript: ENSMUST00000211932
AA Change: E407G
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211964
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212470
AA Change: E382G
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212569
AA Change: E382G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212571
AA Change: E407G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212741
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212880
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astn1 |
T |
C |
1: 158,407,897 (GRCm39) |
I618T |
possibly damaging |
Het |
Bod1l |
T |
C |
5: 41,989,593 (GRCm39) |
S377G |
probably benign |
Het |
Disp2 |
A |
T |
2: 118,621,361 (GRCm39) |
S698C |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,773,012 (GRCm39) |
V43A |
probably damaging |
Het |
Eml5 |
G |
T |
12: 98,765,191 (GRCm39) |
T1539K |
probably damaging |
Het |
Fmnl2 |
T |
C |
2: 53,008,380 (GRCm39) |
I824T |
probably damaging |
Het |
Gpr75 |
T |
G |
11: 30,841,132 (GRCm39) |
N12K |
probably damaging |
Het |
Hap1 |
C |
T |
11: 100,242,732 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
C |
2: 180,880,274 (GRCm39) |
Y481D |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,157,236 (GRCm39) |
|
probably null |
Het |
Lrcol1 |
A |
G |
5: 110,502,073 (GRCm39) |
S49G |
probably damaging |
Het |
Magi3 |
A |
G |
3: 103,992,560 (GRCm39) |
M304T |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,731,587 (GRCm39) |
W88R |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,710,257 (GRCm39) |
V503A |
probably damaging |
Het |
Ntm |
C |
A |
9: 29,322,886 (GRCm39) |
V45L |
probably benign |
Het |
Or4c100 |
A |
G |
2: 88,356,767 (GRCm39) |
N280S |
probably damaging |
Het |
Or4f60 |
T |
A |
2: 111,902,266 (GRCm39) |
I221L |
probably benign |
Het |
Or4p22 |
T |
A |
2: 88,317,270 (GRCm39) |
S65T |
possibly damaging |
Het |
Or5b116 |
A |
G |
19: 13,422,526 (GRCm39) |
D50G |
probably damaging |
Het |
Or7a40 |
T |
C |
16: 16,490,967 (GRCm39) |
R293G |
probably damaging |
Het |
Pias4 |
T |
C |
10: 80,993,332 (GRCm39) |
Q197R |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,628,895 (GRCm39) |
H684L |
probably damaging |
Het |
Prr5 |
A |
C |
15: 84,651,415 (GRCm39) |
I288L |
possibly damaging |
Het |
Psmb3 |
T |
A |
11: 97,603,336 (GRCm39) |
M183K |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,808,383 (GRCm39) |
F472L |
possibly damaging |
Het |
Rpl3 |
A |
T |
15: 79,964,061 (GRCm39) |
|
probably benign |
Het |
Scin |
A |
T |
12: 40,113,256 (GRCm39) |
D538E |
probably benign |
Het |
Sdhb |
T |
C |
4: 140,701,038 (GRCm39) |
S165P |
probably benign |
Het |
Slc43a2 |
C |
A |
11: 75,436,577 (GRCm39) |
|
probably null |
Het |
Sparc |
C |
T |
11: 55,298,041 (GRCm39) |
|
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tmx3 |
G |
A |
18: 90,529,458 (GRCm39) |
|
probably null |
Het |
Trim24 |
C |
T |
6: 37,922,548 (GRCm39) |
P452S |
probably benign |
Het |
Vsig10 |
T |
A |
5: 117,476,379 (GRCm39) |
W278R |
probably damaging |
Het |
|
Other mutations in Tcf25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2014-02-04 |