Incidental Mutation 'R5759:Tcf25'
| ID |
445192 |
| 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 |
043361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5759 (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 124108196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 84
(T84A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057934]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212470]
[ENSMUST00000212569]
[ENSMUST00000212571]
|
| AlphaFold |
Q8R3L2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057934
AA Change: T84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: T84A
| 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: T84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: T84A
| 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: T84A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211964
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212470
AA Change: T84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212569
AA Change: T84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212571
AA Change: T84A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,419 (GRCm39) |
S1203P |
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,594,936 (GRCm39) |
V341A |
possibly damaging |
Het |
| Arf2 |
G |
A |
11: 103,874,459 (GRCm39) |
G144S |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,455 (GRCm39) |
N862D |
probably benign |
Het |
| Cep295nl |
T |
C |
11: 118,224,472 (GRCm39) |
H124R |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,825,682 (GRCm39) |
V1141I |
possibly damaging |
Het |
| Chst5 |
C |
A |
8: 112,616,842 (GRCm39) |
K259N |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,413,383 (GRCm39) |
D1144V |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,792 (GRCm39) |
Y2795C |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,280 (GRCm39) |
N3131S |
probably damaging |
Het |
| Dnah7c |
G |
A |
1: 46,654,527 (GRCm39) |
G1436R |
probably damaging |
Het |
| Emp2 |
T |
A |
16: 10,102,374 (GRCm39) |
Y146F |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,562,189 (GRCm39) |
Q148* |
probably null |
Het |
| Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
| Fam186b |
T |
G |
15: 99,177,598 (GRCm39) |
Y576S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,857,775 (GRCm39) |
V2023A |
probably benign |
Het |
| Grm5 |
A |
C |
7: 87,675,808 (GRCm39) |
M441L |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,617,343 (GRCm39) |
Y297H |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,219,188 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,040 (GRCm39) |
N169K |
possibly damaging |
Het |
| Kat6a |
T |
G |
8: 23,428,028 (GRCm39) |
S1128A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,992,420 (GRCm39) |
E1041G |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Mfsd5 |
G |
A |
15: 102,189,513 (GRCm39) |
G295D |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,483,125 (GRCm39) |
N757K |
probably benign |
Het |
| Mmp20 |
T |
A |
9: 7,628,378 (GRCm39) |
|
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,070 (GRCm39) |
V100A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,539,750 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,228 (GRCm39) |
V272E |
probably benign |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Phf19 |
T |
G |
2: 34,787,135 (GRCm39) |
D443A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,234,394 (GRCm39) |
V84A |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,243,094 (GRCm39) |
I94V |
probably benign |
Het |
| Slc35a1 |
C |
A |
4: 34,675,032 (GRCm39) |
V132L |
probably benign |
Het |
| Sntg1 |
G |
A |
1: 8,484,494 (GRCm39) |
S442L |
probably benign |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,075,041 (GRCm39) |
E76G |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,499,482 (GRCm39) |
P932S |
probably benign |
Het |
| Trib1 |
G |
A |
15: 59,526,350 (GRCm39) |
V307I |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,185,215 (GRCm39) |
D11E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,980,640 (GRCm39) |
S243P |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,905 (GRCm39) |
I280T |
probably damaging |
Het |
| Zfp1010 |
A |
T |
2: 176,956,765 (GRCm39) |
C244* |
probably null |
Het |
| Zfp445 |
G |
T |
9: 122,682,211 (GRCm39) |
Q577K |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,160,957 (GRCm39) |
K403E |
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 |
|
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 |
|
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'- CACAGTCCTCCCTATTGACAG -3'
(R):5'- TTCAAGAAACTGGTAGTGCAGG -3'
Sequencing Primer
(F):5'- GACAGTCCTCCCCATTCACTG -3'
(R):5'- TGGATGTGGCCAGCACCTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation