Incidental Mutation 'R1081:Tcf25'
| ID |
152705 |
| 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 |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124100492-124130574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124108212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 89
(V89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148531
(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: V89A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: V89A
| 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: V89A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: V89A
| 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: V89A
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: V89A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212569
AA Change: V89A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212571
AA Change: V89A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCACAGGCTTAGAGATGTGCTGG -3'
(R):5'- AGCAGGTGGACACACTTATGCAAC -3'
Sequencing Primer
(F):5'- CACAGTCCTCCCTATTGACAG -3'
(R):5'- GGCCTTCAGATTTCTACAGGAAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation