Incidental Mutation 'R4326:Tcf25'
| ID |
324366 |
| 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 |
041096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124100492-124130574 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 124127882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 622
(L622*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057934]
[ENSMUST00000108840]
[ENSMUST00000127664]
[ENSMUST00000211932]
[ENSMUST00000212470]
[ENSMUST00000212569]
[ENSMUST00000212571]
[ENSMUST00000212880]
|
| AlphaFold |
Q8R3L2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057934
AA Change: L647*
|
| SMART Domains |
Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: L647*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212470
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212569
AA Change: L622*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212880
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Abcd3 |
A |
G |
3: 121,555,119 (GRCm39) |
V616A |
probably benign |
Het |
| Abhd17a |
A |
G |
10: 80,419,884 (GRCm39) |
S241P |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Armc3 |
A |
G |
2: 19,305,284 (GRCm39) |
K681E |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atxn1 |
T |
C |
13: 46,119,443 (GRCm39) |
|
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,638,103 (GRCm39) |
K433N |
probably benign |
Het |
| Ccdc113 |
G |
A |
8: 96,283,896 (GRCm39) |
M323I |
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,971,066 (GRCm39) |
V2707M |
probably benign |
Het |
| Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,308,662 (GRCm39) |
V61M |
possibly damaging |
Het |
| Glt28d2 |
G |
A |
3: 85,779,393 (GRCm39) |
Q27* |
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
| Isx |
A |
G |
8: 75,600,284 (GRCm39) |
I6V |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,650,743 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
| Krt80 |
C |
T |
15: 101,250,189 (GRCm39) |
V19M |
possibly damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,137,510 (GRCm39) |
E504D |
possibly damaging |
Het |
| Lpcat4 |
G |
A |
2: 112,076,737 (GRCm39) |
E454K |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
| Noxo1 |
G |
A |
17: 24,917,937 (GRCm39) |
R81H |
probably benign |
Het |
| Or10ab4 |
T |
C |
7: 107,654,362 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,158,232 (GRCm39) |
D35G |
possibly damaging |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Ppp2r2d |
T |
A |
7: 138,470,214 (GRCm39) |
V25D |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,607,715 (GRCm39) |
N709K |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
| Rrs1 |
G |
T |
1: 9,616,566 (GRCm39) |
R273L |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
| Spen |
T |
G |
4: 141,204,683 (GRCm39) |
N1315H |
unknown |
Het |
| Ssrp1 |
A |
G |
2: 84,870,561 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,999,516 (GRCm39) |
A2304E |
probably damaging |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
| Wdr90 |
G |
T |
17: 26,072,705 (GRCm39) |
R884S |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
probably benign |
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 |
|
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'- GCTCAATCTTGGGGCCTAAG -3'
(R):5'- GTATAACCCACTCCCTTCAGAGG -3'
Sequencing Primer
(F):5'- AAGTTGCCTCAGCCGTTGAAC -3'
(R):5'- ATGGTCAGCATTTCTACTCGGAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation