Incidental Mutation 'R2879:Tfcp2'
| ID |
260253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfcp2
|
| Ensembl Gene |
ENSMUSG00000009733 |
| Gene Name |
transcription factor CP2 |
| Synonyms |
LBP1, LSF, LBP-1c, LBP-1d, CP-2, UBP-1, Tcfcp2, CP2, D230015P20Rik |
| MMRRC Submission |
040467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2879 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100395893-100449889 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 100449201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009877]
[ENSMUST00000229265]
[ENSMUST00000229581]
[ENSMUST00000229696]
[ENSMUST00000231138]
|
| AlphaFold |
Q9ERA0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009877
|
| SMART Domains |
Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
44 |
260 |
8.6e-60 |
PFAM |
|
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229265
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230254
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231138
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no apparent alterations in overall behavior, hematopoiesis, globin chain synthesis, or immunological function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
| Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
| Cyp2b13 |
T |
G |
7: 25,785,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
| Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
| Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,723,797 (GRCm39) |
|
probably null |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,784 (GRCm39) |
V246M |
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,148,984 (GRCm39) |
Q588R |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
| Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
| Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or1p1c |
T |
A |
11: 74,161,049 (GRCm39) |
V278D |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
| Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
| Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
| Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
| Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
possibly damaging |
Het |
|
| Other mutations in Tfcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Tfcp2
|
APN |
15 |
100,411,059 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00916:Tfcp2
|
APN |
15 |
100,418,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01819:Tfcp2
|
APN |
15 |
100,402,320 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02075:Tfcp2
|
APN |
15 |
100,411,061 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02370:Tfcp2
|
APN |
15 |
100,410,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Tfcp2
|
APN |
15 |
100,411,991 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03001:Tfcp2
|
APN |
15 |
100,426,302 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0153:Tfcp2
|
UTSW |
15 |
100,412,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Tfcp2
|
UTSW |
15 |
100,423,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4302:Tfcp2
|
UTSW |
15 |
100,412,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4929:Tfcp2
|
UTSW |
15 |
100,426,370 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4965:Tfcp2
|
UTSW |
15 |
100,423,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Tfcp2
|
UTSW |
15 |
100,418,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Tfcp2
|
UTSW |
15 |
100,425,755 (GRCm39) |
splice site |
probably null |
|
|
R6091:Tfcp2
|
UTSW |
15 |
100,410,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Tfcp2
|
UTSW |
15 |
100,410,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Tfcp2
|
UTSW |
15 |
100,416,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7808:Tfcp2
|
UTSW |
15 |
100,420,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Tfcp2
|
UTSW |
15 |
100,420,329 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8841:Tfcp2
|
UTSW |
15 |
100,410,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Tfcp2
|
UTSW |
15 |
100,402,298 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9053:Tfcp2
|
UTSW |
15 |
100,396,092 (GRCm39) |
missense |
|
|
|
R9080:Tfcp2
|
UTSW |
15 |
100,395,968 (GRCm39) |
frame shift |
probably null |
|
|
R9293:Tfcp2
|
UTSW |
15 |
100,411,934 (GRCm39) |
missense |
probably benign |
|
|
X0011:Tfcp2
|
UTSW |
15 |
100,410,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0040:Tfcp2
|
UTSW |
15 |
100,416,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Tfcp2
|
UTSW |
15 |
100,410,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCCCTACAGAGTTGAC -3'
(R):5'- GACTTCCACTGTGCTGTCTG -3'
Sequencing Primer
(F):5'- AGAGTCTTTCCTGTCCTCCCATAC -3'
(R):5'- TCTGCCGGGTAGAGTTACGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation