Incidental Mutation 'R5196:Tfcp2'
| ID |
470586 |
| 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 |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100395893-100449889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100418595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 189
(V189A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009877]
[ENSMUST00000229265]
[ENSMUST00000229581]
[ENSMUST00000229696]
|
| AlphaFold |
Q9ERA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009877
AA Change: V189A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: V189A
| 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 benign
Transcript: ENSMUST00000229265
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229581
AA Change: V189A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229696
AA Change: V189A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230363
|
| Meta Mutation Damage Score |
0.4504 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
|
R2879:Tfcp2
|
UTSW |
15 |
100,449,201 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AACGGTTTTAAGGCGGGCAC -3'
(R):5'- AGAGGACTGCATTCCTGTGG -3'
Sequencing Primer
(F):5'- CACACGGCCTGGGACAC -3'
(R):5'- TGGTTCTTCACAGCGGC -3'
|
| Posted On |
2017-03-16 |
Incidental Mutation