Incidental Mutation 'IGL01725:Tfcp2l1'
| ID |
105244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfcp2l1
|
| Ensembl Gene |
ENSMUSG00000026380 |
| Gene Name |
transcription factor CP2-like 1 |
| Synonyms |
D930018N21Rik, 4932442M07Rik, LBP-9, Cp2l1, Crtr-1, 1810030F05Rik, Tcfcp2l1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
IGL01725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
118555675-118612898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118596366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 367
(V367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027629]
|
| AlphaFold |
Q3UNW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027629
AA Change: V367A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: V367A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
27 |
240 |
2e-58 |
PFAM |
|
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
416 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for either a knock-out or a gene-trapped allele display a phenotype characterized by postnatal growth retardation, renal hypoplasia, impaired maturation of the ducts in the salivary gland and kidney, abnormal composition of saliva and urine, and postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,364,745 (GRCm39) |
T334A |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,735,241 (GRCm39) |
R52* |
probably null |
Het |
| Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
| Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
| Pi16 |
T |
A |
17: 29,545,294 (GRCm39) |
S186T |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
| Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,017,508 (GRCm39) |
V435A |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
| Tas2r120 |
C |
T |
6: 132,634,052 (GRCm39) |
R45* |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
probably damaging |
Het |
|
| Other mutations in Tfcp2l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01079:Tfcp2l1
|
APN |
1 |
118,580,612 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02281:Tfcp2l1
|
APN |
1 |
118,597,110 (GRCm39) |
splice site |
probably benign |
|
|
R1272:Tfcp2l1
|
UTSW |
1 |
118,560,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Tfcp2l1
|
UTSW |
1 |
118,603,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Tfcp2l1
|
UTSW |
1 |
118,597,119 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1965:Tfcp2l1
|
UTSW |
1 |
118,580,653 (GRCm39) |
nonsense |
probably null |
|
|
R3928:Tfcp2l1
|
UTSW |
1 |
118,597,206 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4236:Tfcp2l1
|
UTSW |
1 |
118,589,795 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4678:Tfcp2l1
|
UTSW |
1 |
118,596,378 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4839:Tfcp2l1
|
UTSW |
1 |
118,597,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4858:Tfcp2l1
|
UTSW |
1 |
118,597,239 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5587:Tfcp2l1
|
UTSW |
1 |
118,592,492 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5679:Tfcp2l1
|
UTSW |
1 |
118,596,377 (GRCm39) |
missense |
probably benign |
|
|
R6899:Tfcp2l1
|
UTSW |
1 |
118,603,305 (GRCm39) |
missense |
probably benign |
|
|
R7010:Tfcp2l1
|
UTSW |
1 |
118,581,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Tfcp2l1
|
UTSW |
1 |
118,596,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Tfcp2l1
|
UTSW |
1 |
118,592,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Tfcp2l1
|
UTSW |
1 |
118,603,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Tfcp2l1
|
UTSW |
1 |
118,560,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Tfcp2l1
|
UTSW |
1 |
118,560,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Tfcp2l1
|
UTSW |
1 |
118,596,447 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Tfcp2l1
|
UTSW |
1 |
118,584,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation