Incidental Mutation 'R1272:Tfcp2l1'
| ID |
151335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfcp2l1
|
| Ensembl Gene |
ENSMUSG00000026380 |
| Gene Name |
transcription factor CP2-like 1 |
| Synonyms |
D930018N21Rik, 4932442M07Rik, LBP-9, Cp2l1, Crtr-1, 1810030F05Rik, Tcfcp2l1 |
| MMRRC Submission |
039338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R1272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118555675-118612898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118560043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 45
(P45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027629]
|
| AlphaFold |
Q3UNW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027629
AA Change: P45Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: P45Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190652
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,313,977 (GRCm39) |
L567P |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,746 (GRCm39) |
L75P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,217,006 (GRCm39) |
V110E |
possibly damaging |
Het |
| Bzw1 |
T |
C |
1: 58,436,979 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,320,714 (GRCm39) |
K1347R |
probably damaging |
Het |
| Cd320 |
T |
C |
17: 34,067,138 (GRCm39) |
V209A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,620 (GRCm39) |
E1156G |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,403,477 (GRCm39) |
D1559G |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,680,404 (GRCm39) |
W19R |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 79,036,904 (GRCm39) |
Q68* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,357,795 (GRCm39) |
D397N |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mapre3 |
T |
A |
5: 31,019,232 (GRCm39) |
N25K |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,143 (GRCm39) |
K964* |
probably null |
Het |
| Nav3 |
G |
C |
10: 109,572,860 (GRCm39) |
H1600D |
probably damaging |
Het |
| Rdh10 |
C |
A |
1: 16,178,240 (GRCm39) |
H171N |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,442,289 (GRCm39) |
M513T |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,651,496 (GRCm39) |
E654G |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Usp54 |
C |
T |
14: 20,611,178 (GRCm39) |
V1213I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,062 (GRCm39) |
Q777L |
probably benign |
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 |
|
IGL01725:Tfcp2l1
|
APN |
1 |
118,596,366 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02281:Tfcp2l1
|
APN |
1 |
118,597,110 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAGGTAGGCAACAACTTTACAC -3'
(R):5'- AGGGTCTTGCACATCATCTGCTAAC -3'
Sequencing Primer
(F):5'- CATACAGTAATGGTTGCATCTGG -3'
(R):5'- GCACATCATCTGCTAACTATCCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation