Incidental Mutation 'R7010:Tfcp2l1'
| ID |
544948 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
R7010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118555675-118612898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118581457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 137
(S137P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027629]
|
| AlphaFold |
Q3UNW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027629
AA Change: S137P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: S137P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
| Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
| Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
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 |
|
|
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 |
|
|
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'- TCCATAGCAATTCCAGCCAG -3'
(R):5'- AATGTTCCTGACCTGGACCC -3'
Sequencing Primer
(F):5'- AGGCTGCCTGCTAGCGG -3'
(R):5'- GACCCCAAGTCCTCCCGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation