Incidental Mutation 'R5679:Tfcp2l1'
| ID |
442916 |
| 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 |
043176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R5679 (G1)
|
| Quality Score |
185 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118555675-118612898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118596377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 371
(M371V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027629]
|
| AlphaFold |
Q3UNW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027629
AA Change: M371V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: M371V
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
G |
A |
11: 61,107,994 (GRCm39) |
R346Q |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,953,474 (GRCm39) |
F304L |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,729 (GRCm39) |
H370L |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
| Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
| Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
| Ipo13 |
A |
T |
4: 117,752,029 (GRCm39) |
W903R |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
| Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
| Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
| Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
| Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
| Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
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 |
|
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 |
|
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'- AAGCTGTAAAGATCCGTCAGG -3'
(R):5'- AGCGCCAAGTCACCTTTCTG -3'
Sequencing Primer
(F):5'- CGTCAGGACTGGACTCTGTC -3'
(R):5'- ATGAACTACCTGCTGCCATGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation