Incidental Mutation 'R5021:Klf4'
| ID |
389182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf4
|
| Ensembl Gene |
ENSMUSG00000003032 |
| Gene Name |
Kruppel-like transcription factor 4 (gut) |
| Synonyms |
Gklf, Zie, EZF |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
55527143-55532466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55530970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 38
(E38G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107619]
[ENSMUST00000129250]
[ENSMUST00000132746]
|
| AlphaFold |
Q60793 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107619
AA Change: E47G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: E47G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
400 |
424 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
430 |
454 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
8.47e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129250
AA Change: E38G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132746
|
| SMART Domains |
Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
82 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
probably damaging |
Het |
|
| Other mutations in Klf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01928:Klf4
|
APN |
4 |
55,530,949 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02602:Klf4
|
APN |
4 |
55,530,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03088:Klf4
|
APN |
4 |
55,530,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Klf4
|
APN |
4 |
55,530,758 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03185:Klf4
|
APN |
4 |
55,530,911 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0846:Klf4
|
UTSW |
4 |
55,530,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1815:Klf4
|
UTSW |
4 |
55,530,977 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1816:Klf4
|
UTSW |
4 |
55,530,977 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4180:Klf4
|
UTSW |
4 |
55,530,884 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4625:Klf4
|
UTSW |
4 |
55,530,370 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4993:Klf4
|
UTSW |
4 |
55,530,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Klf4
|
UTSW |
4 |
55,530,301 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5113:Klf4
|
UTSW |
4 |
55,530,481 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6569:Klf4
|
UTSW |
4 |
55,530,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Klf4
|
UTSW |
4 |
55,531,755 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAAAGTCTAGGTCCAGGAGGTC -3'
(R):5'- CACTAGCTTGCAGGAGAACG -3'
Sequencing Primer
(F):5'- TCCAGGAGGTCGTTGAACTC -3'
(R):5'- ACCTCTTACCTTGGTGTTAGCTGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation