Incidental Mutation 'R2298:Klf13'
| ID |
245224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf13
|
| Ensembl Gene |
ENSMUSG00000052040 |
| Gene Name |
Kruppel-like transcription factor 13 |
| Synonyms |
Klf13, 9430029L20Rik, Bteb3, RFLAT-1, FKLF-2, NSLP1, RFLAT1 |
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.370)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
63536099-63588663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63541504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 208
(K208E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063694]
[ENSMUST00000183817]
[ENSMUST00000185175]
|
| AlphaFold |
Q9JJZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063694
AA Change: K208E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067680
Gene: ENSMUSG00000052040
AA Change: K208E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
168 |
192 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
198 |
222 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
2.75e-3 |
SMART |
|
low complexity region
|
260 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183782
|
| Predicted Effect |
silent
Transcript: ENSMUST00000183817
|
| SMART Domains |
Protein: ENSMUSP00000139049
Gene: ENSMUSG00000052040
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
29 |
53 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
59 |
81 |
2.75e-3 |
SMART |
|
low complexity region
|
91 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185175
|
| SMART Domains |
Protein: ENSMUSP00000140381
Gene: ENSMUSG00000052040
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene are grossly normal. Prolonged thymocyte survival leads to an enlarged thymus and spleen. Mice homozygous for a different allele exhibit splenomegaly and abnormal erythropoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
probably benign |
Het |
|
| Other mutations in Klf13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03092:Klf13
|
APN |
7 |
63,541,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Klf13
|
UTSW |
7 |
63,541,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Klf13
|
UTSW |
7 |
63,587,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0762:Klf13
|
UTSW |
7 |
63,541,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Klf13
|
UTSW |
7 |
63,541,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Klf13
|
UTSW |
7 |
63,587,718 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5644:Klf13
|
UTSW |
7 |
63,541,308 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5645:Klf13
|
UTSW |
7 |
63,541,348 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7400:Klf13
|
UTSW |
7 |
63,587,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7431:Klf13
|
UTSW |
7 |
63,541,504 (GRCm39) |
nonsense |
probably null |
|
|
R8085:Klf13
|
UTSW |
7 |
63,541,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Klf13
|
UTSW |
7 |
63,574,456 (GRCm39) |
nonsense |
probably null |
|
|
R9364:Klf13
|
UTSW |
7 |
63,574,609 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTTCCTATTACCAAAGGGG -3'
(R):5'- TTGTCAGGTGACCCCGAGTG -3'
Sequencing Primer
(F):5'- ATCGGAGCGGCTGTAGTC -3'
(R):5'- CCGAGTGTCCGTGGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation