Incidental Mutation 'IGL03092:Klf13'
| ID |
418424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klf13
|
| Ensembl Gene |
ENSMUSG00000052040 |
| Gene Name |
Kruppel-like transcription factor 13 |
| Synonyms |
Klf13, 9430029L20Rik, Bteb3, RFLAT-1, FKLF-2, NSLP1, RFLAT1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
IGL03092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
63536099-63588663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63541417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 237
(F237L)
|
| 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: F237L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067680
Gene: ENSMUSG00000052040
AA Change: F237L
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
| Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
| Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
| Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
| Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
| Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
| Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
| Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
| Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
| Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
| St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
| Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
Het |
|
| Other mutations in Klf13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2298:Klf13
|
UTSW |
7 |
63,541,504 (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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation