Incidental Mutation 'IGL02531:Klf1'
| ID |
297325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klf1
|
| Ensembl Gene |
ENSMUSG00000054191 |
| Gene Name |
Kruppel-like transcription factor 1 (erythroid) |
| Synonyms |
Eklf, Nan |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85628611-85631920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85631437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 334
(F334I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003910]
[ENSMUST00000067060]
[ENSMUST00000109744]
[ENSMUST00000134569]
[ENSMUST00000145292]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003910
|
| SMART Domains |
Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
21 |
349 |
5.8e-116 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067060
AA Change: F334I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: F334I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EKLF_TAD1
|
40 |
66 |
9e-23 |
PFAM |
|
Pfam:EKLF_TAD2
|
78 |
103 |
4.9e-16 |
PFAM |
|
low complexity region
|
153 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
293 |
317 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
323 |
347 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.34e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109744
|
| SMART Domains |
Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNase_II
|
9 |
328 |
4.8e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134569
|
| SMART Domains |
Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
119 |
6.6e-32 |
PFAM |
|
Pfam:DNase_II
|
115 |
182 |
4.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145292
|
| SMART Domains |
Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
97 |
2.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
PHENOTYPE: Nullizygous mice exhibit fatal anemia due to impaired hemopoiesis in fetal liver. Homozygotes for an ENU-induced allele die at E10-11 with severely impaired hemopoiesis while surviving heterozygotes show hemolytic anemia with reduced RBC counts, hematocrit and hemoglobin, and altered RBC morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
| Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
| Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
| Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
| Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
| Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
| Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
probably damaging |
Het |
|
| Other mutations in Klf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Klf1
|
APN |
8 |
85,628,628 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02377:Klf1
|
APN |
8 |
85,631,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03346:Klf1
|
APN |
8 |
85,629,561 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2137:Klf1
|
UTSW |
8 |
85,629,775 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4907:Klf1
|
UTSW |
8 |
85,629,814 (GRCm39) |
nonsense |
probably null |
|
|
R5269:Klf1
|
UTSW |
8 |
85,629,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6940:Klf1
|
UTSW |
8 |
85,628,724 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7036:Klf1
|
UTSW |
8 |
85,629,379 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7379:Klf1
|
UTSW |
8 |
85,629,846 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8062:Klf1
|
UTSW |
8 |
85,629,928 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8951:Klf1
|
UTSW |
8 |
85,629,912 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9151:Klf1
|
UTSW |
8 |
85,629,954 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9664:Klf1
|
UTSW |
8 |
85,630,061 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Klf1
|
UTSW |
8 |
85,629,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation