Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Klf1'

5000

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) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

85628611-85631920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85628628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 9 (P9S)

Ref Sequence

ENSEMBL: ENSMUSP00000064366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067060]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067060
AA Change: P9S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: P9S

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Cdsn	A	T	17: 35,865,740 (GRCm39)	S90C	unknown	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,341,321 (GRCm39)	Y84C	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Nkiras2	G	A	11: 100,515,808 (GRCm39)	G45D	probably damaging	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Pm20d1	A	G	1: 131,741,738 (GRCm39)		probably benign	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slc38a1	A	G	15: 96,483,504 (GRCm39)	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Klf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Klf1	APN	8	85,631,561 (GRCm39)	missense	probably damaging	0.98
IGL02531:Klf1	APN	8	85,631,437 (GRCm39)	missense	probably damaging	0.97
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

2012-04-20