Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Klf1'

379116

Institutional Source

Beutler Lab

Gene Symbol

Klf1

Ensembl Gene

ENSMUSG00000054191

Gene Name

Kruppel-like transcription factor 1 (erythroid)

Synonyms

Eklf, Nan

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4907 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

85628611-85631920 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 85629814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 213 (S213*)

Ref Sequence

ENSEMBL: ENSMUSP00000064366 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067060
AA Change: S213*

SMART Domains

Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: S213*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Dync2i2	A	G	2: 29,922,472 (GRCm39)		probably null	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Nfatc3	C	A	8: 106,806,359 (GRCm39)	H401Q	probably damaging	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pck1	C	T	2: 172,998,816 (GRCm39)	T358I	probably damaging	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pgr	G	A	9: 8,947,044 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,728,538 (GRCm39)	T450A	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTTCCAGGTTCCGAGTC -3'
(R):5'- TTAGGTGCCAAAGTTCGCC -3'

Sequencing Primer
(F):5'- AGTGGCACAGTTCGAGC -3'
(R):5'- CAAAGTTCGCCGGCTGC -3'

Posted On

2016-04-15