Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Klf5'

590374

Institutional Source

Beutler Lab

Gene Symbol

Klf5

Ensembl Gene

ENSMUSG00000005148

Gene Name

Kruppel-like transcription factor 5

Synonyms

IKLF, Bteb2, 4930520J07Rik, CKLF

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99536127-99550848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99550614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 397 (E397G)

Ref Sequence

ENSEMBL: ENSMUSP00000005279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005279]

AlphaFold

Q9Z0Z7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005279
AA Change: E397G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005279
Gene: ENSMUSG00000005148
AA Change: E397G

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
low complexity region	166	173	N/A	INTRINSIC
low complexity region	290	301	N/A	INTRINSIC
ZnF_C2H2	362	386	3.83e-2	SMART
ZnF_C2H2	392	416	2.47e-5	SMART
ZnF_C2H2	422	444	1.2e-3	SMART

Meta Mutation Damage Score

0.1923

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice die during gestation, while heterozygotes exhibit abnormal cardiovascular remodeling after external stress. Mice homozygous for a floxed allele activated in the prostate exhibit increased cell proliferation and hyperplasia in the prostate without neoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	Het

Other mutations in Klf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Klf5	APN	14	99,539,157 (GRCm39)	missense	probably benign	0.01
IGL02380:Klf5	APN	14	99,538,894 (GRCm39)	missense	possibly damaging	0.67
Bernie	UTSW	14	99,539,666 (GRCm39)	missense	probably damaging	1.00
I0000:Klf5	UTSW	14	99,540,911 (GRCm39)	missense	probably damaging	1.00
R0133:Klf5	UTSW	14	99,539,318 (GRCm39)	missense	probably benign
R1672:Klf5	UTSW	14	99,538,986 (GRCm39)	missense	probably damaging	0.98
R1914:Klf5	UTSW	14	99,539,357 (GRCm39)	missense	probably benign	0.01
R2193:Klf5	UTSW	14	99,536,406 (GRCm39)	unclassified	probably benign
R3892:Klf5	UTSW	14	99,536,509 (GRCm39)	missense	probably benign	0.00
R4446:Klf5	UTSW	14	99,539,666 (GRCm39)	missense	probably damaging	1.00
R5437:Klf5	UTSW	14	99,538,895 (GRCm39)	nonsense	probably null
R5707:Klf5	UTSW	14	99,538,944 (GRCm39)	missense	probably benign
R6475:Klf5	UTSW	14	99,538,817 (GRCm39)	missense	probably benign	0.00
R6552:Klf5	UTSW	14	99,539,078 (GRCm39)	missense	probably benign
R6982:Klf5	UTSW	14	99,550,671 (GRCm39)	missense	probably damaging	1.00
R7250:Klf5	UTSW	14	99,536,455 (GRCm39)	missense	probably benign	0.00
R7938:Klf5	UTSW	14	99,536,444 (GRCm39)	missense	probably damaging	0.98
R8272:Klf5	UTSW	14	99,539,540 (GRCm39)	missense	possibly damaging	0.67
R8396:Klf5	UTSW	14	99,539,670 (GRCm39)	missense	possibly damaging	0.95
R8898:Klf5	UTSW	14	99,538,922 (GRCm39)	missense	probably damaging	0.99
R9015:Klf5	UTSW	14	99,540,919 (GRCm39)	makesense	probably null
R9251:Klf5	UTSW	14	99,538,824 (GRCm39)	missense	possibly damaging	0.95
R9560:Klf5	UTSW	14	99,539,034 (GRCm39)	missense	probably benign	0.06
R9717:Klf5	UTSW	14	99,539,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGTACATTATCCTCGCCG -3'
(R):5'- TGCGGTTTAAAGGATGGCAG -3'

Sequencing Primer
(F):5'- GCTACTTGTATATCATCCTCGCCG -3'
(R):5'- GGACTGCAAGGCGTCAG -3'

Posted On

2019-10-24