Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01928:Klf4'

180359

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klf4

Ensembl Gene

ENSMUSG00000003032

Gene Name

Kruppel-like transcription factor 4 (gut)

Synonyms

Gklf, Zie, EZF

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01928

Quality Score

Status

Chromosome

Chromosomal Location

55527143-55532466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55530949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 45 (L45P)

Ref Sequence

ENSEMBL: ENSMUSP00000116514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]

AlphaFold

Q60793

Predicted Effect

probably benign
Transcript: ENSMUST00000107619
AA Change: L54P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: L54P

Domain	Start	End	E-Value	Type
low complexity region	116	144	N/A	INTRINSIC
low complexity region	211	221	N/A	INTRINSIC
low complexity region	235	252	N/A	INTRINSIC
low complexity region	335	357	N/A	INTRINSIC
ZnF_C2H2	400	424	1.82e-3	SMART
ZnF_C2H2	430	454	4.3e-5	SMART
ZnF_C2H2	460	482	8.47e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129250
AA Change: L45P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	107	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132746
AA Change: L4P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032
AA Change: L4P

Domain	Start	End	E-Value	Type
low complexity region	66	82	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.] This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,633,342 (GRCm39)	T5024S	probably benign	Het
Adam23	C	A	1: 63,596,605 (GRCm39)	N562K	probably damaging	Het
Brd9	G	A	13: 74,103,630 (GRCm39)	M503I	probably benign	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Erich6	T	C	3: 58,528,692 (GRCm39)	I519M	probably damaging	Het
Fscn3	A	G	6: 28,430,181 (GRCm39)	E117G	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm45234	A	G	6: 124,721,967 (GRCm39)		probably benign	Het
Ighv1-47	T	A	12: 114,954,913 (GRCm39)	M56L	probably benign	Het
Ksr1	A	C	11: 78,935,665 (GRCm39)		probably null	Het
L3mbtl3	T	C	10: 26,206,143 (GRCm39)	N341S	unknown	Het
Mfsd12	T	C	10: 81,201,622 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,074,847 (GRCm39)		probably benign	Het
Ntrk2	T	A	13: 58,994,665 (GRCm39)	C194S	probably damaging	Het
Olfm4	G	A	14: 80,249,392 (GRCm39)	V170I	possibly damaging	Het
Onecut1	C	A	9: 74,796,815 (GRCm39)	Q445K	possibly damaging	Het
Or8g22	A	C	9: 38,958,709 (GRCm39)	D46E	unknown	Het
Pak6	A	G	2: 118,520,345 (GRCm39)	Q112R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 79,011,270 (GRCm39)	E124K	probably damaging	Het
Snx14	T	C	9: 88,263,565 (GRCm39)	T893A	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag17	T	C	3: 99,847,390 (GRCm39)		probably benign	Het
Tgds	T	C	14: 118,353,541 (GRCm39)	T259A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zc3h12a	A	G	4: 125,013,779 (GRCm39)	S362P	probably benign	Het
Zfyve16	A	G	13: 92,641,006 (GRCm39)	I1246T	probably damaging	Het

Other mutations in Klf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02602:Klf4	APN	4	55,530,595 (GRCm39)	missense	probably damaging	0.99
IGL03088:Klf4	APN	4	55,530,811 (GRCm39)	missense	probably damaging	1.00
IGL03088:Klf4	APN	4	55,530,758 (GRCm39)	missense	possibly damaging	0.52
IGL03185:Klf4	APN	4	55,530,911 (GRCm39)	missense	possibly damaging	0.65
R0846:Klf4	UTSW	4	55,530,191 (GRCm39)	missense	probably damaging	0.99
R1815:Klf4	UTSW	4	55,530,977 (GRCm39)	missense	probably benign	0.24
R1816:Klf4	UTSW	4	55,530,977 (GRCm39)	missense	probably benign	0.24
R4180:Klf4	UTSW	4	55,530,884 (GRCm39)	missense	possibly damaging	0.96
R4625:Klf4	UTSW	4	55,530,370 (GRCm39)	missense	probably benign	0.39
R4993:Klf4	UTSW	4	55,530,640 (GRCm39)	missense	probably damaging	1.00
R5021:Klf4	UTSW	4	55,530,970 (GRCm39)	missense	probably damaging	1.00
R5033:Klf4	UTSW	4	55,530,301 (GRCm39)	missense	probably benign	0.23
R5113:Klf4	UTSW	4	55,530,481 (GRCm39)	missense	possibly damaging	0.94
R6569:Klf4	UTSW	4	55,530,394 (GRCm39)	missense	probably damaging	1.00
R7941:Klf4	UTSW	4	55,531,755 (GRCm39)	intron	probably benign

Posted On

2014-05-07