Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Klf4'

346476

Institutional Source

Beutler Lab

Gene Symbol

Klf4

Ensembl Gene

ENSMUSG00000003032

Gene Name

Kruppel-like transcription factor 4 (gut)

Synonyms

Gklf, Zie, EZF

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4625 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

55527143-55532466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55530370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000103245 (fasta)

Gene Model

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

AlphaFold

Q60793

PDB Structure

CRYSTAL STRUCTURE OF THE ZINC FINGER DOMAIN OF KLF4 BOUND TO ITS TARGET DNA [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ZINC FINGER DOMAIN OF KLF4 BOUND TO ITS TARGET DNA [X-RAY DIFFRACTION]
Structure of Klf4 zinc finger DNA binding domain in complex with methylated DNA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000107619
AA Change: V247A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: V247A

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

SMART Domains

Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132746

SMART Domains

Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032

Domain	Start	End	E-Value	Type
low complexity region	66	82	N/A	INTRINSIC

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 144,981,693 (GRCm39)	E176A	possibly damaging	Het
Abcc2	A	G	19: 43,792,178 (GRCm39)	I320V	probably benign	Het
Abtb1	C	T	6: 88,813,269 (GRCm39)	A466T	probably benign	Het
Ak6	C	A	13: 100,792,181 (GRCm39)	T208K	probably benign	Het
Albfm1	G	T	5: 90,719,611 (GRCm39)	V236L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anapc15	T	A	7: 101,550,239 (GRCm39)		probably benign	Het
Anxa2r1	G	T	13: 120,496,765 (GRCm39)	R35S	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aspn	A	G	13: 49,710,901 (GRCm39)	D182G	probably benign	Het
Astn1	A	T	1: 158,407,864 (GRCm39)	D607V	probably damaging	Het
Btnl1	A	G	17: 34,598,725 (GRCm39)	I114V	probably null	Het
Ccdc159	A	G	9: 21,840,762 (GRCm39)	S110G	probably benign	Het
Cdh18	A	C	15: 22,714,128 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,526 (GRCm39)	I665T	probably damaging	Het
Cenpk	T	A	13: 104,385,901 (GRCm39)	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,811,412 (GRCm39)	L1397P	probably damaging	Het
Chia1	A	C	3: 106,036,256 (GRCm39)	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,744,651 (GRCm39)	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,354,487 (GRCm39)	S2244P	probably damaging	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Gm5087	T	C	14: 13,158,798 (GRCm38)		noncoding transcript	Het
Gm7135	A	C	1: 97,387,351 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,358,291 (GRCm39)	Y153*	probably null	Het
Htt	T	A	5: 34,987,129 (GRCm39)	V1116E	probably damaging	Het
Ikzf5	A	T	7: 130,995,482 (GRCm39)		probably null	Het
Kcnb1	A	G	2: 167,030,153 (GRCm39)	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Kif1a	A	T	1: 92,970,381 (GRCm39)	D952E	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lamc1	A	G	1: 153,118,442 (GRCm39)	S910P	probably benign	Het
Lin9	T	A	1: 180,516,845 (GRCm39)	N512K	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,523,250 (GRCm39)	V174A	probably benign	Het
Myo1g	T	C	11: 6,462,240 (GRCm39)	E574G	probably damaging	Het
Nphp3	G	A	9: 103,913,358 (GRCm39)	G997R	possibly damaging	Het
Obscn	A	G	11: 58,958,084 (GRCm39)	C3748R	probably damaging	Het
Or1j17	A	G	2: 36,578,083 (GRCm39)	D23G	probably benign	Het
Or5p69	T	C	7: 107,966,895 (GRCm39)	L66P	probably damaging	Het
Or8g28	A	T	9: 39,169,614 (GRCm39)	M118K	probably damaging	Het
Or9s18	T	A	13: 65,300,674 (GRCm39)	V212D	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Ptch1	T	C	13: 63,670,978 (GRCm39)	T851A	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rbp3	A	G	14: 33,678,056 (GRCm39)	Q668R	probably benign	Het
Rfwd3	T	C	8: 112,002,990 (GRCm39)	T611A	probably benign	Het
Rhcg	T	A	7: 79,251,352 (GRCm39)	D219V	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Slc25a26	G	T	6: 94,484,633 (GRCm39)	V58F	probably damaging	Het
Smarca5	T	A	8: 81,437,192 (GRCm39)	K721N	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Speer2	A	T	16: 69,655,642 (GRCm39)	Y61*	probably null	Het
Spef2	T	C	15: 9,647,524 (GRCm39)	Y961C	probably damaging	Het
Sptb	C	A	12: 76,634,100 (GRCm39)		probably null	Het
Svep1	T	G	4: 58,072,698 (GRCm39)	N2204H	probably damaging	Het
Tex56	G	A	13: 35,116,448 (GRCm39)	G66S	probably damaging	Het
Tmem86a	C	A	7: 46,702,613 (GRCm39)	P13T	probably damaging	Het
Tmt1a	A	T	15: 100,210,939 (GRCm39)	Q170L	probably damaging	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tox2	G	A	2: 163,156,336 (GRCm39)	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,963 (GRCm39)	E762D	probably benign	Het
Tshb	C	T	3: 102,685,461 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,189,131 (GRCm39)	L163*	probably null	Het
Twsg1	G	T	17: 66,236,546 (GRCm39)	D161E	probably benign	Het
Uchl4	A	C	9: 64,143,080 (GRCm39)	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,268,443 (GRCm39)	W9R	probably benign	Het
Yju2	T	A	17: 56,271,598 (GRCm39)	L173Q	probably damaging	Het
Zfp14	G	A	7: 29,738,020 (GRCm39)	Q322*	probably null	Het
Znhit3	G	A	11: 84,802,316 (GRCm39)	P145S	probably damaging	Het

Other mutations in Klf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Klf4	APN	4	55,530,949 (GRCm39)	missense	probably benign	0.14
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCAGTGTAGGGGTAGTCC -3'
(R):5'- GCGGACATCAATGACGTGAG -3'

Sequencing Primer
(F):5'- CCAGGGGGAAGTCGTGTG -3'
(R):5'- ATCAATGACGTGAGCCCCTCG -3'

Posted On

2015-09-25