Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Klf4'

202612

Institutional Source

Beutler Lab

Gene Symbol

Klf4

Ensembl Gene

ENSMUSG00000003032

Gene Name

Kruppel-like transcription factor 4 (gut)

Synonyms

Gklf, Zie, EZF

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1815 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55527143-55532466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55530977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 45 (R45S)

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: R45S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: R45S

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: R36S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: R36S

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATAAAGTCTAGGTCCAGGAGGTC -3'
(R):5'- GCACTAGCTTGCAGGAGAAC -3'

Sequencing Primer
(F):5'- TCCAGGAGGTCGTTGAACTC -3'
(R):5'- ACCTCTTACCTTGGTGTTAGCTGAG -3'

Posted On

2014-06-23