Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:Klf4'

649043

Institutional Source

Beutler Lab

Gene Symbol

Klf4

Ensembl Gene

ENSMUSG00000003032

Gene Name

Kruppel-like transcription factor 4 (gut)

Synonyms

Gklf, Zie, EZF

MMRRC Submission

045987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55527143-55532466 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 55531755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123687 (fasta)

Gene Model

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

AlphaFold

Q60793

Predicted Effect

probably benign
Transcript: ENSMUST00000107619

SMART Domains

Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,579,691 (GRCm39)		probably benign	Het
AI467606	A	G	7: 126,691,593 (GRCm39)	E56G	probably damaging	Het
Ak9	C	T	10: 41,285,133 (GRCm39)	P1403S	unknown	Het
Akr1c14	A	G	13: 4,109,713 (GRCm39)	K28E	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Anks1b	A	T	10: 90,413,017 (GRCm39)	N55I	probably damaging	Het
Cabyr	T	C	18: 12,877,825 (GRCm39)	L54P	probably damaging	Het
Cachd1	A	T	4: 100,845,370 (GRCm39)	N954I	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Chst10	T	A	1: 38,910,772 (GRCm39)	I131L	probably damaging	Het
Cluh	A	T	11: 74,550,583 (GRCm39)	M270L	probably benign	Het
Dagla	T	C	19: 10,248,867 (GRCm39)	H29R	probably damaging	Het
Dusp5	A	G	19: 53,525,964 (GRCm39)	N202S	probably benign	Het
Elavl3	A	G	9: 21,947,612 (GRCm39)	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,045,885 (GRCm39)	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,699 (GRCm39)	L316P	probably damaging	Het
Gad1	T	A	2: 70,424,929 (GRCm39)		probably null	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hmcn1	A	G	1: 150,525,835 (GRCm39)	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,455,299 (GRCm39)	F203S	probably damaging	Het
Il16	T	A	7: 83,332,037 (GRCm39)	D181V	probably damaging	Het
Ip6k1	T	C	9: 107,901,631 (GRCm39)	F69L	probably damaging	Het
Lsr	T	G	7: 30,672,520 (GRCm39)	I27L	probably benign	Het
Mettl4	A	T	17: 95,040,622 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,200,987 (GRCm39)	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,642,307 (GRCm39)	G37D	probably damaging	Het
Or5w11	T	C	2: 87,459,248 (GRCm39)	V31A	probably benign	Het
Otogl	A	T	10: 107,642,663 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,133 (GRCm39)	D429G	probably damaging	Het
Pramel34	A	T	5: 93,785,887 (GRCm39)	V131D	probably benign	Het
Prelid2	A	T	18: 42,065,816 (GRCm39)	L73*	probably null	Het
Psg20	T	A	7: 18,415,102 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab24	C	T	13: 55,468,120 (GRCm39)		probably null	Het
Rag1	T	G	2: 101,472,691 (GRCm39)	K817T	probably benign	Het
Rgl2	T	C	17: 34,150,713 (GRCm39)	V57A	probably benign	Het
Ric1	T	C	19: 29,510,659 (GRCm39)	M80T	probably damaging	Het
Sh3rf3	T	C	10: 58,842,883 (GRCm39)	I283T	probably damaging	Het
Skint2	C	A	4: 112,483,187 (GRCm39)	N197K	probably damaging	Het
Snapc4	A	G	2: 26,266,730 (GRCm39)	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,157,462 (GRCm39)		probably benign	Het
Svip	T	C	7: 51,653,161 (GRCm39)	K51R	probably benign	Het
Syndig1	T	A	2: 149,741,708 (GRCm39)	V98E	probably benign	Het
Tshz1	A	T	18: 84,033,517 (GRCm39)	M297K	possibly damaging	Het
Ttn	A	G	2: 76,749,694 (GRCm39)	V3785A	probably benign	Het
Usf3	T	C	16: 44,035,924 (GRCm39)	S135P	probably damaging	Het
Vmn2r10	A	T	5: 109,144,306 (GRCm39)	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,405,099 (GRCm39)	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,579,409 (GRCm39)	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,251,599 (GRCm39)	I212V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAATGGAGGGCAATCC -3'
(R):5'- TGACTTTGGGGCTCAGGTAC -3'

Sequencing Primer
(F):5'- AAGGACTCTTGGTGACCCC -3'
(R):5'- GGCTCAGGTACCCCTCTC -3'

Posted On

2020-09-15