Mutagenetix > Incidental Mutation

Incidental Mutation 'R5782:Klf7'

447764

Institutional Source

Beutler Lab

Gene Symbol

Klf7

Ensembl Gene

ENSMUSG00000025959

Gene Name

Kruppel-like transcription factor 7 (ubiquitous)

Synonyms

9830124P08Rik

MMRRC Submission

043379-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64068606-64161441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64081570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 253 (E253K)

Ref Sequence

ENSEMBL: ENSMUSP00000109720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086]

AlphaFold

Q99JB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055001
AA Change: E253K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: E253K

Domain	Start	End	E-Value	Type
low complexity region	134	145	N/A	INTRINSIC
low complexity region	162	194	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
ZnF_C2H2	218	242	3.83e-2	SMART
ZnF_C2H2	248	272	4.94e-5	SMART
ZnF_C2H2	278	300	6.78e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114086
AA Change: E253K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: E253K

Domain	Start	End	E-Value	Type
low complexity region	134	145	N/A	INTRINSIC
low complexity region	162	194	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
ZnF_C2H2	218	242	3.83e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184798

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,735 (GRCm39)	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,189,494 (GRCm39)		probably null	Het
Agt	A	T	8: 125,283,870 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,626,756 (GRCm39)	L142P	probably damaging	Het
Arhgef19	C	A	4: 140,983,623 (GRCm39)	Q719K	probably damaging	Het
Armh3	A	G	19: 45,874,466 (GRCm39)	V569A	probably benign	Het
Atrnl1	G	T	19: 57,741,718 (GRCm39)	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,935,373 (GRCm39)	Y325H	probably damaging	Het
Brwd1	A	T	16: 95,844,243 (GRCm39)	Y770*	probably null	Het
Cdc20	T	C	4: 118,290,239 (GRCm39)	E474G	probably benign	Het
Cdk5rap3	A	G	11: 96,802,412 (GRCm39)	L254P	probably benign	Het
Cep83	A	T	10: 94,584,894 (GRCm39)	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,606,731 (GRCm39)	D150A	probably damaging	Het
Cse1l	A	G	2: 166,770,921 (GRCm39)	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,060,858 (GRCm39)	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,462,142 (GRCm39)	V380I	probably benign	Het
Fancd2	A	G	6: 113,525,833 (GRCm39)	N302S	probably benign	Het
Foxa1	T	A	12: 57,589,302 (GRCm39)	H306L	probably benign	Het
Gse1	T	C	8: 121,293,260 (GRCm39)	S204P	probably damaging	Het
Hspa13	C	A	16: 75,554,985 (GRCm39)	R367L	probably damaging	Het
Kcnk2	T	G	1: 188,988,776 (GRCm39)	D267A	probably damaging	Het
Kctd18	A	G	1: 57,998,396 (GRCm39)	Y68H	probably damaging	Het
Khdc4	T	G	3: 88,618,985 (GRCm39)	V563G	probably damaging	Het
Lcn12	A	T	2: 25,383,769 (GRCm39)	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,586,386 (GRCm39)	R401W	probably damaging	Het
Lzts1	A	T	8: 69,593,350 (GRCm39)	S86T	probably benign	Het
Mtres1	T	C	10: 43,408,899 (GRCm39)	I81M	probably benign	Het
Mtus1	T	A	8: 41,535,764 (GRCm39)	I651F	probably damaging	Het
Myl2	T	A	5: 122,242,933 (GRCm39)	F106L	probably damaging	Het
Neb	T	A	2: 52,154,059 (GRCm39)	K2351*	probably null	Het
Or14c45	T	A	7: 86,176,421 (GRCm39)	I152N	probably damaging	Het
Or52e5	T	C	7: 104,718,956 (GRCm39)	I94T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Parg	A	T	14: 31,996,862 (GRCm39)	R318*	probably null	Het
Pcdhga3	C	T	18: 37,809,353 (GRCm39)	S602F	possibly damaging	Het
Pcnx2	A	G	8: 126,480,223 (GRCm39)	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,128,824 (GRCm39)	T3960A	probably benign	Het
Psen1	T	A	12: 83,759,233 (GRCm39)	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,457,041 (GRCm39)	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,376,496 (GRCm39)	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,664,840 (GRCm39)	E288D	possibly damaging	Het
Reln	C	T	5: 22,223,054 (GRCm39)	R993K	probably benign	Het
Saxo1	T	A	4: 86,364,044 (GRCm39)	L146F	probably damaging	Het
Six4	A	G	12: 73,150,832 (GRCm39)	V571A	probably benign	Het
Slc2a10	C	A	2: 165,356,758 (GRCm39)	Y139*	probably null	Het
Slc34a1	A	G	13: 55,550,501 (GRCm39)	I66V	possibly damaging	Het
Slfn8	G	T	11: 82,907,867 (GRCm39)	N46K	probably damaging	Het
Smc6	G	C	12: 11,340,835 (GRCm39)	A496P	probably damaging	Het
Stk31	T	G	6: 49,446,070 (GRCm39)	N902K	probably benign	Het
Stk36	T	A	1: 74,644,584 (GRCm39)	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,380,770 (GRCm39)	V271M	probably damaging	Het
Tenm4	A	G	7: 96,542,246 (GRCm39)	I1920V	probably benign	Het
Trbc2	A	G	6: 41,523,871 (GRCm39)		probably benign	Het
Trpc2	A	G	7: 101,733,186 (GRCm39)	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,639,634 (GRCm39)	N1654S	probably benign	Het
Tsku	A	T	7: 98,002,057 (GRCm39)	D91E	probably damaging	Het
Ttn	T	A	2: 76,606,355 (GRCm39)	R18151S	probably damaging	Het
Tyr	C	T	7: 87,142,224 (GRCm39)	C112Y	probably damaging	Het
Ubash3a	G	A	17: 31,454,477 (GRCm39)	G435S	probably benign	Het
Vav1	T	C	17: 57,603,001 (GRCm39)	I51T	probably damaging	Het
Vmn2r61	T	A	7: 41,949,253 (GRCm39)	C558S	probably damaging	Het
Zan	C	T	5: 137,418,269 (GRCm39)	C2943Y	unknown	Het
Zfp1002	T	C	2: 150,097,438 (GRCm39)	E25G	probably benign	Het
Zfp267	T	C	3: 36,219,128 (GRCm39)	S384P	possibly damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp575	C	A	7: 24,285,027 (GRCm39)	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,116,801 (GRCm39)		probably benign	Het
Zzz3	A	G	3: 152,133,737 (GRCm39)	E265G	possibly damaging	Het

Other mutations in Klf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Klf7	APN	1	64,081,476 (GRCm39)	missense	possibly damaging	0.65
IGL01684:Klf7	APN	1	64,160,051 (GRCm39)	splice site	probably benign
IGL01844:Klf7	APN	1	64,117,933 (GRCm39)	missense	probably benign	0.02
IGL03181:Klf7	APN	1	64,074,885 (GRCm39)	missense	possibly damaging	0.88
Esurientes	UTSW	1	64,118,372 (GRCm39)	missense	possibly damaging	0.78
C9142:Klf7	UTSW	1	64,118,316 (GRCm39)	missense	possibly damaging	0.47
R1736:Klf7	UTSW	1	64,118,372 (GRCm39)	missense	possibly damaging	0.78
R1737:Klf7	UTSW	1	64,118,372 (GRCm39)	missense	possibly damaging	0.78
R1744:Klf7	UTSW	1	64,118,372 (GRCm39)	missense	possibly damaging	0.78
R2048:Klf7	UTSW	1	64,117,913 (GRCm39)	missense	possibly damaging	0.65
R2891:Klf7	UTSW	1	64,081,521 (GRCm39)	missense	probably damaging	1.00
R5055:Klf7	UTSW	1	64,118,439 (GRCm39)	missense	probably benign	0.08
R5613:Klf7	UTSW	1	64,081,555 (GRCm39)	missense	probably damaging	0.98
R7369:Klf7	UTSW	1	64,160,300 (GRCm39)	critical splice acceptor site	probably null
R7470:Klf7	UTSW	1	64,081,472 (GRCm39)	critical splice donor site	probably null
R8501:Klf7	UTSW	1	64,118,322 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCCTGCTTGCTACTAGAC -3'
(R):5'- ATGGCTCAGAGGTTTGAAGG -3'

Sequencing Primer
(F):5'- GCTTGCTACTAGACCCAGATC -3'
(R):5'- ACACACAGCACCAGGGGG -3'

Posted On

2016-12-15