Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Klf7'

222176

Institutional Source

Beutler Lab

Gene Symbol

Klf7

Ensembl Gene

ENSMUSG00000025959

Gene Name

Kruppel-like transcription factor 7 (ubiquitous)

Synonyms

9830124P08Rik

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64068606-64161441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64117913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

Ref Sequence

ENSEMBL: ENSMUSP00000109720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086] [ENSMUST00000135075]

AlphaFold

Q99JB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055001
AA Change: V228A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: V228A

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: V228A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: V228A

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

probably benign
Transcript: ENSMUST00000135075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149820

Meta Mutation Damage Score

0.7142

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	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
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
R5782:Klf7	UTSW	1	64,081,570 (GRCm39)	missense	possibly damaging	0.81
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'- ACTTAGGGTCGGAAGTGAGTC -3'
(R):5'- TGACGTTGAAACTGGTGGC -3'

Sequencing Primer
(F):5'- GGAAGTGAGTCACTCCACTTC -3'
(R):5'- CCAAGAAGGCTTCCCTCAG -3'

Posted On

2014-08-25