Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Klf7'

199694

Institutional Source

Beutler Lab

Gene Symbol

Klf7

Ensembl Gene

ENSMUSG00000025959

Gene Name

Kruppel-like transcription factor 7 (ubiquitous)

Synonyms

9830124P08Rik

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64068606-64161441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64118372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 75 (R75L)

Ref Sequence

ENSEMBL: ENSMUSP00000120537 (fasta)

Gene Model

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

AlphaFold

Q99JB0

Predicted Effect

probably benign
Transcript: ENSMUST00000055001
AA Change: R75L

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: R75L

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

probably benign
Transcript: ENSMUST00000114086
AA Change: R75L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: R75L

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

possibly damaging
Transcript: ENSMUST00000135075
AA Change: R75L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149820

Meta Mutation Damage Score

0.1365

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	probably benign	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
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
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'- CAGTTTCAACGTCACTGTGCCATC -3'
(R):5'- TCCTGGTTTGCCTGTCAATACATGC -3'

Sequencing Primer
(F):5'- TTTGACCAGATGGCGGC -3'
(R):5'- CATGGTGTCCTGGTGTCC -3'

Posted On

2014-05-23