Mutagenetix > Incidental Mutation

Incidental Mutation 'R1737:Klf7'

199750

Institutional Source

Beutler Lab

Gene Symbol

Klf7

Ensembl Gene

ENSMUSG00000025959

Gene Name

Kruppel-like transcription factor 7 (ubiquitous)

Synonyms

9830124P08Rik

MMRRC Submission

039769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1737 (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: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Ak7	G	A	12: 105,708,591 (GRCm39)	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,192,453 (GRCm39)	E436V	possibly damaging	Het
Apc	C	A	18: 34,450,075 (GRCm39)	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,476,986 (GRCm39)		probably benign	Het
Bahd1	T	C	2: 118,746,404 (GRCm39)	S8P	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Capn10	T	C	1: 92,862,677 (GRCm39)	Y28H	probably benign	Het
Cdh10	A	T	15: 18,964,149 (GRCm39)	I104F	probably damaging	Het
Cep170b	A	G	12: 112,703,061 (GRCm39)	D508G	possibly damaging	Het
Ces2a	G	T	8: 105,467,456 (GRCm39)	A494S	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cltc	G	A	11: 86,624,553 (GRCm39)	T123M	probably damaging	Het
Cnot1	A	G	8: 96,474,904 (GRCm39)	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,610,733 (GRCm39)	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,208,357 (GRCm39)		probably benign	Het
Cyp7a1	T	A	4: 6,272,848 (GRCm39)	T122S	probably benign	Het
Dock4	A	G	12: 40,857,000 (GRCm39)		probably null	Het
Eid2	T	C	7: 27,967,924 (GRCm39)	V182A	possibly damaging	Het
Eloa	A	T	4: 135,738,081 (GRCm39)	V293D	probably benign	Het
Enkur	G	A	2: 21,199,106 (GRCm39)	P143S	probably damaging	Het
Ep300	T	C	15: 81,510,548 (GRCm39)	Y99H	probably damaging	Het
Fbxw5	C	A	2: 25,393,596 (GRCm39)	L66I	probably benign	Het
Flg2	A	T	3: 93,110,928 (GRCm39)	R985S	unknown	Het
Fscb	A	T	12: 64,521,355 (GRCm39)	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,679,296 (GRCm39)	N3S	probably benign	Het
H2-Q7	A	C	17: 35,658,602 (GRCm39)	Y80S	probably damaging	Het
H60c	A	T	10: 3,209,914 (GRCm39)	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,618,862 (GRCm39)	V361E	probably damaging	Het
Ice1	A	C	13: 70,754,444 (GRCm39)	C547W	probably damaging	Het
Itprid1	A	T	6: 55,945,289 (GRCm39)	D670V	probably damaging	Het
Jmy	A	G	13: 93,635,303 (GRCm39)	V171A	probably damaging	Het
Klk1b1	A	T	7: 43,619,783 (GRCm39)	Q114L	probably benign	Het
Krt10	A	G	11: 99,278,213 (GRCm39)	M280T	possibly damaging	Het
Lama1	G	A	17: 68,109,916 (GRCm39)	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,396,225 (GRCm39)	P117S	possibly damaging	Het
Med18	A	T	4: 132,187,420 (GRCm39)	S71R	probably damaging	Het
Mov10l1	T	A	15: 88,895,607 (GRCm39)	I643N	possibly damaging	Het
Nfib	T	C	4: 82,416,826 (GRCm39)	K70E	probably damaging	Het
Nr3c2	A	C	8: 77,634,958 (GRCm39)	S20R	probably benign	Het
Nr6a1	A	T	2: 38,628,955 (GRCm39)	F356L	probably benign	Het
Oca2	G	A	7: 55,978,533 (GRCm39)	R567H	probably damaging	Het
Or10k2	A	G	8: 84,268,045 (GRCm39)	S91G	probably benign	Het
Or1e35	T	A	11: 73,797,911 (GRCm39)	M136L	possibly damaging	Het
Or1p1	T	C	11: 74,179,637 (GRCm39)	L55P	probably damaging	Het
Or6c88	T	A	10: 129,406,697 (GRCm39)	Y58N	probably damaging	Het
Or8g33	T	C	9: 39,338,254 (GRCm39)	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,546,009 (GRCm39)	T362A	probably benign	Het
Pip5k1b	A	T	19: 24,374,404 (GRCm39)	V59E	probably damaging	Het
Pkhd1l1	G	A	15: 44,410,905 (GRCm39)		probably null	Het
Prr36	T	C	8: 4,264,370 (GRCm39)		probably benign	Het
Ptger2	A	G	14: 45,239,228 (GRCm39)	T289A	probably benign	Het
Rad18	A	G	6: 112,658,498 (GRCm39)	F136L	probably damaging	Het
Rhbg	T	A	3: 88,153,181 (GRCm39)	S258C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,739 (GRCm39)	I34M	possibly damaging	Het
Senp7	C	A	16: 55,944,162 (GRCm39)	T135K	probably damaging	Het
Slc20a2	A	G	8: 23,035,582 (GRCm39)	I193M	probably damaging	Het
Slc27a1	G	A	8: 72,023,504 (GRCm39)	V47I	probably benign	Het
Slc9a5	G	A	8: 106,094,766 (GRCm39)	V786M	probably damaging	Het
Smyd1	A	G	6: 71,193,875 (GRCm39)	L350P	probably damaging	Het
Ston2	A	T	12: 91,614,681 (GRCm39)	F576I	probably damaging	Het
Sulf2	A	T	2: 165,924,598 (GRCm39)	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,157,481 (GRCm39)	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,169,201 (GRCm39)	N256I	probably damaging	Het
Uspl1	T	A	5: 149,138,668 (GRCm39)	C349S	probably damaging	Het
Vcl	T	C	14: 21,070,604 (GRCm39)	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,614,060 (GRCm39)	F85I	probably benign	Het
Zfp318	A	G	17: 46,710,403 (GRCm39)	T709A	probably benign	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably 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
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'- AGTTTCAACGTCACTGTGCCATCC -3'
(R):5'- TCCTGGTTTGCCTGTCAATACATGC -3'

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

Posted On

2014-05-23