Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Klf11'

514466

Institutional Source

Beutler Lab

Gene Symbol

Klf11

Ensembl Gene

ENSMUSG00000020653

Gene Name

Kruppel-like transcription factor 11

Synonyms

D12Ertd427e, Tieg3, Tieg2, Tieg2b

MMRRC Submission

044295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6148 (G1)

Quality Score

78.0506

Status

Validated

Chromosome

Chromosomal Location

24701370-24712781 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24701567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020982] [ENSMUST00000139940] [ENSMUST00000144046] [ENSMUST00000146894]

AlphaFold

Q8K1S5

Predicted Effect

probably null
Transcript: ENSMUST00000020982

SMART Domains

Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653

Domain	Start	End	E-Value	Type
low complexity region	267	275	N/A	INTRINSIC
low complexity region	356	367	N/A	INTRINSIC
ZnF_C2H2	384	408	5.9e-3	SMART
ZnF_C2H2	414	438	9.22e-5	SMART
ZnF_C2H2	444	466	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139940

Predicted Effect

probably benign
Transcript: ENSMUST00000144046

Predicted Effect

probably benign
Transcript: ENSMUST00000146894

Meta Mutation Damage Score

0.9355

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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 zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, show normal hematopoiesis, growth and development, and display no evidence of increased tumor formation following gamma-irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	Het

Other mutations in Klf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Klf11	APN	12	24,710,368 (GRCm39)	missense	probably benign	0.01
IGL02202:Klf11	APN	12	24,703,631 (GRCm39)	missense	probably benign	0.37
IGL02527:Klf11	APN	12	24,705,322 (GRCm39)	missense	probably benign	0.31
IGL02964:Klf11	APN	12	24,705,626 (GRCm39)	missense	probably damaging	1.00
R0254:Klf11	UTSW	12	24,703,582 (GRCm39)	missense	probably damaging	1.00
R0553:Klf11	UTSW	12	24,705,089 (GRCm39)	missense	probably benign	0.12
R0739:Klf11	UTSW	12	24,710,247 (GRCm39)	missense	probably damaging	1.00
R1584:Klf11	UTSW	12	24,705,304 (GRCm39)	missense	probably damaging	1.00
R1592:Klf11	UTSW	12	24,703,737 (GRCm39)	missense	probably damaging	1.00
R2356:Klf11	UTSW	12	24,703,582 (GRCm39)	missense	probably damaging	1.00
R3085:Klf11	UTSW	12	24,705,490 (GRCm39)	missense	probably benign
R4690:Klf11	UTSW	12	24,705,071 (GRCm39)	missense	probably damaging	0.97
R5023:Klf11	UTSW	12	24,705,358 (GRCm39)	missense	probably benign	0.00
R5483:Klf11	UTSW	12	24,705,410 (GRCm39)	nonsense	probably null
R5528:Klf11	UTSW	12	24,704,929 (GRCm39)	missense	probably benign	0.00
R6698:Klf11	UTSW	12	24,703,618 (GRCm39)	missense	probably damaging	1.00
R6799:Klf11	UTSW	12	24,705,638 (GRCm39)	missense	possibly damaging	0.59
R7317:Klf11	UTSW	12	24,705,518 (GRCm39)	missense	possibly damaging	0.59
R7384:Klf11	UTSW	12	24,703,742 (GRCm39)	missense	probably damaging	0.97
R7440:Klf11	UTSW	12	24,705,490 (GRCm39)	missense	probably benign
R7473:Klf11	UTSW	12	24,705,141 (GRCm39)	splice site	probably null
R7477:Klf11	UTSW	12	24,703,562 (GRCm39)	missense	probably benign	0.01
R7658:Klf11	UTSW	12	24,703,670 (GRCm39)	missense	probably damaging	1.00
R9378:Klf11	UTSW	12	24,705,043 (GRCm39)	missense	probably benign	0.01
R9479:Klf11	UTSW	12	24,705,029 (GRCm39)	missense	probably benign	0.10
R9663:Klf11	UTSW	12	24,705,731 (GRCm39)	missense	probably damaging	1.00
R9721:Klf11	UTSW	12	24,710,240 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGAGGACCTTACTGCGG -3'
(R):5'- ACGTCATGGCTGGAAATAGC -3'

Sequencing Primer
(F):5'- AGCCAGGCTCCGATCAC -3'
(R):5'- TGGAAATAGCCGCGCCG -3'

Posted On

2018-05-02