Mutagenetix > Incidental Mutation

Incidental Mutation 'R3769:Klf3'

273161

Institutional Source

Beutler Lab

Gene Symbol

Klf3

Ensembl Gene

ENSMUSG00000029178

Gene Name

Kruppel-like transcription factor 3 (basic)

Synonyms

Tef-2, BKLF, 9930027G08Rik, Bklf

MMRRC Submission

040746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R3769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64960864-64990246 bp(+) (GRCm39)

Type of Mutation

splice site (4974 bp from exon)

DNA Base Change (assembly)

A to G at 64984560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165536] [ENSMUST00000166409] [ENSMUST00000197879] [ENSMUST00000198946] [ENSMUST00000200384]

AlphaFold

Q60980

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165536
AA Change: N267S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129363
Gene: ENSMUSG00000029178
AA Change: N267S

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
low complexity region	91	111	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
ZnF_C2H2	259	283	6.32e-3	SMART
ZnF_C2H2	289	313	1.6e-4	SMART
ZnF_C2H2	319	341	8.47e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166409
AA Change: N267S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128429
Gene: ENSMUSG00000029178
AA Change: N267S

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
low complexity region	91	111	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
ZnF_C2H2	259	283	6.32e-3	SMART
ZnF_C2H2	289	313	1.6e-4	SMART
ZnF_C2H2	319	341	8.47e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196764

Predicted Effect

probably null
Transcript: ENSMUST00000197879

SMART Domains

Protein: ENSMUSP00000142369
Gene: ENSMUSG00000029178

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
low complexity region	91	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198946
AA Change: N61S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142651
Gene: ENSMUSG00000029178
AA Change: N61S

Domain	Start	End	E-Value	Type
ZnF_C2H2	53	77	2.7e-5	SMART
ZnF_C2H2	83	107	6.9e-7	SMART
ZnF_C2H2	113	135	3.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200587

Meta Mutation Damage Score

0.3169

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (47/48)

MGI Phenotype

PHENOTYPE: Homozygous null mice display reduced viability, body size and white adipose tissue. Mice homozygous for a gene trap allele exhibit cardiac defects, reduced body size and abnormal red blood cells. Mice heterozygous for an ENU-induced allele exhibit lethality with heart defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Ccer1	G	A	10: 97,530,414 (GRCm39)	G359E	probably damaging	Het
Cdkal1	T	C	13: 29,736,386 (GRCm39)		probably null	Het
Celf1	T	C	2: 90,828,993 (GRCm39)	V20A	probably damaging	Het
Cep350	G	A	1: 155,828,950 (GRCm39)	T318I	probably damaging	Het
Chn2	A	G	6: 54,267,396 (GRCm39)	D159G	probably damaging	Het
Chst5	T	A	8: 112,616,513 (GRCm39)	D369V	possibly damaging	Het
Cmya5	A	T	13: 93,233,201 (GRCm39)	I629K	possibly damaging	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Ddx3x	T	C	X: 13,156,808 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Dpy19l4	T	C	4: 11,276,868 (GRCm39)		probably null	Het
Fgf10	G	T	13: 118,918,083 (GRCm39)	V124F	probably damaging	Het
Gm6356	C	A	14: 6,971,774 (GRCm38)	M120I	probably benign	Het
Gm7964	T	A	7: 83,405,338 (GRCm39)	V76D	probably damaging	Het
Gm826	A	G	2: 160,169,165 (GRCm39)	V48A	unknown	Het
Hoxb5	A	G	11: 96,194,795 (GRCm39)	D119G	possibly damaging	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Itgb2	T	C	10: 77,385,802 (GRCm39)	V255A	possibly damaging	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Pdia6	T	C	12: 17,320,457 (GRCm39)	V32A	probably damaging	Het
Pex6	G	T	17: 47,035,311 (GRCm39)		probably null	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Pole4	G	A	6: 82,599,095 (GRCm39)	R119C	possibly damaging	Het
Polr2c	G	A	8: 95,586,928 (GRCm39)	A65T	probably damaging	Het
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Scn5a	G	A	9: 119,381,142 (GRCm39)		probably benign	Het
Sh3rf3	A	G	10: 58,820,013 (GRCm39)	T275A	probably benign	Het
Slc27a2	A	G	2: 126,409,718 (GRCm39)	D300G	possibly damaging	Het
Slc35e1	A	T	8: 73,245,714 (GRCm39)	I155N	possibly damaging	Het
Slco1a4	A	G	6: 141,785,357 (GRCm39)	Y78H	probably damaging	Het
Snx15	T	A	19: 6,173,984 (GRCm39)		probably benign	Het
Top1	A	T	2: 160,563,442 (GRCm39)	I758F	probably damaging	Het
U2surp	A	G	9: 95,375,750 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ulk4	A	G	9: 121,092,766 (GRCm39)	V157A	probably benign	Het
Urgcp	T	C	11: 5,667,000 (GRCm39)	Y446C	probably damaging	Het
Vps51	T	C	19: 6,126,378 (GRCm39)	T125A	possibly damaging	Het
Ypel1	T	C	16: 16,927,532 (GRCm39)	H20R	probably benign	Het
Zfp458	T	A	13: 67,405,546 (GRCm39)	I298F	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (GRCm39)		probably benign	Het

Other mutations in Klf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Klf3	APN	5	64,974,123 (GRCm39)	missense	possibly damaging	0.52
IGL01967:Klf3	APN	5	64,979,430 (GRCm39)	missense	probably damaging	0.99
IGL02331:Klf3	APN	5	64,986,415 (GRCm39)	missense	probably damaging	1.00
R0126:Klf3	UTSW	5	64,979,446 (GRCm39)	missense	probably benign	0.15
R1883:Klf3	UTSW	5	64,980,224 (GRCm39)	missense	probably damaging	1.00
R2095:Klf3	UTSW	5	64,979,245 (GRCm39)	missense	probably benign	0.15
R2102:Klf3	UTSW	5	64,979,266 (GRCm39)	missense	probably damaging	0.96
R3767:Klf3	UTSW	5	64,984,560 (GRCm39)	splice site	probably null
R3768:Klf3	UTSW	5	64,984,560 (GRCm39)	splice site	probably null
R3770:Klf3	UTSW	5	64,984,560 (GRCm39)	splice site	probably null
R4405:Klf3	UTSW	5	64,986,347 (GRCm39)	missense	possibly damaging	0.93
R5936:Klf3	UTSW	5	64,980,303 (GRCm39)	missense	probably damaging	1.00
R6484:Klf3	UTSW	5	64,980,372 (GRCm39)	missense	probably damaging	0.99
R9295:Klf3	UTSW	5	64,980,240 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTTTGCCCGATGTTGTAAATGC -3'
(R):5'- GGATCACCAACTACTGCTCTTC -3'

Sequencing Primer
(F):5'- GGAAGGGAAGCACCTTTT -3'
(R):5'- ACTGCTCTTCTGTACTAAATCCCAG -3'

Posted On

2015-03-25