Mutagenetix > Incidental Mutation

Incidental Mutation 'R3768:Klf3'

273107

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

040745-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R3768 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,204,217 (GRCm39)	R353G	probably benign	Het
Ank1	A	G	8: 23,606,202 (GRCm39)	D1153G	possibly damaging	Het
Ankrd12	T	C	17: 66,292,715 (GRCm39)	Y906C	probably benign	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Arid4a	A	G	12: 71,113,893 (GRCm39)	K160R	probably damaging	Het
Atp8a2	T	A	14: 60,281,785 (GRCm39)	H142L	probably benign	Het
B3gnt2	T	C	11: 22,786,765 (GRCm39)	K141R	probably damaging	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cmya5	A	T	13: 93,233,201 (GRCm39)	I629K	possibly damaging	Het
Cnga4	A	G	7: 105,056,887 (GRCm39)	N330S	probably damaging	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Cxcl15	A	C	5: 90,949,303 (GRCm39)	D156A	unknown	Het
D630045J12Rik	A	G	6: 38,119,844 (GRCm39)	S1633P	probably damaging	Het
Dock10	T	A	1: 80,510,085 (GRCm39)	N1581I	probably damaging	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Dscaml1	T	A	9: 45,643,435 (GRCm39)	F1285I	possibly damaging	Het
Fgf10	G	T	13: 118,918,083 (GRCm39)	V124F	probably damaging	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Kctd19	T	C	8: 106,123,112 (GRCm39)	T101A	probably benign	Het
Krtap12-1	G	T	10: 77,556,729 (GRCm39)	V91L	probably benign	Het
Lrp2	C	T	2: 69,335,449 (GRCm39)	D1425N	probably benign	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Ncor2	A	G	5: 125,105,751 (GRCm39)	V1613A	probably damaging	Het
Nlgn2	C	T	11: 69,719,230 (GRCm39)	V207I	possibly damaging	Het
Or10v1	G	A	19: 11,873,676 (GRCm39)	G97D	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Or4d10c	A	G	19: 12,065,304 (GRCm39)	I284T	probably damaging	Het
Osbpl3	G	A	6: 50,324,982 (GRCm39)	P172L	possibly damaging	Het
Pabpc4	T	A	4: 123,188,405 (GRCm39)	V338D	probably damaging	Het
Pdia6	T	C	12: 17,320,457 (GRCm39)	V32A	probably damaging	Het
Pik3c3	T	A	18: 30,466,326 (GRCm39)	S792R	probably damaging	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
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	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
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sap25	T	A	5: 137,640,632 (GRCm39)	F171I	probably damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Tarm1	A	T	7: 3,546,097 (GRCm39)	S69T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp36	T	C	11: 118,153,878 (GRCm39)	K846R	probably damaging	Het
Zfp229	A	T	17: 21,964,844 (GRCm39)	H358L	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
R3769: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