Mutagenetix > Incidental Mutation

Incidental Mutation 'R8486:Klf15'

657735

Institutional Source

Beutler Lab

Gene Symbol

Klf15

Ensembl Gene

ENSMUSG00000030087

Gene Name

Kruppel-like transcription factor 15

Synonyms

hlb444, CKLF, 1810013I09Rik, KKLF

MMRRC Submission

067929-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R8486 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90439558-90452220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90444160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 245 (V245D)

Ref Sequence

ENSEMBL: ENSMUSP00000144808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032174] [ENSMUST00000113530] [ENSMUST00000203039] [ENSMUST00000203607]

AlphaFold

Q9EPW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032174
AA Change: V245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032174
Gene: ENSMUSG00000030087
AA Change: V245D

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
ZnF_C2H2	320	344	1.26e-2	SMART
ZnF_C2H2	350	374	1.98e-4	SMART
ZnF_C2H2	380	402	1.13e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113530
AA Change: V245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109158
Gene: ENSMUSG00000030087
AA Change: V245D

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
ZnF_C2H2	320	344	1.26e-2	SMART
ZnF_C2H2	350	374	1.98e-4	SMART
ZnF_C2H2	380	402	1.13e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203039
AA Change: V245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144962
Gene: ENSMUSG00000030087
AA Change: V245D

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
ZnF_C2H2	320	344	1.26e-2	SMART
ZnF_C2H2	350	374	1.98e-4	SMART
ZnF_C2H2	380	402	1.13e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203607
AA Change: V245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144808
Gene: ENSMUSG00000030087
AA Change: V245D

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	192	211	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
ZnF_C2H2	320	344	1.26e-2	SMART
ZnF_C2H2	350	374	1.98e-4	SMART
ZnF_C2H2	380	402	1.13e-4	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display impaired gluconeogenesis with severe fasting induce hypoglycemia. Homozygotes are also more sensitive to induced cardiac stress and display mild cardiac and aortic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,225,092 (GRCm39)	S524G	probably benign	Het
Abca8b	A	T	11: 109,857,937 (GRCm39)	I546N	possibly damaging	Het
Abcd4	C	T	12: 84,650,752 (GRCm39)	R532H	probably damaging	Het
Acsf2	A	T	11: 94,460,786 (GRCm39)	D373E	probably damaging	Het
Acsm1	A	G	7: 119,259,880 (GRCm39)	T510A	probably damaging	Het
Adam21	C	T	12: 81,607,550 (GRCm39)	V71I	probably benign	Het
Adgra3	T	C	5: 50,147,621 (GRCm39)	D473G	probably damaging	Het
Agbl2	G	A	2: 90,631,499 (GRCm39)	V286I	possibly damaging	Het
Alkbh8	A	G	9: 3,344,642 (GRCm39)	E141G	probably null	Het
Arhgap21	T	C	2: 20,865,236 (GRCm39)	D952G	probably damaging	Het
Asb4	A	T	6: 5,390,653 (GRCm39)	K15N	possibly damaging	Het
Cert1	T	C	13: 96,770,690 (GRCm39)	V533A	probably damaging	Het
Clip1	G	T	5: 123,752,770 (GRCm39)		probably benign	Het
Clip4	T	C	17: 72,170,839 (GRCm39)		probably benign	Het
Cyp2b10	T	C	7: 25,614,306 (GRCm39)	V260A	probably benign	Het
Dnm1	C	T	2: 32,224,739 (GRCm39)	M430I	probably benign	Het
Dpp7	T	C	2: 25,242,561 (GRCm39)	D464G	probably damaging	Het
Dspp	A	G	5: 104,321,883 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,841,164 (GRCm39)	D730E	probably benign	Het
Fancf	A	G	7: 51,511,632 (GRCm39)	V124A	probably benign	Het
Fgfr2	G	A	7: 129,765,745 (GRCm39)	P692S	possibly damaging	Het
Fkbp15	G	A	4: 62,230,521 (GRCm39)	R731*	probably null	Het
Fos	T	C	12: 85,522,805 (GRCm39)	F239S	probably benign	Het
Fuz	T	C	7: 44,548,092 (GRCm39)	Y107H	probably damaging	Het
Gm3159	A	C	14: 4,400,520 (GRCm38)	N193T	probably damaging	Het
Helz2	T	A	2: 180,871,124 (GRCm39)	D2771V	probably damaging	Het
Ighv1-18	T	A	12: 114,646,325 (GRCm39)	K92M	probably damaging	Het
Kcnh3	A	G	15: 99,136,091 (GRCm39)	Y696C	probably damaging	Het
L1td1	C	T	4: 98,625,911 (GRCm39)	A702V	probably damaging	Het
Lamc2	A	G	1: 153,034,637 (GRCm39)	M122T	probably benign	Het
Lrp1b	A	G	2: 41,618,702 (GRCm39)	L124P	probably damaging	Het
Mcrs1	G	T	15: 99,146,349 (GRCm39)	Y85*	probably null	Het
Mgst1	A	T	6: 138,120,026 (GRCm39)	I29L	probably benign	Het
Miga1	C	T	3: 151,982,390 (GRCm39)	R562H	probably damaging	Het
Mybpc3	T	C	2: 90,959,117 (GRCm39)	W687R	probably damaging	Het
Myh11	G	T	16: 14,022,532 (GRCm39)	A1682D	possibly damaging	Het
Nes	T	C	3: 87,887,320 (GRCm39)	S1816P	probably damaging	Het
Or52p1	T	C	7: 104,267,069 (GRCm39)	V69A	possibly damaging	Het
Or5c1	T	G	2: 37,222,662 (GRCm39)	V301G	probably damaging	Het
Pkhd1l1	T	G	15: 44,410,812 (GRCm39)	F2773C	probably damaging	Het
Pkp1	C	G	1: 135,846,714 (GRCm39)	E13Q	probably damaging	Het
Ppp2r2b	T	C	18: 43,031,869 (GRCm39)	D4G	probably benign	Het
Ppp6r3	G	A	19: 3,537,072 (GRCm39)	H455Y	probably benign	Het
R3hdm1	A	G	1: 128,106,657 (GRCm39)	R202G	probably benign	Het
Sgcz	T	G	8: 38,190,207 (GRCm39)	K106N	probably benign	Het
Slc13a4	T	C	6: 35,247,304 (GRCm39)	Y572C	probably damaging	Het
Syne2	C	T	12: 76,088,881 (GRCm39)	Q5080*	probably null	Het
Tpst2	C	T	5: 112,456,171 (GRCm39)	Q5*	probably null	Het
Ttn	T	A	2: 76,561,877 (GRCm39)	T28908S	possibly damaging	Het
Vmn1r120	C	T	7: 20,787,027 (GRCm39)	R228H	probably benign	Het
Vmn2r3	T	C	3: 64,186,370 (GRCm39)	N105S	probably damaging	Het
Zfp521	T	C	18: 13,979,829 (GRCm39)	T195A	probably damaging	Het
Zfp616	T	A	11: 73,974,909 (GRCm39)	S484T	probably benign	Het

Other mutations in Klf15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3425:Klf15	UTSW	6	90,443,802 (GRCm39)	missense	probably benign	0.01
R5443:Klf15	UTSW	6	90,444,342 (GRCm39)	missense	possibly damaging	0.50
R5985:Klf15	UTSW	6	90,443,703 (GRCm39)	missense	possibly damaging	0.69
R6171:Klf15	UTSW	6	90,443,601 (GRCm39)	missense	possibly damaging	0.59
R6529:Klf15	UTSW	6	90,444,394 (GRCm39)	missense	probably damaging	1.00
R7861:Klf15	UTSW	6	90,443,820 (GRCm39)	missense	probably benign	0.00
R8082:Klf15	UTSW	6	90,443,466 (GRCm39)	missense	possibly damaging	0.95
R8124:Klf15	UTSW	6	90,443,863 (GRCm39)	missense	probably damaging	1.00
R8397:Klf15	UTSW	6	90,443,778 (GRCm39)	missense	probably damaging	0.99
R9166:Klf15	UTSW	6	90,443,952 (GRCm39)	missense	probably benign
R9178:Klf15	UTSW	6	90,444,091 (GRCm39)	missense	probably damaging	0.99
R9342:Klf15	UTSW	6	90,443,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTTCATCCAGAGTCTGC -3'
(R):5'- CTGCTGGGTTCTTGGGAAAC -3'

Sequencing Primer
(F):5'- CTGGGAGAGAGCGCTGTAC -3'
(R):5'- TGGGAAACTTCTGGCCCACAAG -3'

Posted On

2021-01-18