Mutagenetix > Incidental Mutation

Incidental Mutation 'R3425:Klf15'

271721

Institutional Source

Beutler Lab

Gene Symbol

Klf15

Ensembl Gene

ENSMUSG00000030087

Gene Name

Kruppel-like factor 15

Synonyms

KKLF, 1810013I09Rik, CKLF

MMRRC Submission

040643-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.756) question?

Stock #

R3425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90462576-90475238 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90466820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000144808 (fasta)

Gene Model

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

AlphaFold

Q9EPW2

Predicted Effect

probably benign
Transcript: ENSMUST00000032174
AA Change: S126P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032174
Gene: ENSMUSG00000030087
AA Change: S126P

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 benign
Transcript: ENSMUST00000113530
AA Change: S126P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109158
Gene: ENSMUSG00000030087
AA Change: S126P

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 benign
Transcript: ENSMUST00000203039
AA Change: S126P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144962
Gene: ENSMUSG00000030087
AA Change: S126P

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 benign
Transcript: ENSMUST00000203607
AA Change: S126P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144808
Gene: ENSMUSG00000030087
AA Change: S126P

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 benign
Transcript: ENSMUST00000205136

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

97% (30/31)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	A	G	14: 49,073,683	E70G	probably damaging	Het
Atp8b3	T	C	10: 80,536,347	E16G	probably benign	Het
Csmd3	A	T	15: 47,847,252	D1646E	probably damaging	Het
Cyp2c70	G	T	19: 40,184,024	A58E	probably damaging	Het
Ddx11	T	C	17: 66,139,439	I415T	possibly damaging	Het
Gm8674	T	A	13: 49,901,756		noncoding transcript	Het
H2-T22	A	C	17: 36,041,580	L151R	probably damaging	Het
Hmgcs1	C	A	13: 119,705,132	P420Q	probably damaging	Het
Il16	T	C	7: 83,644,040	E575G	probably damaging	Het
Ism2	T	C	12: 87,287,097	N58S	probably benign	Het
Kat7	T	C	11: 95,303,165	E103G	probably damaging	Het
Mapt	C	T	11: 104,298,722	R189*	probably null	Het
Meltf	C	T	16: 31,896,525	R679*	probably null	Het
Myo1d	T	C	11: 80,601,638	T764A	probably benign	Het
Mypn	T	C	10: 63,118,417		probably benign	Het
Olfr1098	C	T	2: 86,922,606	E309K	probably benign	Het
Olfr1453	G	C	19: 13,028,047	A94G	probably benign	Het
Ptpn4	T	C	1: 119,707,830	D381G	probably benign	Het
Ros1	C	A	10: 52,128,416		probably null	Het
Scel	T	G	14: 103,608,106	V559G	possibly damaging	Het
Sez6l	T	C	5: 112,426,749	D875G	probably damaging	Het
Slc18b1	T	G	10: 23,822,976	M348R	probably damaging	Het
Slc36a3	G	T	11: 55,142,781	T137K	probably benign	Het
Slco4c1	A	T	1: 96,841,251	S295R	probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmprss15	A	T	16: 79,003,433	N587K	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Zp1	G	A	19: 10,918,592	R227W	probably benign	Het

Other mutations in Klf15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5443:Klf15	UTSW	6	90467360	missense	possibly damaging	0.50
R5985:Klf15	UTSW	6	90466721	missense	possibly damaging	0.69
R6171:Klf15	UTSW	6	90466619	missense	possibly damaging	0.59
R6529:Klf15	UTSW	6	90467412	missense	probably damaging	1.00
R7861:Klf15	UTSW	6	90466838	missense	probably benign	0.00
R8082:Klf15	UTSW	6	90466484	missense	possibly damaging	0.95
R8124:Klf15	UTSW	6	90466881	missense	probably damaging	1.00
R8397:Klf15	UTSW	6	90466796	missense	probably damaging	0.99
R8486:Klf15	UTSW	6	90467178	missense	probably damaging	1.00
R9166:Klf15	UTSW	6	90466970	missense	probably benign
R9178:Klf15	UTSW	6	90467109	missense	probably damaging	0.99
R9342:Klf15	UTSW	6	90466869	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATGACAGCGATGTCTCCAG -3'
(R):5'- CAGACTCTGGATGAAGGTGG -3'

Sequencing Primer
(F):5'- CTGTTCCTGCTACAGTGCGG -3'
(R):5'- CTCTGGATGAAGGTGGCTCCG -3'

Posted On

2015-03-25