Mutagenetix > Incidental Mutation

Incidental Mutation 'R6529:Klf15'

522178

Institutional Source

Beutler Lab

Gene Symbol

Klf15

Ensembl Gene

ENSMUSG00000030087

Gene Name

Kruppel-like transcription factor 15

Synonyms

hlb444, CKLF, 1810013I09Rik, KKLF

MMRRC Submission

044655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R6529 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

90439558-90452220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90444394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 323 (T323I)

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: T323I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032174
Gene: ENSMUSG00000030087
AA Change: T323I

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: T323I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109158
Gene: ENSMUSG00000030087
AA Change: T323I

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: T323I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144962
Gene: ENSMUSG00000030087
AA Change: T323I

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: T323I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144808
Gene: ENSMUSG00000030087
AA Change: T323I

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

unknown
Transcript: ENSMUST00000205136
AA Change: T98I

Meta Mutation Damage Score

0.1984

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (41/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	T	7: 78,739,479 (GRCm39)	M296L	probably benign	Het
Atxn2	T	C	5: 121,949,677 (GRCm39)		probably null	Het
B3galnt2	G	T	13: 14,170,377 (GRCm39)	R242S	probably benign	Het
Bltp3a	A	G	17: 28,098,750 (GRCm39)	I218M	possibly damaging	Het
Casz1	G	A	4: 149,022,646 (GRCm39)	E571K	probably damaging	Het
Ccdc163	A	G	4: 116,566,121 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,619,907 (GRCm39)	D1383G	probably damaging	Het
Cd200r1	A	G	16: 44,610,065 (GRCm39)	T95A	possibly damaging	Het
Chd2	T	C	7: 73,153,191 (GRCm39)	E219G	possibly damaging	Het
Cibar1	A	G	4: 12,168,978 (GRCm39)	V175A	probably damaging	Het
Dnah14	T	A	1: 181,494,034 (GRCm39)	V1730D	probably damaging	Het
Eps8	G	A	6: 137,491,335 (GRCm39)	H348Y	possibly damaging	Het
Fbxo2	A	T	4: 148,249,511 (GRCm39)	D187V	probably damaging	Het
Fsip2	A	T	2: 82,812,657 (GRCm39)	Y2992F	probably benign	Het
Gle1	A	T	2: 29,825,539 (GRCm39)	T10S	possibly damaging	Het
Got2	T	C	8: 96,615,013 (GRCm39)		probably benign	Het
Gtf3c6	T	C	10: 40,127,251 (GRCm39)	T34A	probably benign	Het
H4c11	G	T	13: 21,919,476 (GRCm39)	V71F	possibly damaging	Het
Krtap5-3	C	A	7: 141,756,079 (GRCm39)	C305*	probably null	Het
Map2k6	A	T	11: 110,383,388 (GRCm39)	D99V	probably damaging	Het
Nckap5l	G	T	15: 99,324,475 (GRCm39)	P676Q	probably benign	Het
Nup188	A	T	2: 30,216,466 (GRCm39)	T757S	possibly damaging	Het
Or10ak13	C	T	4: 118,638,907 (GRCm39)	V292I	probably benign	Het
Or51q1c	T	C	7: 103,653,133 (GRCm39)	V217A	probably benign	Het
Peg3	C	A	7: 6,711,071 (GRCm39)	A1384S	probably damaging	Het
Plekho2	C	T	9: 65,480,383 (GRCm39)	R14H	probably benign	Het
Qsox2	A	T	2: 26,107,753 (GRCm39)	C247S	probably damaging	Het
Slc25a13	A	G	6: 6,073,451 (GRCm39)	V469A	probably benign	Het
Slitrk3	T	C	3: 72,958,551 (GRCm39)	T74A	probably benign	Het
Spmip7	T	C	11: 11,465,009 (GRCm39)	F120S	possibly damaging	Het
Sult1a1	T	C	7: 126,274,310 (GRCm39)	T91A	probably benign	Het
Sult3a2	T	C	10: 33,655,733 (GRCm39)	Y82C	probably damaging	Het
Taf1b	A	T	12: 24,606,650 (GRCm39)	H490L	possibly damaging	Het
Trrap	T	A	5: 144,771,014 (GRCm39)	H2804Q	probably benign	Het
Usp8	A	G	2: 126,567,298 (GRCm39)	I106V	probably benign	Het
Wdcp	T	A	12: 4,901,143 (GRCm39)	V333D	probably damaging	Het
Wdr46	T	A	17: 34,168,120 (GRCm39)	L564Q	possibly damaging	Het
Wrn	T	C	8: 33,826,004 (GRCm39)		probably null	Het
Zfp664	C	T	5: 124,963,352 (GRCm39)	H249Y	probably damaging	Het
Zfp975	A	C	7: 42,311,325 (GRCm39)	H429Q	possibly damaging	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
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
R8486:Klf15	UTSW	6	90,444,160 (GRCm39)	missense	probably damaging	1.00
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'- TTGCACTCCTGCCTCAAGTG -3'
(R):5'- CCACCTCATCTAATGGAGAAAGG -3'

Sequencing Primer
(F):5'- AAGTGGTACCATCCTCCAACTTG -3'
(R):5'- AAGGGACCTTGTCATACACTCGG -3'

Posted On

2018-06-06