Mutagenetix > Incidental Mutations

Incidental Mutation 'R4180:Klf17'

319681

Institutional Source

Beutler Lab

Gene Symbol

Klf17

Ensembl Gene

ENSMUSG00000048626

Gene Name

Kruppel-like factor 17

Synonyms

D4Ertd561e, 7420700M05Rik, Zfp393

MMRRC Submission

041016-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117757836-117765648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117759186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 316 (H316L)

Ref Sequence

ENSEMBL: ENSMUSP00000052316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062747]

AlphaFold

Q8CFA7

Predicted Effect

probably benign
Transcript: ENSMUST00000062747
AA Change: H316L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052316
Gene: ENSMUSG00000048626
AA Change: H316L

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC
low complexity region	202	213	N/A	INTRINSIC
ZnF_C2H2	256	280	4.47e-3	SMART
ZnF_C2H2	286	310	1.92e-2	SMART
ZnF_C2H2	316	338	1.1e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,441,578	S1326P	possibly damaging	Het
Adam22	T	G	5: 8,149,218	D246A	probably damaging	Het
Bmf	T	C	2: 118,532,537		probably benign	Het
Cd300lf	T	C	11: 115,124,263	Y160C	possibly damaging	Het
Chuk	G	A	19: 44,101,840	A71V	probably benign	Het
Col19a1	C	T	1: 24,270,392	G1060E	probably damaging	Het
Dock7	A	G	4: 99,016,736	V634A	probably benign	Het
Dpm3	A	G	3: 89,266,732		probably benign	Het
Dqx1	A	G	6: 83,059,479	T155A	probably benign	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Fam184b	T	C	5: 45,539,764	E686G	probably benign	Het
Fhad1	T	A	4: 141,985,543	D195V	possibly damaging	Het
Glis2	T	C	16: 4,611,376	S148P	probably benign	Het
Gm8587	C	T	12: 88,089,746		noncoding transcript	Het
Gon7	A	G	12: 102,754,104	S90P	probably benign	Het
Haus6	A	T	4: 86,583,574	W687R	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Idh3g	A	T	X: 73,782,004		probably null	Het
Ints9	T	C	14: 64,992,981	L119P	probably damaging	Het
Itga9	T	C	9: 118,607,078	Y51H	probably damaging	Het
Klf4	C	T	4: 55,530,884	G26R	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lhcgr	A	G	17: 88,742,283	V605A	probably damaging	Het
Mafa	T	C	15: 75,747,564	Y120C	possibly damaging	Het
Map3k20	A	G	2: 72,441,571	Y681C	probably damaging	Het
Nub1	T	C	5: 24,692,877	I87T	probably damaging	Het
Olfr356	T	A	2: 36,937,230	V37D	probably damaging	Het
Pak2	C	G	16: 32,052,187	G59A	probably benign	Het
Pdzrn4	T	A	15: 92,402,017	V256D	possibly damaging	Het
Pkd2l1	T	C	19: 44,192,181	N32D	probably benign	Het
Plec	T	C	15: 76,180,215	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 105,381,398	V1029E	possibly damaging	Het
Prkcd	A	G	14: 30,610,304		probably benign	Het
Rgcc	T	C	14: 79,300,715	S79G	probably benign	Het
Sspo	T	C	6: 48,498,395		probably null	Het
Stxbp5l	A	T	16: 37,247,880	C315S	probably benign	Het
Tc2n	A	G	12: 101,665,695	L301P	probably damaging	Het
Tcerg1l	T	C	7: 138,276,676		probably null	Het
Tex12	T	C	9: 50,559,287		probably null	Het
Tgm5	T	C	2: 121,076,961	I94V	probably benign	Het
Tonsl	A	G	15: 76,624,475	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trbv4	A	C	6: 41,059,712	D57A	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tuba4a	T	C	1: 75,215,782	D396G	probably benign	Het
Txnrd2	C	G	16: 18,426,425		probably null	Het
Zfp445	T	C	9: 122,852,524	N784S	probably benign	Het
Zfp459	G	T	13: 67,408,443	L174I	probably benign	Het

Other mutations in Klf17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Klf17	APN	4	117761038	missense	probably benign	0.06
IGL01399:Klf17	APN	4	117759159	missense	probably damaging	1.00
R0047:Klf17	UTSW	4	117761032	missense	probably benign	0.00
R0051:Klf17	UTSW	4	117760392	missense	probably damaging	1.00
R0051:Klf17	UTSW	4	117760392	missense	probably damaging	1.00
R1513:Klf17	UTSW	4	117760935	missense	probably damaging	0.96
R3103:Klf17	UTSW	4	117760608	missense	possibly damaging	0.72
R4112:Klf17	UTSW	4	117760701	missense	possibly damaging	0.85
R4669:Klf17	UTSW	4	117760371	missense	probably damaging	1.00
R4715:Klf17	UTSW	4	117760536	missense	probably benign	0.44
R5063:Klf17	UTSW	4	117760659	missense	possibly damaging	0.85
R7578:Klf17	UTSW	4	117760719	missense	possibly damaging	0.85
R7765:Klf17	UTSW	4	117760615	missense	probably benign	0.08
R9041:Klf17	UTSW	4	117760359	missense	probably damaging	1.00
Z1176:Klf17	UTSW	4	117760351	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGATCTGGTCTTGAGCAACTG -3'
(R):5'- ATCTAGGGGCCTTTACCTCC -3'

Sequencing Primer
(F):5'- CTGAATCTTGGGTTAGAGACTACAG -3'
(R):5'- GGGGCCTTTACCTCCCACTG -3'

Posted On

2015-06-10