Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Klhl29'

254648

Institutional Source

Beutler Lab

Gene Symbol

Klhl29

Ensembl Gene

ENSMUSG00000020627

Gene Name

kelch-like 29

Synonyms

A230106N14Rik, Kbtbd9

MMRRC Submission

040427-MU

Accession Numbers

Genbank: NM_001164493; MGI: 2683857

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5077472-5375682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5091350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 545 (S545P)

Ref Sequence

ENSEMBL: ENSMUSP00000020958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020958] [ENSMUST00000218384]

AlphaFold

Q80T74

Predicted Effect

probably damaging
Transcript: ENSMUST00000020958
AA Change: S545P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: S545P

Domain	Start	End	E-Value	Type
low complexity region	30	49	N/A	INTRINSIC
low complexity region	50	75	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	205	219	N/A	INTRINSIC
low complexity region	260	280	N/A	INTRINSIC
BTB	329	431	2.07e-22	SMART
BACK	436	538	4.88e-32	SMART
Kelch	585	636	5.33e0	SMART
Kelch	637	683	5.42e-5	SMART
Kelch	684	730	5.42e-5	SMART
Kelch	731	778	5.44e-1	SMART
Kelch	779	821	2.54e-1	SMART
Kelch	822	870	4.01e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218384
AA Change: S545P

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161		probably benign	Het
Abca13	A	T	11: 9,333,310	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749	M234L	possibly damaging	Het
Cacna1d	A	G	14: 30,082,511	I1335T	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566	K444*	probably null	Het
Clasp2	A	G	9: 113,878,764	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
D130043K22Rik	C	T	13: 24,883,891	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848	N356I	probably benign	Het
Fam13a	T	G	6: 58,935,609	R686S	probably damaging	Het
Fmo1	T	A	1: 162,836,259	I234L	probably benign	Het
Foxj2	C	T	6: 122,828,372	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322	D129E	probably damaging	Het
Krt83	G	T	15: 101,487,827	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018	N394S	probably null	Het
Myo5a	A	G	9: 75,123,040	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,151,897	V469A	probably damaging	Het
Myot	A	G	18: 44,337,216	T87A	probably benign	Het
Nav2	A	G	7: 49,597,564	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Prdx1	T	G	4: 116,693,800	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370	K553*	probably null	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Thg1l	A	G	11: 45,951,565	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164		probably benign	Het
Trrap	G	A	5: 144,843,369		probably null	Het
Tulp3	C	T	6: 128,327,638	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238	S125T	probably benign	Het

Other mutations in Klhl29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Klhl29	APN	12	5140705	missense	probably benign	0.01
IGL02639:Klhl29	APN	12	5137453	missense	probably damaging	0.96
IGL03142:Klhl29	APN	12	5137603	missense	probably damaging	1.00
bauxite	UTSW	12	5091347	missense	probably damaging	0.98
Kerosene	UTSW	12	5091030	missense	probably damaging	0.98
Mineral	UTSW	12	5083995	missense	probably damaging	0.99
tungsten	UTSW	12	5090995	nonsense	probably null
N/A - 535:Klhl29	UTSW	12	5084019	missense	probably damaging	1.00
R0347:Klhl29	UTSW	12	5084354	missense	probably damaging	0.97
R0622:Klhl29	UTSW	12	5081224	missense	probably damaging	1.00
R0631:Klhl29	UTSW	12	5094883	missense	probably benign	0.08
R0784:Klhl29	UTSW	12	5081251	missense	probably damaging	1.00
R1157:Klhl29	UTSW	12	5090650	missense	possibly damaging	0.89
R1521:Klhl29	UTSW	12	5091307	missense	probably damaging	1.00
R1535:Klhl29	UTSW	12	5084486	missense	probably damaging	1.00
R1599:Klhl29	UTSW	12	5093538	missense	probably damaging	1.00
R2049:Klhl29	UTSW	12	5137876	missense	probably damaging	0.96
R2883:Klhl29	UTSW	12	5084036	missense	probably damaging	1.00
R3724:Klhl29	UTSW	12	5090603	missense	probably damaging	0.99
R3951:Klhl29	UTSW	12	5140660	missense	probably damaging	1.00
R5031:Klhl29	UTSW	12	5091334	missense	probably benign	0.05
R5078:Klhl29	UTSW	12	5093530	missense	possibly damaging	0.82
R5410:Klhl29	UTSW	12	5091366	missense	probably benign	0.36
R5619:Klhl29	UTSW	12	5140587	missense	probably benign	0.23
R5681:Klhl29	UTSW	12	5090669	missense	possibly damaging	0.56
R6028:Klhl29	UTSW	12	5090995	nonsense	probably null
R6294:Klhl29	UTSW	12	5083995	missense	probably damaging	0.99
R6394:Klhl29	UTSW	12	5094830	nonsense	probably null
R6394:Klhl29	UTSW	12	5137720	missense	probably benign	0.00
R6475:Klhl29	UTSW	12	5091030	missense	probably damaging	0.98
R6737:Klhl29	UTSW	12	5210124	missense	possibly damaging	0.68
R6781:Klhl29	UTSW	12	5091347	missense	probably damaging	0.98
R6788:Klhl29	UTSW	12	5084393	missense	probably damaging	1.00
R7741:Klhl29	UTSW	12	5137500	missense	possibly damaging	0.49
R8709:Klhl29	UTSW	12	5090681	missense	probably damaging	1.00
R8886:Klhl29	UTSW	12	5137542	missense	possibly damaging	0.48
R8888:Klhl29	UTSW	12	5137542	missense	possibly damaging	0.48
R8954:Klhl29	UTSW	12	5137542	missense	possibly damaging	0.48
R8971:Klhl29	UTSW	12	5140710	critical splice acceptor site	probably null
R9031:Klhl29	UTSW	12	5090537	missense	probably damaging	1.00
R9066:Klhl29	UTSW	12	5210114	missense	probably benign	0.01
R9432:Klhl29	UTSW	12	5210056	missense	probably benign	0.00
R9509:Klhl29	UTSW	12	5140629	missense	probably damaging	0.98
R9733:Klhl29	UTSW	12	5140641	missense	probably damaging	1.00
Z1177:Klhl29	UTSW	12	5081152	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCATCTGTGTCTGGATCCTC -3'
(R):5'- TGTCTAGTATGCCAGGCTGG -3'

Sequencing Primer
(F):5'- TCTGGATCCTCTCTGGGGAGAC -3'
(R):5'- GGGCAATGTGCACTCCCAAG -3'

Posted On

2014-12-04