Mutagenetix > Incidental Mutation

Incidental Mutation 'R6788:Klhl29'

532512

Institutional Source

Beutler Lab

Gene Symbol

Klhl29

Ensembl Gene

ENSMUSG00000020627

Gene Name

kelch-like 29

Synonyms

Kbtbd9, A230106N14Rik

MMRRC Submission

044902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5127472-5425682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5134393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 673 (V673M)

Ref Sequence

ENSEMBL: ENSMUSP00000151284 (fasta)

Gene Model

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

AlphaFold

Q80T74

Predicted Effect

probably damaging
Transcript: ENSMUST00000020958
AA Change: V734M

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

SMART Domains

Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: V734M

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

probably damaging
Transcript: ENSMUST00000218384
AA Change: V673M

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.4%

Validation Efficiency

97% (68/70)

Allele List at MGI

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

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,580,199 (GRCm39)	V2001E	probably benign	Het
Ahsg	A	G	16: 22,713,585 (GRCm39)	D122G	probably benign	Het
Ank3	A	G	10: 69,840,553 (GRCm39)	Y1616C	probably damaging	Het
Arhgef1	A	G	7: 24,619,205 (GRCm39)		probably null	Het
Atp7b	T	C	8: 22,494,391 (GRCm39)	I1023V	probably benign	Het
Bod1l	A	T	5: 41,979,216 (GRCm39)	Y699*	probably null	Het
Car12	C	T	9: 66,659,244 (GRCm39)	S183L	probably damaging	Het
Cep290	T	C	10: 100,324,490 (GRCm39)	S57P	probably damaging	Het
Cep57l1	T	C	10: 41,619,145 (GRCm39)	D74G	probably damaging	Het
Cers6	T	C	2: 68,938,903 (GRCm39)	Y374H	possibly damaging	Het
Chmp4c	T	A	3: 10,432,195 (GRCm39)	M35K	possibly damaging	Het
Crkl	G	A	16: 17,301,645 (GRCm39)	D300N	probably damaging	Het
Cyp3a41a	A	G	5: 145,642,639 (GRCm39)	M240T	probably benign	Het
Dipk2a	C	T	9: 94,406,502 (GRCm39)	V302I	probably benign	Het
Dnah12	G	T	14: 26,523,470 (GRCm39)	L1986F	probably damaging	Het
Dnah8	T	C	17: 30,867,439 (GRCm39)	I297T	probably benign	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Dpys	T	A	15: 39,720,559 (GRCm39)	H67L	probably damaging	Het
Epc2	T	G	2: 49,422,099 (GRCm39)	V331G	probably benign	Het
Fnbp1l	G	A	3: 122,339,956 (GRCm39)	R344*	probably null	Het
Gmip	G	T	8: 70,263,824 (GRCm39)	L89F	possibly damaging	Het
Gmip	G	C	8: 70,263,826 (GRCm39)	R90P	probably damaging	Het
Gpi1	A	G	7: 33,928,415 (GRCm39)	S74P	probably damaging	Het
Gys1	G	A	7: 45,094,102 (GRCm39)	E406K	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Lnpk	T	C	2: 74,360,020 (GRCm39)	T332A	probably benign	Het
Loxl4	T	C	19: 42,596,792 (GRCm39)	D60G	probably damaging	Het
Lrr1	T	C	12: 69,221,449 (GRCm39)	I197T	probably damaging	Het
Map1lc3b	A	G	8: 122,320,316 (GRCm39)	N43S	probably benign	Het
Map3k21	A	T	8: 126,666,605 (GRCm39)	D599V	probably benign	Het
Mastl	T	C	2: 23,023,710 (GRCm39)	N338D	probably benign	Het
Mepe	A	T	5: 104,486,074 (GRCm39)	R405*	probably null	Het
Mrps30	T	C	13: 118,516,908 (GRCm39)	E437G	probably benign	Het
Mup15	A	G	4: 61,356,465 (GRCm39)	V100A	possibly damaging	Het
Olfml1	A	T	7: 107,167,075 (GRCm39)	I35F	probably damaging	Het
Olfml2a	T	A	2: 38,850,238 (GRCm39)	Y651*	probably null	Het
Or2h1b	T	A	17: 37,462,713 (GRCm39)	D50V	probably damaging	Het
Otog	T	C	7: 45,947,741 (GRCm39)	V113A	probably damaging	Het
Parvg	C	T	15: 84,210,464 (GRCm39)	L44F	possibly damaging	Het
Pcnx2	G	T	8: 126,498,839 (GRCm39)	D1553E	probably damaging	Het
Pcyt2	C	T	11: 120,505,200 (GRCm39)	G122S	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Polq	C	T	16: 36,897,510 (GRCm39)	T2134I	probably damaging	Het
Prkce	T	G	17: 86,937,489 (GRCm39)	F641V	probably damaging	Het
Prss1	T	C	6: 41,440,654 (GRCm39)	I243T	possibly damaging	Het
Pxmp2	A	G	5: 110,429,185 (GRCm39)	F91L	probably benign	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Rasgef1a	T	G	6: 118,064,174 (GRCm39)	M337R	possibly damaging	Het
Rassf2	A	G	2: 131,844,845 (GRCm39)	M199T	probably damaging	Het
Rtbdn	A	T	8: 85,679,303 (GRCm39)	Y67F	probably null	Het
Scamp3	T	C	3: 89,089,256 (GRCm39)	V271A	probably benign	Het
Sema3a	A	T	5: 13,647,584 (GRCm39)	R613W	possibly damaging	Het
Slc4a3	A	T	1: 75,527,959 (GRCm39)	I206F	probably damaging	Het
Slc9b1	A	G	3: 135,063,518 (GRCm39)		probably null	Het
Smchd1	C	A	17: 71,782,096 (GRCm39)	V22F	probably benign	Het
Smg1	A	G	7: 117,783,794 (GRCm39)		probably benign	Het
Spaca7b	T	C	8: 11,728,584 (GRCm39)	E29G	possibly damaging	Het
Spata31e4	A	C	13: 50,857,131 (GRCm39)	H923P	probably damaging	Het
Stab1	A	G	14: 30,861,117 (GRCm39)	L89P	probably damaging	Het
Stim1	A	G	7: 102,076,498 (GRCm39)	E152G	probably damaging	Het
Tenm3	A	G	8: 49,127,528 (GRCm39)	F50S	probably damaging	Het
Tpgs2	T	G	18: 25,262,927 (GRCm39)	N231H	probably benign	Het
Trank1	T	A	9: 111,219,747 (GRCm39)	N2161K	probably damaging	Het
Trim28	A	G	7: 12,759,273 (GRCm39)	D129G	probably benign	Het
Trim66	A	T	7: 109,076,961 (GRCm39)	I326N	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Uggt1	T	A	1: 36,269,769 (GRCm39)	T83S	probably benign	Het
Wdr91	A	G	6: 34,863,754 (GRCm39)	I587T	probably damaging	Het
Zpld1	A	T	16: 55,052,603 (GRCm39)	V337D	possibly damaging	Het

Other mutations in Klhl29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Klhl29	APN	12	5,190,705 (GRCm39)	missense	probably benign	0.01
IGL02639:Klhl29	APN	12	5,187,453 (GRCm39)	missense	probably damaging	0.96
IGL03142:Klhl29	APN	12	5,187,603 (GRCm39)	missense	probably damaging	1.00
bauxite	UTSW	12	5,141,347 (GRCm39)	missense	probably damaging	0.98
Kerosene	UTSW	12	5,141,030 (GRCm39)	missense	probably damaging	0.98
Mineral	UTSW	12	5,133,995 (GRCm39)	missense	probably damaging	0.99
tungsten	UTSW	12	5,140,995 (GRCm39)	nonsense	probably null
N/A - 535:Klhl29	UTSW	12	5,134,019 (GRCm39)	missense	probably damaging	1.00
R0347:Klhl29	UTSW	12	5,134,354 (GRCm39)	missense	probably damaging	0.97
R0622:Klhl29	UTSW	12	5,131,224 (GRCm39)	missense	probably damaging	1.00
R0631:Klhl29	UTSW	12	5,144,883 (GRCm39)	missense	probably benign	0.08
R0784:Klhl29	UTSW	12	5,131,251 (GRCm39)	missense	probably damaging	1.00
R1157:Klhl29	UTSW	12	5,140,650 (GRCm39)	missense	possibly damaging	0.89
R1521:Klhl29	UTSW	12	5,141,307 (GRCm39)	missense	probably damaging	1.00
R1535:Klhl29	UTSW	12	5,134,486 (GRCm39)	missense	probably damaging	1.00
R1599:Klhl29	UTSW	12	5,143,538 (GRCm39)	missense	probably damaging	1.00
R2049:Klhl29	UTSW	12	5,187,876 (GRCm39)	missense	probably damaging	0.96
R2568:Klhl29	UTSW	12	5,141,350 (GRCm39)	missense	probably damaging	0.96
R2883:Klhl29	UTSW	12	5,134,036 (GRCm39)	missense	probably damaging	1.00
R3724:Klhl29	UTSW	12	5,140,603 (GRCm39)	missense	probably damaging	0.99
R3951:Klhl29	UTSW	12	5,190,660 (GRCm39)	missense	probably damaging	1.00
R5031:Klhl29	UTSW	12	5,141,334 (GRCm39)	missense	probably benign	0.05
R5078:Klhl29	UTSW	12	5,143,530 (GRCm39)	missense	possibly damaging	0.82
R5410:Klhl29	UTSW	12	5,141,366 (GRCm39)	missense	probably benign	0.36
R5619:Klhl29	UTSW	12	5,190,587 (GRCm39)	missense	probably benign	0.23
R5681:Klhl29	UTSW	12	5,140,669 (GRCm39)	missense	possibly damaging	0.56
R6028:Klhl29	UTSW	12	5,140,995 (GRCm39)	nonsense	probably null
R6294:Klhl29	UTSW	12	5,133,995 (GRCm39)	missense	probably damaging	0.99
R6394:Klhl29	UTSW	12	5,187,720 (GRCm39)	missense	probably benign	0.00
R6394:Klhl29	UTSW	12	5,144,830 (GRCm39)	nonsense	probably null
R6475:Klhl29	UTSW	12	5,141,030 (GRCm39)	missense	probably damaging	0.98
R6737:Klhl29	UTSW	12	5,260,124 (GRCm39)	missense	possibly damaging	0.68
R6781:Klhl29	UTSW	12	5,141,347 (GRCm39)	missense	probably damaging	0.98
R7741:Klhl29	UTSW	12	5,187,500 (GRCm39)	missense	possibly damaging	0.49
R8709:Klhl29	UTSW	12	5,140,681 (GRCm39)	missense	probably damaging	1.00
R8886:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8888:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8954:Klhl29	UTSW	12	5,187,542 (GRCm39)	missense	possibly damaging	0.48
R8971:Klhl29	UTSW	12	5,190,710 (GRCm39)	critical splice acceptor site	probably null
R9031:Klhl29	UTSW	12	5,140,537 (GRCm39)	missense	probably damaging	1.00
R9066:Klhl29	UTSW	12	5,260,114 (GRCm39)	missense	probably benign	0.01
R9432:Klhl29	UTSW	12	5,260,056 (GRCm39)	missense	probably benign	0.00
R9509:Klhl29	UTSW	12	5,190,629 (GRCm39)	missense	probably damaging	0.98
R9733:Klhl29	UTSW	12	5,190,641 (GRCm39)	missense	probably damaging	1.00
Z1177:Klhl29	UTSW	12	5,131,152 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTTGGGGTTACCTACAGC -3'
(R):5'- CCCATGTCTCCATCTGAAGG -3'

Sequencing Primer
(F):5'- GTTACCTACAGCCCGATGG -3'
(R):5'- GTCTCCATCTGAAGGCTTAAGCTATG -3'

Posted On

2018-08-29