Mutagenetix > Incidental Mutation

Incidental Mutation 'R8886:Klhl29'

677347

Institutional Source

Beutler Lab

Gene Symbol

Klhl29

Ensembl Gene

ENSMUSG00000020627

Gene Name

kelch-like 29

Synonyms

Kbtbd9, A230106N14Rik

MMRRC Submission

068691-MU

Accession Numbers

Essential gene?

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

Stock #

R8886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5127472-5425682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5187542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 274 (L274H)

Ref Sequence

ENSEMBL: ENSMUSP00000020958 (fasta)

Gene Model

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

AlphaFold

Q80T74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020958
AA Change: L274H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: L274H

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: L274H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,882,349 (GRCm39)	N14I	possibly damaging	Het
1700066M21Rik	T	A	1: 57,422,008 (GRCm39)	I128N	probably damaging	Het
4930407I10Rik	G	T	15: 81,950,051 (GRCm39)	S1316I	probably damaging	Het
Abcc9	T	C	6: 142,546,420 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,150,928 (GRCm39)	S1102P	probably damaging	Het
BC061237	A	C	14: 44,741,691 (GRCm39)	I145L	probably benign	Het
Birc7	A	T	2: 180,574,786 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,319,806 (GRCm39)	G393S		Het
Ccdc112	C	T	18: 46,444,826 (GRCm39)	G18R	unknown	Het
Cryzl1	T	A	16: 91,492,188 (GRCm39)	T213S	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Cyp4v3	A	T	8: 45,774,785 (GRCm39)	L123*	probably null	Het
Dmpk	C	A	7: 18,825,886 (GRCm39)		probably benign	Het
Dnah9	A	T	11: 65,943,840 (GRCm39)	V1932E	probably damaging	Het
Ect2	T	C	3: 27,200,126 (GRCm39)		probably benign	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fkbp10	A	G	11: 100,312,862 (GRCm39)	E336G	probably damaging	Het
Gnptg	T	C	17: 25,453,628 (GRCm39)	S305G	probably benign	Het
Greb1l	A	T	18: 10,553,843 (GRCm39)	I1615F	probably benign	Het
Gse1	G	A	8: 121,297,470 (GRCm39)	R561Q	unknown	Het
Igkv9-129	T	A	6: 67,817,221 (GRCm39)	Y108*	probably null	Het
Igsf10	T	A	3: 59,237,410 (GRCm39)	T924S	probably benign	Het
Itgb6	A	T	2: 60,458,324 (GRCm39)	C476*	probably null	Het
Itih4	C	T	14: 30,617,482 (GRCm39)	Q601*	probably null	Het
Itpk1	G	A	12: 102,550,604 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jakmip3	G	A	7: 138,609,171 (GRCm39)	E92K	probably benign	Het
Klk1b5	T	A	7: 43,869,192 (GRCm39)	M122K	probably damaging	Het
Krt84	A	G	15: 101,437,221 (GRCm39)	I314T	possibly damaging	Het
Lama2	A	T	10: 27,245,157 (GRCm39)		probably benign	Het
Lmntd1	T	C	6: 145,363,152 (GRCm39)	T270A	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh11	A	G	16: 14,052,278 (GRCm39)	I396T		Het
Naprt	T	C	15: 75,765,433 (GRCm39)	T136A	probably damaging	Het
Nbea	T	C	3: 55,966,148 (GRCm39)	N438S	probably damaging	Het
Nckap1	C	A	2: 80,339,055 (GRCm39)		probably null	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nts	C	T	10: 102,320,868 (GRCm39)	A74T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or8b49	T	G	9: 38,506,446 (GRCm39)	F310V	possibly damaging	Het
Pcp2	A	G	8: 3,675,208 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,343,734 (GRCm39)	S752P	probably benign	Het
Pign	C	T	1: 105,512,779 (GRCm39)	V635I	probably benign	Het
Plekhg3	C	A	12: 76,611,748 (GRCm39)	H342Q	possibly damaging	Het
Ppp4c	A	T	7: 126,386,466 (GRCm39)	I177N	probably damaging	Het
Psmd5	A	G	2: 34,747,755 (GRCm39)	F301L	possibly damaging	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rbm20	A	T	19: 53,801,767 (GRCm39)	I92L	probably benign	Het
Rnf213	A	G	11: 119,364,264 (GRCm39)	D4522G		Het
Robo3	T	C	9: 37,328,768 (GRCm39)	E1276G	probably damaging	Het
Rxrb	T	C	17: 34,256,428 (GRCm39)	F500L	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Scd3	A	G	19: 44,230,276 (GRCm39)	D353G	probably damaging	Het
Sh2d4b	T	C	14: 40,595,946 (GRCm39)		probably benign	Het
Ski	A	T	4: 155,244,016 (GRCm39)	L498Q	probably null	Het
Spocd1	T	A	4: 129,845,631 (GRCm39)	M497K		Het
Sspo	A	G	6: 48,458,201 (GRCm39)	E3299G	possibly damaging	Het
St14	C	A	9: 31,008,420 (GRCm39)	V507F	possibly damaging	Het
Tcf24	G	A	1: 10,037,388 (GRCm39)	T108I	probably benign	Het
Tecta	T	C	9: 42,278,359 (GRCm39)	T1050A	probably benign	Het
Ttc17	T	C	2: 94,205,473 (GRCm39)	D291G	probably benign	Het
Tubgcp2	G	T	7: 139,584,882 (GRCm39)	R518S	probably benign	Het
Ugt2a3	T	C	5: 87,484,358 (GRCm39)	Y222C	probably damaging	Het
Unc5c	C	G	3: 141,509,581 (GRCm39)	A687G	probably benign	Het
Usp42	T	C	5: 143,700,714 (GRCm39)	D1103G	probably damaging	Het
Vmn1r83	A	C	7: 12,055,843 (GRCm39)	D71E	probably benign	Het
Vmn2r3	T	A	3: 64,194,892 (GRCm39)	I9F	possibly damaging	Het
Zfand1	T	C	3: 10,409,862 (GRCm39)	Q160R	probably null	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably 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
R6788:Klhl29	UTSW	12	5,134,393 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGTTAGATGAGGCCAACGG -3'
(R):5'- CAGTGTGGTGGTGAACATGC -3'

Sequencing Primer
(F):5'- ATACTCCTGACATCACTGTGTTGGAG -3'
(R):5'- TGGTGAACATGCCTGCTCAG -3'

Posted On

2021-08-02