Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Klhl29'

713042

Institutional Source

Beutler Lab

Gene Symbol

Klhl29

Ensembl Gene

ENSMUSG00000020627

Gene Name

kelch-like 29

Synonyms

Kbtbd9, A230106N14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R9432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5127472-5425682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5260056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 54 (L54P)

Ref Sequence

ENSEMBL: ENSMUSP00000020958 (fasta)

Gene Model

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

AlphaFold

Q80T74

Predicted Effect

probably benign
Transcript: ENSMUST00000020958
AA Change: L54P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: L54P

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: L54P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,917 (GRCm39)	R314G	unknown	Het
Abca13	G	A	11: 9,244,559 (GRCm39)	V2141M	probably benign	Het
Abcc10	G	A	17: 46,634,710 (GRCm39)	A431V	possibly damaging	Het
Acod1	A	G	14: 103,292,414 (GRCm39)	R313G	probably damaging	Het
Adam3	G	T	8: 25,193,928 (GRCm39)	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,874 (GRCm39)	T113M	possibly damaging	Het
Ano8	C	A	8: 71,933,561 (GRCm39)	R577L	unknown	Het
Arhgef7	T	A	8: 11,869,646 (GRCm39)	S653R	probably damaging	Het
Atp10a	G	A	7: 58,469,418 (GRCm39)	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
C3	G	A	17: 57,530,950 (GRCm39)	P384S	probably damaging	Het
Camkk1	A	T	11: 72,928,757 (GRCm39)	E432V	probably damaging	Het
Celsr3	T	A	9: 108,726,032 (GRCm39)	V3087D	probably benign	Het
Ckap4	A	G	10: 84,363,543 (GRCm39)	S507P	probably damaging	Het
Coq6	G	A	12: 84,420,464 (GRCm39)	M471I	probably benign	Het
Csmd2	C	A	4: 128,171,004 (GRCm39)	H332Q		Het
Cxcr1	T	A	1: 74,231,231 (GRCm39)	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,036,032 (GRCm39)	R260S	possibly damaging	Het
Elmod2	C	A	8: 84,057,761 (GRCm39)	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,581,781 (GRCm39)	T315I	probably benign	Het
Eml1	A	G	12: 108,482,842 (GRCm39)	N487S	probably benign	Het
Epn1	G	T	7: 5,096,369 (GRCm39)	R221L	probably benign	Het
Faah	A	G	4: 115,874,772 (GRCm39)	V28A	probably benign	Het
Fbl	G	A	7: 27,876,689 (GRCm39)	R230H	probably benign	Het
Fsip2	C	T	2: 82,805,907 (GRCm39)	S742F	probably damaging	Het
Gm5460	A	G	14: 33,767,769 (GRCm39)	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,307,408 (GRCm39)	V262A	probably damaging	Het
Grin2c	A	T	11: 115,142,052 (GRCm39)	L789*	probably null	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,460,864 (GRCm39)	T948A	probably benign	Het
Herc2	G	A	7: 55,780,932 (GRCm39)	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,177,617 (GRCm39)	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,439,618 (GRCm39)	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,498 (GRCm39)	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,774,261 (GRCm39)	T1320A	probably benign	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Kat6b	A	C	14: 21,672,077 (GRCm39)	H329P	probably damaging	Het
Kntc1	A	T	5: 123,925,112 (GRCm39)	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,533,864 (GRCm39)	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,441,994 (GRCm39)	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,633,888 (GRCm39)	S787P	probably benign	Het
Magi1	A	G	6: 93,660,058 (GRCm39)	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,028,631 (GRCm39)	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,354,868 (GRCm39)	I15R	probably benign	Het
Myo1h	G	A	5: 114,499,366 (GRCm39)	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,156,917 (GRCm39)	I187T	possibly damaging	Het
Nos1	G	A	5: 118,034,871 (GRCm39)	V416M	probably damaging	Het
Or14a256	G	A	7: 86,265,065 (GRCm39)	R263C	possibly damaging	Het
Or14j8	A	G	17: 38,263,559 (GRCm39)	S119P	probably damaging	Het
Or8k30	T	G	2: 86,338,914 (GRCm39)	I37S	probably benign	Het
Pcdh15	A	G	10: 74,460,170 (GRCm39)	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,699,667 (GRCm39)	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,608,683 (GRCm39)	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,630,628 (GRCm39)	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,693,256 (GRCm39)	L656R	probably damaging	Het
Plcl1	T	C	1: 55,445,587 (GRCm39)	L14P	probably benign	Het
Pzp	A	T	6: 128,499,128 (GRCm39)	I173N		Het
Rnf123	C	T	9: 107,937,008 (GRCm39)	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,188,225 (GRCm39)	D198G	probably damaging	Het
Sftpb	G	C	6: 72,283,843 (GRCm39)	A147P	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc30a6	A	G	17: 74,719,699 (GRCm39)	T220A	possibly damaging	Het
Slc5a3	T	A	16: 91,874,615 (GRCm39)	V224D	probably benign	Het
Smad5	T	A	13: 56,875,417 (GRCm39)	Y202N	probably benign	Het
Smok2b	A	G	17: 13,453,881 (GRCm39)	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,471,121 (GRCm39)	I199K	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tfg	G	A	16: 56,524,868 (GRCm39)	R113*	probably null	Het
Tubb4a	A	T	17: 57,388,034 (GRCm39)	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,402,046 (GRCm39)	V195A	probably damaging	Het
Umad1	A	G	6: 8,401,096 (GRCm39)	H55R	unknown	Het
Vmn1r176	A	T	7: 23,534,743 (GRCm39)	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,870,473 (GRCm39)	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,233 (GRCm39)	T69A		Het
Vmn2r59	A	T	7: 41,696,254 (GRCm39)	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,830,137 (GRCm39)	D1514E	probably benign	Het
Vsir	A	G	10: 60,193,732 (GRCm39)	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,379,262 (GRCm39)	M112L	probably benign	Het
Zfp26	T	A	9: 20,347,830 (GRCm39)	K911N	probably damaging	Het
Zfp362	C	T	4: 128,670,980 (GRCm39)	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,465,407 (GRCm39)	Y288*	probably null	Het
Zfyve28	G	T	5: 34,400,633 (GRCm39)	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,963,539 (GRCm39)	D32A	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
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
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'- GCACTTTATGGAGGTCATGGC -3'
(R):5'- TGGTTCCCTGTGAGAAGCTG -3'

Sequencing Primer
(F):5'- ATAAGGCCTCTGTGCTAGCCTG -3'
(R):5'- TGTGAGAAGCTGCCACG -3'

Posted On

2022-05-16