Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Klhl33'

646407

Institutional Source

Beutler Lab

Gene Symbol

Klhl33

Ensembl Gene

ENSMUSG00000090799

Gene Name

kelch-like 33

Synonyms

EG546611

MMRRC Submission

067740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51126038-51134940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51129689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 312 (R312Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164415] [ENSMUST00000170855] [ENSMUST00000227271]

AlphaFold

A0A2I3BRZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000164415
AA Change: R312Q

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

SMART Domains

Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: R312Q

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	5.7e-6	PFAM
BACK	75	176	3.59e-21	SMART
Kelch	273	322	5.26e-3	SMART
Kelch	323	369	7.83e-11	SMART
Kelch	370	418	1.46e-1	SMART
Kelch	419	465	2.84e-8	SMART
Kelch	466	514	6.08e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170855

SMART Domains

Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799

Domain	Start	End	E-Value	Type
SCOP:d1buoa_	83	129	2e-3	SMART
Blast:BTB	109	170	2e-18	BLAST
SCOP:d1jkjb2	142	198	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227271
AA Change: R572Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Chd8	T	C	14: 52,470,275 (GRCm39)	K445R	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
CN725425	T	C	15: 91,124,973 (GRCm39)	I171T	probably benign	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,561,384 (GRCm39)	I164F	possibly damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or2n1c	G	A	17: 38,519,189 (GRCm39)	A18T	probably benign	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rhot1	T	C	11: 80,134,292 (GRCm39)	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	probably benign	Het

Other mutations in Klhl33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Klhl33	APN	14	51,128,888 (GRCm39)	missense	probably benign	0.03
IGL01965:Klhl33	APN	14	51,129,187 (GRCm39)	missense	probably damaging	1.00
IGL02804:Klhl33	APN	14	51,130,411 (GRCm39)	missense	probably damaging	1.00
IGL02830:Klhl33	APN	14	51,129,214 (GRCm39)	missense	probably damaging	1.00
R0309:Klhl33	UTSW	14	51,128,868 (GRCm39)	missense	probably damaging	0.97
R0520:Klhl33	UTSW	14	51,129,140 (GRCm39)	missense	probably damaging	1.00
R0671:Klhl33	UTSW	14	51,129,851 (GRCm39)	missense	probably damaging	0.99
R0894:Klhl33	UTSW	14	51,129,583 (GRCm39)	missense	probably damaging	0.99
R0989:Klhl33	UTSW	14	51,129,279 (GRCm39)	missense	probably damaging	1.00
R1681:Klhl33	UTSW	14	51,130,534 (GRCm39)	missense	probably benign	0.28
R1795:Klhl33	UTSW	14	51,129,583 (GRCm39)	missense	probably damaging	0.99
R2088:Klhl33	UTSW	14	51,130,230 (GRCm39)	nonsense	probably null
R3114:Klhl33	UTSW	14	51,128,972 (GRCm39)	missense	possibly damaging	0.61
R5650:Klhl33	UTSW	14	51,129,285 (GRCm39)	missense	probably benign	0.08
R5851:Klhl33	UTSW	14	51,130,335 (GRCm39)	missense	probably damaging	1.00
R5995:Klhl33	UTSW	14	51,130,108 (GRCm39)	missense	possibly damaging	0.83
R6365:Klhl33	UTSW	14	51,129,294 (GRCm39)	missense	probably benign
R6434:Klhl33	UTSW	14	51,130,564 (GRCm39)	missense	probably damaging	1.00
R6803:Klhl33	UTSW	14	51,134,192 (GRCm39)	missense	probably damaging	0.99
R6881:Klhl33	UTSW	14	51,128,929 (GRCm39)	missense	probably benign	0.12
R6932:Klhl33	UTSW	14	51,129,373 (GRCm39)	missense	probably benign	0.03
R6953:Klhl33	UTSW	14	51,128,973 (GRCm39)	missense	possibly damaging	0.79
R6998:Klhl33	UTSW	14	51,130,478 (GRCm39)	missense	probably benign	0.00
R7545:Klhl33	UTSW	14	51,130,631 (GRCm39)	missense	probably damaging	1.00
R7985:Klhl33	UTSW	14	51,128,962 (GRCm39)	missense	probably benign	0.03
R8370:Klhl33	UTSW	14	51,129,689 (GRCm39)	missense	probably damaging	1.00
R8372:Klhl33	UTSW	14	51,129,689 (GRCm39)	missense	probably damaging	1.00
R8798:Klhl33	UTSW	14	51,130,565 (GRCm39)	missense	possibly damaging	0.95
R8923:Klhl33	UTSW	14	51,129,882 (GRCm39)	nonsense	probably null
R9027:Klhl33	UTSW	14	51,130,322 (GRCm39)	nonsense	probably null
R9326:Klhl33	UTSW	14	51,134,615 (GRCm39)	missense	possibly damaging	0.82
R9341:Klhl33	UTSW	14	51,133,903 (GRCm39)	critical splice donor site	probably null
R9343:Klhl33	UTSW	14	51,133,903 (GRCm39)	critical splice donor site	probably null
R9354:Klhl33	UTSW	14	51,130,385 (GRCm39)	missense	probably benign
R9416:Klhl33	UTSW	14	51,130,225 (GRCm39)	missense	probably damaging	0.97
R9525:Klhl33	UTSW	14	51,128,929 (GRCm39)	missense	probably null	0.05
R9590:Klhl33	UTSW	14	51,130,042 (GRCm39)	missense	probably benign
R9657:Klhl33	UTSW	14	51,134,117 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTTGAGCCAGATAGCCTAGG -3'
(R):5'- CCACAATAGCACTCTGGCTTC -3'

Sequencing Primer
(F):5'- CTAAGATTACAGGTGTGTGCAACC -3'
(R):5'- CAACTCTCAGGTATCTGTGGCCG -3'

Posted On

2020-09-02