Mutagenetix > Incidental Mutation

Incidental Mutation 'R8963:Klhdc2'

682513

Institutional Source

Beutler Lab

Gene Symbol

Klhdc2

Ensembl Gene

ENSMUSG00000020978

Gene Name

kelch domain containing 2

Synonyms

D12Ertd522e, HCLP-1, 2310022K15Rik

MMRRC Submission

068797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69343455-69357461 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69347065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 77 (R77*)

Ref Sequence

ENSEMBL: ENSMUSP00000021362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021362]

AlphaFold

Q4G5Y1

Predicted Effect

probably null
Transcript: ENSMUST00000021362
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978
AA Change: R77*

Domain	Start	End	E-Value	Type
internal_repeat_1	7	117	3.66e-6	PROSPERO
internal_repeat_2	66	163	6.25e-5	PROSPERO
Pfam:Kelch_1	217	258	1.4e-6	PFAM
Pfam:Kelch_2	217	262	1.2e-7	PFAM
Pfam:Kelch_4	217	266	8.4e-8	PFAM
Pfam:Kelch_3	227	276	5.1e-9	PFAM
Pfam:Kelch_5	265	305	1.4e-6	PFAM
Pfam:Kelch_4	267	310	2e-9	PFAM
Pfam:Kelch_3	278	326	1.4e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,902,963 (GRCm39)	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,443 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,567,588 (GRCm39)	V5195E	probably benign	Het
Adora2b	C	T	11: 62,139,983 (GRCm39)	A19V	possibly damaging	Het
Ankrd28	A	G	14: 31,477,698 (GRCm39)	C115R	probably benign	Het
Ankrd35	T	A	3: 96,587,003 (GRCm39)	L106*	probably null	Het
Ankrd44	G	A	1: 54,801,538 (GRCm39)	A263V	probably damaging	Het
Apol7b	T	C	15: 77,308,120 (GRCm39)	K125R	possibly damaging	Het
Cacna1c	A	T	6: 118,719,232 (GRCm39)	L245*	probably null	Het
Cbll1	A	T	12: 31,538,199 (GRCm39)	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,311,641 (GRCm39)	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Cfap54	C	A	10: 92,864,562 (GRCm39)	G124*	probably null	Het
Chml	A	T	1: 175,514,601 (GRCm39)	L440H	probably damaging	Het
Chrnd	A	T	1: 87,122,603 (GRCm39)	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,498,677 (GRCm39)	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,926 (GRCm39)	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,136,519 (GRCm39)	R425L	probably damaging	Het
Daam1	A	G	12: 71,992,018 (GRCm39)	T279A	unknown	Het
Ebf2	G	T	14: 67,665,554 (GRCm39)	V571F	probably benign	Het
Elapor2	T	A	5: 9,487,792 (GRCm39)	N559K	probably damaging	Het
Elavl4	A	T	4: 110,063,776 (GRCm39)	I275N	probably damaging	Het
F11r	A	G	1: 171,288,505 (GRCm39)	Q116R	probably benign	Het
Foxred2	T	A	15: 77,829,805 (GRCm39)	D580V	probably benign	Het
Gatad1	A	C	5: 3,691,544 (GRCm39)	L4R	probably damaging	Het
Gcn1	T	A	5: 115,727,153 (GRCm39)	M670K	probably benign	Het
Greb1	A	T	12: 16,774,885 (GRCm39)	F171I	probably damaging	Het
Grin2b	A	G	6: 136,021,007 (GRCm39)	V98A	probably damaging	Het
Helz2	A	T	2: 180,871,407 (GRCm39)	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564 (GRCm39)		probably benign	Het
Ighv1-11	C	T	12: 114,575,864 (GRCm39)	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,741,754 (GRCm39)	S34T	probably damaging	Het
Il27ra	T	A	8: 84,767,711 (GRCm39)	N71Y	probably damaging	Het
Iqca1	G	T	1: 90,067,649 (GRCm39)	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,324,864 (GRCm39)	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,809,519 (GRCm39)	L13S	probably damaging	Het
Kif26b	G	A	1: 178,743,714 (GRCm39)	R1270Q	probably benign	Het
Klra10	A	T	6: 130,249,617 (GRCm39)		probably null	Het
Large1	A	T	8: 73,542,612 (GRCm39)	I704N	probably damaging	Het
Lrp1b	G	A	2: 40,888,196 (GRCm39)	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,255,001 (GRCm39)	M212L	probably benign	Het
Mab21l1	A	G	3: 55,690,348 (GRCm39)		probably benign	Het
Map4k4	A	T	1: 40,039,740 (GRCm39)	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Me1	A	T	9: 86,480,844 (GRCm39)	F354I	probably damaging	Het
Nlrp1b	A	G	11: 71,108,658 (GRCm39)	V281A	probably damaging	Het
Nrip2	A	G	6: 128,385,288 (GRCm39)	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471 (GRCm39)	V203A	probably damaging	Het
Or12e8	T	A	2: 87,187,950 (GRCm39)	I54K	possibly damaging	Het
Or4g17	A	T	2: 111,209,645 (GRCm39)	Q100L	probably damaging	Het
Or4n5	A	T	14: 50,132,509 (GRCm39)	M250K	probably benign	Het
Or8g2	A	G	9: 39,821,495 (GRCm39)	Y132C	probably damaging	Het
P4ha2	T	C	11: 54,004,995 (GRCm39)	F124L	probably benign	Het
Pcdha9	A	T	18: 37,131,750 (GRCm39)	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnd1	G	T	6: 115,949,506 (GRCm39)	S760*	probably null	Het
Polr1b	A	G	2: 128,957,576 (GRCm39)	T544A	probably benign	Het
Polr2g	T	C	19: 8,771,513 (GRCm39)	D153G	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,506,255 (GRCm39)	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,105,739 (GRCm39)	Y285F	probably benign	Het
Ryr3	A	G	2: 112,667,015 (GRCm39)		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Sftpd	A	G	14: 40,905,001 (GRCm39)	V30A	probably benign	Het
Sirt6	A	G	10: 81,462,378 (GRCm39)	V7A	probably benign	Het
Ska1	C	T	18: 74,330,639 (GRCm39)	V188M	probably damaging	Het
Skint8	G	A	4: 111,794,241 (GRCm39)	M210I	probably benign	Het
Slc6a11	A	G	6: 114,202,782 (GRCm39)		probably null	Het
Slc6a2	A	T	8: 93,715,702 (GRCm39)	H280L	probably benign	Het
Sptan1	T	C	2: 29,873,744 (GRCm39)	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,752,135 (GRCm39)	T518S	probably benign	Het
Thoc2l	T	C	5: 104,665,652 (GRCm39)	V58A	probably benign	Het
Tsc22d1	T	C	14: 76,656,266 (GRCm39)	M59T	probably benign	Het
Unc5cl	A	G	17: 48,769,361 (GRCm39)	T282A	probably benign	Het
Vav3	A	G	3: 109,590,229 (GRCm39)	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,315,926 (GRCm39)	V631A	probably damaging	Het
Zfp938	A	T	10: 82,061,287 (GRCm39)	F444L	possibly damaging	Het

Other mutations in Klhdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Klhdc2	APN	12	69,350,308 (GRCm39)	missense	probably benign	0.04
IGL00990:Klhdc2	APN	12	69,353,987 (GRCm39)	missense	probably benign	0.30
IGL01024:Klhdc2	APN	12	69,352,610 (GRCm39)	missense	probably benign	0.01
IGL01457:Klhdc2	APN	12	69,343,827 (GRCm39)	missense	probably benign
IGL01735:Klhdc2	APN	12	69,347,053 (GRCm39)	missense	probably benign	0.39
IGL01913:Klhdc2	APN	12	69,349,132 (GRCm39)	missense	probably benign	0.45
IGL02440:Klhdc2	APN	12	69,350,414 (GRCm39)	missense	probably damaging	1.00
Dixit_dominus	UTSW	12	69,355,750 (GRCm39)	nonsense	probably null
R0611:Klhdc2	UTSW	12	69,347,053 (GRCm39)	missense	probably benign	0.22
R0724:Klhdc2	UTSW	12	69,343,822 (GRCm39)	missense	probably benign
R1350:Klhdc2	UTSW	12	69,352,484 (GRCm39)	critical splice donor site	probably null
R1796:Klhdc2	UTSW	12	69,347,071 (GRCm39)	critical splice donor site	probably null
R1907:Klhdc2	UTSW	12	69,343,734 (GRCm39)	start gained	probably benign
R4418:Klhdc2	UTSW	12	69,354,371 (GRCm39)	unclassified	probably benign
R5119:Klhdc2	UTSW	12	69,343,736 (GRCm39)	utr 5 prime	probably benign
R5586:Klhdc2	UTSW	12	69,354,467 (GRCm39)	splice site	probably null
R5987:Klhdc2	UTSW	12	69,350,387 (GRCm39)	missense	possibly damaging	0.71
R6448:Klhdc2	UTSW	12	69,350,694 (GRCm39)	missense	probably benign
R6848:Klhdc2	UTSW	12	69,355,750 (GRCm39)	nonsense	probably null
R7824:Klhdc2	UTSW	12	69,354,002 (GRCm39)	missense	probably damaging	0.98
R7844:Klhdc2	UTSW	12	69,349,180 (GRCm39)	missense	probably damaging	1.00
R7886:Klhdc2	UTSW	12	69,351,406 (GRCm39)	splice site	probably null
R9775:Klhdc2	UTSW	12	69,350,393 (GRCm39)	missense	probably damaging	0.99
R9790:Klhdc2	UTSW	12	69,346,995 (GRCm39)	missense	probably benign	0.01
R9791:Klhdc2	UTSW	12	69,346,995 (GRCm39)	missense	probably benign	0.01
RF016:Klhdc2	UTSW	12	69,350,660 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CACATGTGTGTTCCATGTTACATAC -3'
(R):5'- AGCCAGACCACTGTTTCCAG -3'

Sequencing Primer
(F):5'- GTGTGTTCCATGTTACATACATACTC -3'
(R):5'- CAGGCATTGTGACACATGCCTTTAG -3'

Posted On

2021-08-31