Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Klhdc2'

262015

Institutional Source

Beutler Lab

Gene Symbol

Klhdc2

Ensembl Gene

ENSMUSG00000020978

Gene Name

kelch domain containing 2

Synonyms

D12Ertd522e, HCLP-1, 2310022K15Rik

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0724 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69343455-69357461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69343822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 18 (F18L)

Ref Sequence

ENSEMBL: ENSMUSP00000021362 (fasta)

Gene Model

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

AlphaFold

Q4G5Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000021362
AA Change: F18L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978
AA Change: F18L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151571

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,573 (GRCm39)	E136G	probably benign	Het
Adgre4	T	A	17: 56,159,281 (GRCm39)	S655R	probably benign	Het
Ak7	T	A	12: 105,676,513 (GRCm39)	V71E	probably benign	Het
Ank2	C	T	3: 126,755,986 (GRCm39)	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,976,607 (GRCm39)	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,499,755 (GRCm39)	I109N	possibly damaging	Het
Camta1	A	G	4: 151,162,349 (GRCm39)	I119T	probably damaging	Het
Carm1	A	G	9: 21,498,670 (GRCm39)	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077 (GRCm39)	P177L	probably benign	Het
Ccdc122	C	A	14: 77,329,517 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,766,141 (GRCm39)	S158P	probably damaging	Het
Ces3a	T	A	8: 105,776,827 (GRCm39)	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,728,081 (GRCm39)	D583A	possibly damaging	Het
Corin	A	G	5: 72,490,138 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,610,283 (GRCm39)	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,214,408 (GRCm39)	T1027A	possibly damaging	Het
Dop1b	A	G	16: 93,559,213 (GRCm39)	E653G	probably benign	Het
Dst	A	G	1: 34,227,758 (GRCm39)	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,057,877 (GRCm39)	T64A	probably benign	Het
Emp2	C	T	16: 10,102,479 (GRCm39)	C111Y	probably benign	Het
Enam	A	G	5: 88,649,853 (GRCm39)	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,193,984 (GRCm39)	C1328S	probably benign	Het
Gata3	T	C	2: 9,879,386 (GRCm39)	T197A	probably benign	Het
Gm1043	A	G	5: 37,344,573 (GRCm39)	T212A	probably damaging	Het
H2-Eb1	T	C	17: 34,534,006 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,506 (GRCm39)	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,204,317 (GRCm39)	Y239*	probably null	Het
Hoxc12	A	G	15: 102,845,490 (GRCm39)	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,096,579 (GRCm39)	I143V	probably benign	Het
Kpnb1	T	C	11: 97,069,130 (GRCm39)	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,635,570 (GRCm39)	N315I	probably damaging	Het
Map3k10	A	C	7: 27,367,780 (GRCm39)	V286G	probably damaging	Het
Myo7b	G	A	18: 32,138,602 (GRCm39)		probably benign	Het
Nlrp2	G	T	7: 5,322,221 (GRCm39)	L809I	probably damaging	Het
Oacyl	T	C	18: 65,870,896 (GRCm39)		probably benign	Het
Or4q3	A	G	14: 50,583,374 (GRCm39)	V175A	possibly damaging	Het
Paxbp1	T	A	16: 90,833,424 (GRCm39)	D270V	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pira13	T	C	7: 3,819,871 (GRCm39)	N564S	possibly damaging	Het
Plcb3	G	A	19: 6,940,760 (GRCm39)	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,546,350 (GRCm39)	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,583,144 (GRCm39)	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,159,752 (GRCm39)	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,972,643 (GRCm39)		probably benign	Het
Smim14	A	G	5: 65,610,682 (GRCm39)		probably benign	Het
Sost	C	T	11: 101,857,744 (GRCm39)	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,652,301 (GRCm39)	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829 (GRCm39)	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,860,485 (GRCm39)	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tshr	T	C	12: 91,505,060 (GRCm39)	F666S	probably damaging	Het
Wdr1	A	G	5: 38,698,205 (GRCm39)	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,335,482 (GRCm39)	W416R	probably 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
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
R8963:Klhdc2	UTSW	12	69,347,065 (GRCm39)	nonsense	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'- TGGGATTCGCATTCTTTCCCCAAG -3'
(R):5'- TGCTCTCCTGAATGAGCAAGAGCC -3'

Sequencing Primer
(F):5'- TAAACAAggccccggcg -3'
(R):5'- CCTACTGACCTTGTAGCCG -3'

Posted On

2015-02-04