Mutagenetix > Incidental Mutations

Incidental Mutation 'R7399:Klhdc7b'

574061

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89384917-89388867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89388644 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 585 (K585T)

Ref Sequence

ENSEMBL: ENSMUSP00000130884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109314] [ENSMUST00000166926] [ENSMUST00000167959] [ENSMUST00000225666]

Predicted Effect

probably benign
Transcript: ENSMUST00000109314

SMART Domains

Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938

Domain	Start	End	E-Value	Type
Pfam:Synaptonemal_3	1	86	4e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166926
AA Change: K585T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: K585T

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
Kelch	366	416	1.04e-6	SMART
Kelch	417	461	4.9e-3	SMART
Kelch	462	504	4.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167959

SMART Domains

Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938

Domain	Start	End	E-Value	Type
Pfam:Synaptonemal_3	1	85	6.6e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225666
AA Change: K1243T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	Het

Other mutations in Klhdc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Klhdc7b	APN	15	89387369	missense	probably benign	0.02
IGL02711:Klhdc7b	APN	15	89388043	nonsense	probably null
R0115:Klhdc7b	UTSW	15	89388521	missense	probably benign	0.05
R0718:Klhdc7b	UTSW	15	89388169	missense	possibly damaging	0.91
R0729:Klhdc7b	UTSW	15	89387395	nonsense	probably null
R0971:Klhdc7b	UTSW	15	89387054	missense	possibly damaging	0.79
R1794:Klhdc7b	UTSW	15	89387020	missense	probably benign	0.00
R1815:Klhdc7b	UTSW	15	89387597	missense	probably damaging	0.99
R1893:Klhdc7b	UTSW	15	89387695	splice site	probably null
R3508:Klhdc7b	UTSW	15	89386892	start codon destroyed	probably null	0.98
R3552:Klhdc7b	UTSW	15	89387521	missense	probably benign	0.02
R4001:Klhdc7b	UTSW	15	89387984	missense	probably damaging	1.00
R4618:Klhdc7b	UTSW	15	89387269	missense	probably benign	0.01
R4727:Klhdc7b	UTSW	15	89387582	missense	probably damaging	1.00
R5129:Klhdc7b	UTSW	15	89388548	missense	probably damaging	1.00
R5549:Klhdc7b	UTSW	15	89387359	missense	probably benign	0.01
R5643:Klhdc7b	UTSW	15	89387659	missense	possibly damaging	0.85
R5778:Klhdc7b	UTSW	15	89387320	missense	probably damaging	1.00
R5906:Klhdc7b	UTSW	15	89387156	missense	probably benign	0.02
R5942:Klhdc7b	UTSW	15	89387431	missense	probably benign	0.03
R6020:Klhdc7b	UTSW	15	89388386	missense	probably damaging	1.00
R6653:Klhdc7b	UTSW	15	89387089	missense	probably benign	0.00
R6810:Klhdc7b	UTSW	15	89388356	missense	possibly damaging	0.61
R7548:Klhdc7b	UTSW	15	89388704	missense	probably damaging	0.96
R7640:Klhdc7b	UTSW	15	89387260	missense	possibly damaging	0.61
R8461:Klhdc7b	UTSW	15	89387621	missense	probably damaging	0.97
R8712:Klhdc7b	UTSW	15	89386822	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TACAACACAGTGACCGGCTC -3'
(R):5'- ACCAGCCCTTAACCTGATGG -3'

Sequencing Primer
(F):5'- AGTGACCGGCTCCTGGAG -3'
(R):5'- CTTTAGGCACAAGAGCAGTTCTG -3'

Posted On

2019-09-13