Mutagenetix > Incidental Mutation

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

045481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) 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 (GRCm38)

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]

AlphaFold

A0A286YD60

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 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cby2	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Or5g25	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Or6b1	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Or6c6	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Or8h10	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Klhdc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Klhdc7b	APN	15	89,387,369 (GRCm38)	missense	probably benign	0.02
IGL02711:Klhdc7b	APN	15	89,388,043 (GRCm38)	nonsense	probably null
R0115:Klhdc7b	UTSW	15	89,388,521 (GRCm38)	missense	probably benign	0.05
R0718:Klhdc7b	UTSW	15	89,388,169 (GRCm38)	missense	possibly damaging	0.91
R0729:Klhdc7b	UTSW	15	89,387,395 (GRCm38)	nonsense	probably null
R0971:Klhdc7b	UTSW	15	89,387,054 (GRCm38)	missense	possibly damaging	0.79
R1794:Klhdc7b	UTSW	15	89,387,020 (GRCm38)	missense	probably benign	0.00
R1815:Klhdc7b	UTSW	15	89,387,597 (GRCm38)	missense	probably damaging	0.99
R1893:Klhdc7b	UTSW	15	89,387,695 (GRCm38)	splice site	probably null
R3508:Klhdc7b	UTSW	15	89,386,892 (GRCm38)	start codon destroyed	probably null	0.98
R3552:Klhdc7b	UTSW	15	89,387,521 (GRCm38)	missense	probably benign	0.02
R4001:Klhdc7b	UTSW	15	89,387,984 (GRCm38)	missense	probably damaging	1.00
R4618:Klhdc7b	UTSW	15	89,387,269 (GRCm38)	missense	probably benign	0.01
R4727:Klhdc7b	UTSW	15	89,387,582 (GRCm38)	missense	probably damaging	1.00
R5129:Klhdc7b	UTSW	15	89,388,548 (GRCm38)	missense	probably damaging	1.00
R5549:Klhdc7b	UTSW	15	89,387,359 (GRCm38)	missense	probably benign	0.01
R5643:Klhdc7b	UTSW	15	89,387,659 (GRCm38)	missense	possibly damaging	0.85
R5778:Klhdc7b	UTSW	15	89,387,320 (GRCm38)	missense	probably damaging	1.00
R5906:Klhdc7b	UTSW	15	89,387,156 (GRCm38)	missense	probably benign	0.02
R5942:Klhdc7b	UTSW	15	89,387,431 (GRCm38)	missense	probably benign	0.03
R6020:Klhdc7b	UTSW	15	89,388,386 (GRCm38)	missense	probably damaging	1.00
R6653:Klhdc7b	UTSW	15	89,387,089 (GRCm38)	missense	probably benign	0.00
R6810:Klhdc7b	UTSW	15	89,388,356 (GRCm38)	missense	possibly damaging	0.61
R7548:Klhdc7b	UTSW	15	89,388,704 (GRCm38)	missense	probably damaging	0.96
R7640:Klhdc7b	UTSW	15	89,387,260 (GRCm38)	missense	possibly damaging	0.61
R8461:Klhdc7b	UTSW	15	89,387,621 (GRCm38)	missense	probably damaging	0.97
R8712:Klhdc7b	UTSW	15	89,386,822 (GRCm38)	missense	probably benign	0.07
R8890:Klhdc7b	UTSW	15	89,388,685 (GRCm38)	missense	probably benign	0.03
R9497:Klhdc7b	UTSW	15	89,388,260 (GRCm38)	missense	possibly damaging	0.56
R9785:Klhdc7b	UTSW	15	89,388,418 (GRCm38)	missense	probably damaging	1.00

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