Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Klhdc7b'

269020

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89269120-89273070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89271724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 869 (Y869H)

Ref Sequence

ENSEMBL: ENSMUSP00000153286 (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

probably benign
Transcript: ENSMUST00000166926
AA Change: Y211H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: Y211H

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

probably benign
Transcript: ENSMUST00000225666
AA Change: Y869H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Agk	A	G	6: 40,371,615 (GRCm39)	T371A	probably benign	Het
Akna	T	C	4: 63,316,361 (GRCm39)	M1V	probably null	Het
Aldh7a1	T	C	18: 56,683,364 (GRCm39)		probably null	Het
Ankrd26	A	T	6: 118,484,737 (GRCm39)	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,129,584 (GRCm39)	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,167,598 (GRCm39)	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,744,859 (GRCm39)	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Chrm2	A	T	6: 36,500,745 (GRCm39)	I201F	probably damaging	Het
Col16a1	A	G	4: 129,970,834 (GRCm39)	T618A	probably benign	Het
Dele1	A	G	18: 38,391,418 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,611,787 (GRCm39)	Y192C	probably benign	Het
Ep400	T	A	5: 110,877,153 (GRCm39)	E821V	unknown	Het
Esrrg	G	A	1: 187,882,387 (GRCm39)	V215I	probably benign	Het
Evx1	A	T	6: 52,293,908 (GRCm39)	S359C	probably damaging	Het
Fcrl2	A	G	3: 87,166,717 (GRCm39)	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,948,110 (GRCm39)	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,179,613 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 191,921,074 (GRCm39)	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,614,584 (GRCm39)	I323T	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,306 (GRCm39)	W311R	probably damaging	Het
Megf11	A	G	9: 64,602,745 (GRCm39)	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,421,442 (GRCm39)	S4311G	probably benign	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,801,161 (GRCm39)	K1140M	probably damaging	Het
Oc90	T	C	15: 65,750,650 (GRCm39)	Q365R	possibly damaging	Het
Oplah	C	T	15: 76,186,294 (GRCm39)	D734N	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Or4c58	A	C	2: 89,674,687 (GRCm39)	M210R	possibly damaging	Het
Or9g3	T	C	2: 85,590,237 (GRCm39)	N161S	possibly damaging	Het
Pbx1	G	A	1: 167,986,362 (GRCm39)	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Phox2b	C	A	5: 67,254,999 (GRCm39)	R150L	probably damaging	Het
Plscr2	A	G	9: 92,172,848 (GRCm39)	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,852,497 (GRCm39)	Q518L	probably benign	Het
Rbl1	A	T	2: 157,037,505 (GRCm39)	I214K	probably benign	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,582,132 (GRCm39)	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,963,470 (GRCm39)	Y615C	probably benign	Het
Sirt5	A	T	13: 43,536,643 (GRCm39)	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,252,422 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,917,358 (GRCm39)	V226A	probably damaging	Het
Slf2	C	A	19: 44,923,390 (GRCm39)	S68*	probably null	Het
Smyd5	G	A	6: 85,419,193 (GRCm39)	E292K	probably damaging	Het
Spns1	A	G	7: 125,969,543 (GRCm39)	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141 (GRCm39)	Q173L	unknown	Het
Ssrp1	C	A	2: 84,874,736 (GRCm39)	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,287,705 (GRCm39)	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Tnxb	A	T	17: 34,937,695 (GRCm39)	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,516,579 (GRCm39)		probably benign	Het
Trpm7	T	A	2: 126,668,630 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,314,815 (GRCm39)	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,753,477 (GRCm39)	H213R	possibly damaging	Het
Washc2	A	G	6: 116,197,529 (GRCm39)	D168G	probably damaging	Het
Washc4	A	G	10: 83,382,720 (GRCm39)	I45V	probably benign	Het
Zfp352	A	G	4: 90,113,339 (GRCm39)	E493G	probably benign	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,602,067 (GRCm39)	S337*	probably null	Het

Other mutations in Klhdc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Klhdc7b	APN	15	89,271,572 (GRCm39)	missense	probably benign	0.02
IGL02711:Klhdc7b	APN	15	89,272,246 (GRCm39)	nonsense	probably null
R0115:Klhdc7b	UTSW	15	89,272,724 (GRCm39)	missense	probably benign	0.05
R0718:Klhdc7b	UTSW	15	89,272,372 (GRCm39)	missense	possibly damaging	0.91
R0729:Klhdc7b	UTSW	15	89,271,598 (GRCm39)	nonsense	probably null
R0971:Klhdc7b	UTSW	15	89,271,257 (GRCm39)	missense	possibly damaging	0.79
R1794:Klhdc7b	UTSW	15	89,271,223 (GRCm39)	missense	probably benign	0.00
R1815:Klhdc7b	UTSW	15	89,271,800 (GRCm39)	missense	probably damaging	0.99
R1893:Klhdc7b	UTSW	15	89,271,898 (GRCm39)	splice site	probably null
R3508:Klhdc7b	UTSW	15	89,271,095 (GRCm39)	start codon destroyed	probably null	0.98
R4001:Klhdc7b	UTSW	15	89,272,187 (GRCm39)	missense	probably damaging	1.00
R4618:Klhdc7b	UTSW	15	89,271,472 (GRCm39)	missense	probably benign	0.01
R4727:Klhdc7b	UTSW	15	89,271,785 (GRCm39)	missense	probably damaging	1.00
R5129:Klhdc7b	UTSW	15	89,272,751 (GRCm39)	missense	probably damaging	1.00
R5549:Klhdc7b	UTSW	15	89,271,562 (GRCm39)	missense	probably benign	0.01
R5643:Klhdc7b	UTSW	15	89,271,862 (GRCm39)	missense	possibly damaging	0.85
R5778:Klhdc7b	UTSW	15	89,271,523 (GRCm39)	missense	probably damaging	1.00
R5906:Klhdc7b	UTSW	15	89,271,359 (GRCm39)	missense	probably benign	0.02
R5942:Klhdc7b	UTSW	15	89,271,634 (GRCm39)	missense	probably benign	0.03
R6020:Klhdc7b	UTSW	15	89,272,589 (GRCm39)	missense	probably damaging	1.00
R6653:Klhdc7b	UTSW	15	89,271,292 (GRCm39)	missense	probably benign	0.00
R6810:Klhdc7b	UTSW	15	89,272,559 (GRCm39)	missense	possibly damaging	0.61
R7399:Klhdc7b	UTSW	15	89,272,847 (GRCm39)	missense	possibly damaging	0.78
R7548:Klhdc7b	UTSW	15	89,272,907 (GRCm39)	missense	probably damaging	0.96
R7640:Klhdc7b	UTSW	15	89,271,463 (GRCm39)	missense	possibly damaging	0.61
R8461:Klhdc7b	UTSW	15	89,271,824 (GRCm39)	missense	probably damaging	0.97
R8712:Klhdc7b	UTSW	15	89,271,025 (GRCm39)	missense	probably benign	0.07
R8890:Klhdc7b	UTSW	15	89,272,888 (GRCm39)	missense	probably benign	0.03
R9497:Klhdc7b	UTSW	15	89,272,463 (GRCm39)	missense	possibly damaging	0.56
R9785:Klhdc7b	UTSW	15	89,272,621 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATGAGGCAGGATGCTCAG -3'
(R):5'- GGTCTCCCAGAACATGCAGTAAG -3'

Sequencing Primer
(F):5'- CGCAGCATAGCTCAGAGC -3'
(R):5'- CCCAGAACATGCAGTAAGTTGTTGC -3'

Posted On

2015-02-19