Mutagenetix > Incidental Mutation

Incidental Mutation 'R5778:Klhdc7b'

446850

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

043376-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R5778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89269120-89273070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89271523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 802 (R802W)

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

possibly damaging
Transcript: ENSMUST00000166926
AA Change: R144W

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: R144W

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 damaging
Transcript: ENSMUST00000225666
AA Change: R802W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	A	G	8: 124,618,864 (GRCm39)	S340P	probably benign	Het
Anpep	T	C	7: 79,486,139 (GRCm39)	T528A	probably benign	Het
Apob	T	A	12: 8,065,074 (GRCm39)	D4014E	probably benign	Het
Atp23	A	G	10: 126,735,451 (GRCm39)	C78R	probably damaging	Het
Atp8b3	A	G	10: 80,356,007 (GRCm39)	F1235S	probably benign	Het
B3gnt3	T	C	8: 72,145,582 (GRCm39)	D262G	probably benign	Het
Bltp1	A	T	3: 37,012,863 (GRCm39)	I1848F	probably damaging	Het
Brca1	G	A	11: 101,416,127 (GRCm39)	A669V	possibly damaging	Het
Caprin2	A	T	6: 148,770,820 (GRCm39)	S391R	probably benign	Het
Cdh15	G	A	8: 123,583,326 (GRCm39)	R43Q	possibly damaging	Het
Celsr1	A	T	15: 85,917,156 (GRCm39)	N272K	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Dsg1b	A	T	18: 20,542,279 (GRCm39)	T929S	possibly damaging	Het
Dusp16	G	T	6: 134,695,277 (GRCm39)	T518N	probably benign	Het
Eno2	A	T	6: 124,743,261 (GRCm39)	H158Q	probably damaging	Het
Ep400	T	C	5: 110,867,450 (GRCm39)	D954G	unknown	Het
Erg28	T	C	12: 85,866,254 (GRCm39)	T75A	possibly damaging	Het
Fam135b	T	A	15: 71,350,881 (GRCm39)	T332S	probably damaging	Het
Fam221b	A	G	4: 43,660,683 (GRCm39)	F357L	probably damaging	Het
Fcgr2b	C	T	1: 170,790,957 (GRCm39)	G279R	probably damaging	Het
Fryl	A	T	5: 73,230,121 (GRCm39)	L1679M	probably damaging	Het
Galm	T	A	17: 80,435,146 (GRCm39)	M1K	probably null	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Hif3a	A	T	7: 16,785,909 (GRCm39)	I129N	probably damaging	Het
Ighv1-11	A	T	12: 114,576,051 (GRCm39)	W55R	probably damaging	Het
Ighv1-20	C	A	12: 114,687,497 (GRCm39)	K82N	probably benign	Het
Igsf21	C	T	4: 139,764,832 (GRCm39)	E148K	probably benign	Het
Il22b	C	A	10: 118,130,768 (GRCm39)	E43*	probably null	Het
Krt8	T	C	15: 101,912,374 (GRCm39)	I101V	probably damaging	Het
Lrrc7	A	G	3: 157,876,380 (GRCm39)	L570P	probably damaging	Het
Map4k1	C	G	7: 28,693,646 (GRCm39)	N412K	probably benign	Het
Metrnl	A	T	11: 121,605,564 (GRCm39)	I118F	possibly damaging	Het
Mmp12	T	A	9: 7,350,106 (GRCm39)	D202E	probably damaging	Het
Mpp2	A	T	11: 101,955,269 (GRCm39)	S119T	probably benign	Het
Ncoa6	T	C	2: 155,248,688 (GRCm39)	T1539A	probably benign	Het
Nlrc5	A	G	8: 95,206,154 (GRCm39)	T715A	possibly damaging	Het
Nsd1	T	A	13: 55,454,792 (GRCm39)	N1963K	probably damaging	Het
Nsd3	T	C	8: 26,149,834 (GRCm39)	Y340H	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or5d39	T	A	2: 87,979,961 (GRCm39)	Y134F	probably damaging	Het
Or7d10	G	T	9: 19,832,337 (GRCm39)	M277I	probably benign	Het
Pcdh8	T	C	14: 80,008,197 (GRCm39)	E122G	probably damaging	Het
Pcmtd2	A	C	2: 181,496,991 (GRCm39)	T323P	probably benign	Het
Pign	C	A	1: 105,519,447 (GRCm39)	G492C	probably damaging	Het
Plppr3	A	G	10: 79,702,337 (GRCm39)	V245A	possibly damaging	Het
Prl7a2	C	T	13: 27,844,983 (GRCm39)	W134*	probably null	Het
Prom1	A	T	5: 44,164,389 (GRCm39)	N722K	probably benign	Het
Rasal2	A	T	1: 156,988,860 (GRCm39)	N663K	probably damaging	Het
Rgl1	G	T	1: 152,428,172 (GRCm39)	H315Q	probably benign	Het
Smpdl3a	C	A	10: 57,677,097 (GRCm39)	A65E	probably damaging	Het
Spdye4b	G	A	5: 143,188,142 (GRCm39)	D212N	probably damaging	Het
Tafa3	T	A	3: 104,679,505 (GRCm39)	K126N	probably damaging	Het
Tanc1	G	T	2: 59,529,691 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,250 (GRCm39)	V706A	probably benign	Het
Tshz1	T	A	18: 84,033,805 (GRCm39)	Q201L	probably damaging	Het
Ubqln1	C	T	13: 58,331,131 (GRCm39)	M365I	probably benign	Het
Usp42	A	T	5: 143,705,331 (GRCm39)	Y383N	probably damaging	Het
Vmn1r189	A	G	13: 22,286,552 (GRCm39)	I95T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,274 (GRCm39)	S819R	probably damaging	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
R3552:Klhdc7b	UTSW	15	89,271,724 (GRCm39)	missense	probably benign	0.02
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
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'- AGAGACTAATGCATCTCTCACC -3'
(R):5'- TGAGCAGTACTTATGAGGCCC -3'

Sequencing Primer
(F):5'- TAATGCATCTCTCACCCCGGAC -3'
(R):5'- AGTACTTATGAGGCCCCTCCAC -3'

Posted On

2016-12-15