Mutagenetix > Incidental Mutation

Incidental Mutation 'R5549:Klhdc7b'

435064

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

043106-MU

Accession Numbers

Essential gene?

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

Stock #

R5549 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89269120-89273070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89271562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 815 (I815V)

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: I157V

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

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: I157V

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: I815V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,993 (GRCm39)	E324G	possibly damaging	Het
Acad8	C	T	9: 26,896,847 (GRCm39)	R204Q	probably damaging	Het
Adgrg7	T	G	16: 56,570,790 (GRCm39)	T413P	probably damaging	Het
Ankrd11	A	G	8: 123,617,117 (GRCm39)	I2224T	probably benign	Het
Arhgap23	A	G	11: 97,357,394 (GRCm39)	D964G	probably damaging	Het
Atf6b	A	G	17: 34,870,657 (GRCm39)	D367G	probably damaging	Het
Axdnd1	A	G	1: 156,226,104 (GRCm39)	L131P	probably damaging	Het
Bmp8b	T	C	4: 123,018,278 (GRCm39)	V383A	probably damaging	Het
C5ar2	A	G	7: 15,970,868 (GRCm39)	V353A	probably damaging	Het
Ccr5	C	A	9: 123,925,408 (GRCm39)	A337E	probably benign	Het
Cftr	G	A	6: 18,227,953 (GRCm39)	V382I	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Cyp2d12	A	G	15: 82,440,498 (GRCm39)	T96A	probably benign	Het
Diaph3	T	G	14: 87,216,106 (GRCm39)	I465L	probably benign	Het
Fabp3	A	G	4: 130,209,018 (GRCm39)	*134W	probably null	Het
Fgf22	G	T	10: 79,592,696 (GRCm39)	M130I	probably damaging	Het
Flnc	G	A	6: 29,453,690 (GRCm39)	V1792M	probably damaging	Het
Grik3	G	A	4: 125,579,838 (GRCm39)	A528T	possibly damaging	Het
Hecw2	G	A	1: 53,964,850 (GRCm39)	R659W	possibly damaging	Het
Hmbs	C	T	9: 44,250,774 (GRCm39)		probably null	Het
Ift122	T	G	6: 115,868,983 (GRCm39)	L490R	probably damaging	Het
Igkv4-63	T	C	6: 69,355,116 (GRCm39)	H55R	probably damaging	Het
Itga4	A	T	2: 79,086,611 (GRCm39)	N96I	probably damaging	Het
Kcna7	A	T	7: 45,056,063 (GRCm39)	H93L	probably damaging	Het
Lcmt1	G	A	7: 123,027,330 (GRCm39)	E298K	probably damaging	Het
Ly6g6f	A	G	17: 35,302,333 (GRCm39)	V68A	possibly damaging	Het
Map3k8	C	T	18: 4,340,762 (GRCm39)	C184Y	probably damaging	Het
Mcemp1	A	G	8: 3,718,340 (GRCm39)	T183A	possibly damaging	Het
Mobp	T	G	9: 119,996,876 (GRCm39)	S2R	probably damaging	Het
Mprip	A	G	11: 59,651,644 (GRCm39)	S1783G	probably benign	Het
Mterf3	C	A	13: 67,076,321 (GRCm39)	A129S	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nr2c1	A	G	10: 94,003,558 (GRCm39)	T239A	probably benign	Het
Odr4	A	G	1: 150,247,909 (GRCm39)	S325P	possibly damaging	Het
Oplah	G	A	15: 76,182,466 (GRCm39)	A963V	probably damaging	Het
Or13a26	A	G	7: 140,284,712 (GRCm39)		probably null	Het
Parp14	C	T	16: 35,661,505 (GRCm39)	S1481N	probably benign	Het
Prxl2a	T	C	14: 40,726,013 (GRCm39)	K44E	possibly damaging	Het
Rictor	C	T	15: 6,816,391 (GRCm39)	T1221M	probably damaging	Het
Rpe	G	A	1: 66,755,163 (GRCm39)	D182N	probably damaging	Het
Slc24a3	C	A	2: 145,448,784 (GRCm39)	P443T	probably damaging	Het
Slc25a47	T	C	12: 108,822,143 (GRCm39)	*311Q	probably null	Het
Sox2	C	G	3: 34,705,142 (GRCm39)	A193G	probably benign	Het
Svep1	T	C	4: 58,057,954 (GRCm39)	S3284G	probably benign	Het
Zfp369	A	T	13: 65,445,194 (GRCm39)	H779L	probably damaging	Het
Zfp513	A	T	5: 31,357,947 (GRCm39)	L144Q	possibly damaging	Het
Zfp526	T	C	7: 24,925,109 (GRCm39)	F456S	possibly damaging	Het
Zfp791	C	T	8: 85,836,835 (GRCm39)	G343D	probably damaging	Het
Zfp941	A	C	7: 140,388,021 (GRCm39)	I664S	possibly damaging	Het
Zkscan3	A	G	13: 21,578,233 (GRCm39)	V189A	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
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'- TTAGAGACTAATGCATCTCTCACC -3'
(R):5'- AGCAGTACTTATGAGGCCCC -3'

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

Posted On

2016-10-24