Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Klhdc7b'

202670

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

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

Stock #

R1815 (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 89271800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 894 (E894G)

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: E236G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: E236G

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: E894G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly 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
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
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'- CTACAGACTGCAGGGACATC -3'
(R):5'- GAGCGGCTCACCTGATAAAG -3'

Sequencing Primer
(F):5'- TGCAGGGACATCCTCACAGAG -3'
(R):5'- TGGGTAGCACGAGGACC -3'

Posted On

2014-06-23