Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Klhdc7b'

460368

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7b

Ensembl Gene

ENSMUSG00000091680

Gene Name

kelch domain containing 7B

Synonyms

EG546648

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

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

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89269120-89273070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89271634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 839 (I839L)

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: I181L

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

SMART Domains

Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: I181L

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: I839L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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
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'- CGCCTACTTCTATGAGGCAG -3'
(R):5'- GTTGTTGCTCATCAAGACATAGGTC -3'

Sequencing Primer
(F):5'- CCTACTTCTATGAGGCAGGATGC -3'
(R):5'- ACATAGGTCTCCTGGGCTAAG -3'

Posted On

2017-02-28