Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Kbtbd12'

598014

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd12

Ensembl Gene

ENSMUSG00000033182

Gene Name

kelch repeat and BTB (POZ) domain containing 12

Synonyms

Klhdc6, 4933428M03Rik, 4833415F11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88545114-88637950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88618197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 217 (Q217L)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184664] [ENSMUST00000184878]

AlphaFold

Q9D618

Predicted Effect

probably benign
Transcript: ENSMUST00000120933
AA Change: Q217L

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: Q217L

Domain	Start	End	E-Value	Type
BTB	29	126	1.39e-23	SMART
BACK	131	233	6.69e-30	SMART
Kelch	384	434	9.15e-3	SMART
Kelch	435	490	4.3e-8	SMART
Kelch	491	550	1.01e-1	SMART
Kelch	551	601	1.92e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184664

SMART Domains

Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182

Domain	Start	End	E-Value	Type
Pfam:BTB	19	77	6.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184878

SMART Domains

Protein: ENSMUSP00000139333
Gene: ENSMUSG00000033182

Domain	Start	End	E-Value	Type
Kelch	30	67	9.94e-1	SMART
Kelch	68	127	1.01e-1	SMART
Kelch	128	178	1.92e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,514,602	W899R	probably damaging	Het
Abca5	A	T	11: 110,272,497	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,527,368	D25V	probably damaging	Het
Akap10	G	C	11: 61,915,505	D132E	probably damaging	Het
Angptl2	G	T	2: 33,242,382	E334*	probably null	Het
Aprt	T	C	8: 122,574,935	R165G	probably benign	Het
B020004J07Rik	T	C	4: 101,837,141	I182V	possibly damaging	Het
Bmp1	A	G	14: 70,492,084	F549S	probably damaging	Het
Capzb	C	T	4: 139,280,553	T215I	probably benign	Het
Car14	C	T	3: 95,904,372	M1I	probably null	Het
Ccdc148	T	A	2: 58,823,636	Q501L	probably benign	Het
Ccdc32	G	A	2: 119,027,347	T12I	probably damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,573,834	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,312,577	S2670R	probably damaging	Het
Cdh8	T	A	8: 99,279,674	K94*	probably null	Het
Cdhr2	A	T	13: 54,717,692	Y193F	probably damaging	Het
Cdon	T	A	9: 35,454,415	Y153*	probably null	Het
Chd1	G	A	17: 15,733,041	G413R	probably damaging	Het
Cit	A	T	5: 115,987,001	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,964,340	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,645	D253E	probably damaging	Het
Cyhr1	A	T	15: 76,658,547	Y138N	probably damaging	Het
Cyp2c40	T	A	19: 39,807,168	N189I	possibly damaging	Het
Daam2	G	T	17: 49,490,022	A245E	probably benign	Het
Dennd5b	A	G	6: 149,068,658	F121S	probably damaging	Het
Dgkd	A	G	1: 87,926,949	T658A	probably benign	Het
Dmwd	T	A	7: 19,080,340	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,313,855	Y1939F	probably damaging	Het
Dock5	T	C	14: 67,821,327	T512A	probably damaging	Het
Dopey2	T	A	16: 93,755,514	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,618,529	H207R	probably damaging	Het
Egfr	T	C	11: 16,891,266	V719A	probably damaging	Het
Ep300	A	T	15: 81,586,583		probably benign	Het
Epha4	A	G	1: 77,390,031		probably null	Het
Erc2	T	G	14: 27,876,204		probably null	Het
Ergic1	A	T	17: 26,638,827	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,326,633	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478	T1841S	probably benign	Het
Foxc1	G	A	13: 31,808,028	S274N	probably benign	Het
Fto	C	T	8: 91,409,443	T115M	probably damaging	Het
Gm10228	C	G	16: 89,041,299	C39S	unknown	Het
Gm7334	T	C	17: 50,698,715	F10L	possibly damaging	Het
Hfm1	A	G	5: 106,881,861	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,159,461	S1726T	probably benign	Het
Htt	G	T	5: 34,852,190	C1505F	probably damaging	Het
Hydin	T	C	8: 110,505,843	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,642,879	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,399,293	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,153,207	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,910,579	S59P	probably benign	Het
Iglv1	A	G	16: 19,085,489		probably benign	Het
Ipo7	T	A	7: 110,052,799	D928E	possibly damaging	Het
Itgae	G	T	11: 73,123,269		probably null	Het
Kcnma1	T	A	14: 23,300,006	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,516,383	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,491,046	Y10F	probably benign	Het
Lrp2	A	T	2: 69,503,388	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,708,640	D355E	probably benign	Het
Mri1	T	C	8: 84,251,028	H226R		Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Muc4	T	A	16: 32,753,311	L1063H	probably benign	Het
Mzf1	A	T	7: 13,044,091	I541N	probably damaging	Het
Nasp	T	A	4: 116,612,033	E116D	probably benign	Het
Nlrp10	T	A	7: 108,925,826	E149V	probably damaging	Het
Notch4	G	A	17: 34,582,418	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,720,698	I147L	unknown	Het
Ogdh	A	G	11: 6,338,558	M223V	probably benign	Het
Olfr1391	G	T	11: 49,327,671	A87S	probably benign	Het
Olfr444	T	C	6: 42,955,789	I97T	probably benign	Het
Olfr732	A	T	14: 50,281,488	I255N	probably damaging	Het
Olfr792	G	T	10: 129,541,455	R306L	probably benign	Het
P3h3	T	C	6: 124,854,432	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,411,882	T4A	not run	Het
Pkd2l2	A	T	18: 34,433,287		probably null	Het
Plekhb1	C	T	7: 100,645,663	V168I	probably benign	Het
Plxna4	C	T	6: 32,223,980	R753H	probably damaging	Het
Prex1	G	C	2: 166,713,709	P4A	unknown	Het
Ptgdr	A	G	14: 44,859,078	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,757,955	I519F	probably benign	Het
Rbpms	A	G	8: 33,789,453	I170T	probably benign	Het
Sec31b	T	A	19: 44,523,835		probably null	Het
Skint11	A	T	4: 114,227,708	Y138F	probably benign	Het
Slain2	A	G	5: 72,948,610	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,676,224	C503*	probably null	Het
Slfn3	A	T	11: 83,214,788	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,444,765	Y443H	probably damaging	Het
Sorl1	T	A	9: 42,043,909	E683D	probably damaging	Het
Sos1	T	A	17: 80,413,713	I893L	probably benign	Het
St8sia2	T	A	7: 73,943,321	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570	S212*	probably null	Het
Syne3	C	T	12: 104,997,495		probably benign	Het
Tenm4	T	A	7: 96,895,692	I2342N	probably benign	Het
Tescl	T	A	7: 24,333,263	E212D	probably benign	Het
Trip11	A	G	12: 101,844,855	S1879P	probably benign	Het
Ube2c	A	T	2: 164,771,291		probably null	Het
Umodl1	T	A	17: 30,986,456	I675N	probably benign	Het
Vipr2	T	C	12: 116,122,718	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,620,669	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,410,913	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,603,118	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 85,005,701	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,080,535	F600L	probably benign	Het
Vps13a	T	A	19: 16,746,000	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,741,162	D747A	possibly damaging	Het
Xdh	G	A	17: 73,934,834	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,998,348		probably null	Het
Zfp362	T	A	4: 128,787,031	H180L	probably benign	Het
Zfp560	A	T	9: 20,347,323	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,172,664	Q569L	probably benign	Het
Zfp93	T	A	7: 24,275,218	D209E	possibly damaging	Het

Other mutations in Kbtbd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Kbtbd12	APN	6	88618558	missense	probably benign	0.08
IGL01845:Kbtbd12	APN	6	88613940	missense	probably benign	0.16
IGL02447:Kbtbd12	APN	6	88618694	missense	probably damaging	1.00
IGL02623:Kbtbd12	APN	6	88618389	missense	probably damaging	1.00
IGL02851:Kbtbd12	APN	6	88618329	missense	probably benign	0.18
R0334:Kbtbd12	UTSW	6	88617906	missense	probably damaging	0.99
R1689:Kbtbd12	UTSW	6	88618585	missense	probably damaging	1.00
R1712:Kbtbd12	UTSW	6	88618694	missense	probably damaging	1.00
R1777:Kbtbd12	UTSW	6	88618060	missense	probably benign	0.00
R2037:Kbtbd12	UTSW	6	88617797	missense	probably benign	0.00
R3967:Kbtbd12	UTSW	6	88618506	missense	probably benign	0.01
R4660:Kbtbd12	UTSW	6	88617790	missense	probably benign	0.44
R4785:Kbtbd12	UTSW	6	88618021	missense	probably damaging	1.00
R5224:Kbtbd12	UTSW	6	88617699	intron	probably benign
R5568:Kbtbd12	UTSW	6	88618627	missense	probably damaging	1.00
R6051:Kbtbd12	UTSW	6	88617948	missense	possibly damaging	0.69
R6412:Kbtbd12	UTSW	6	88618656	missense	probably damaging	1.00
R6525:Kbtbd12	UTSW	6	88614080	missense	probably benign	0.29
R6776:Kbtbd12	UTSW	6	88618266	missense	probably damaging	0.97
R7046:Kbtbd12	UTSW	6	88618515	missense	possibly damaging	0.89
R7157:Kbtbd12	UTSW	6	88618668	missense	probably damaging	1.00
R7224:Kbtbd12	UTSW	6	88613983	nonsense	probably null
R7303:Kbtbd12	UTSW	6	88614112	missense	unknown
R7650:Kbtbd12	UTSW	6	88618548	missense	probably damaging	1.00
R7982:Kbtbd12	UTSW	6	88618634	missense	possibly damaging	0.61
R8103:Kbtbd12	UTSW	6	88618681	missense	probably damaging	1.00
R8195:Kbtbd12	UTSW	6	88617931	missense	possibly damaging	0.64
R8305:Kbtbd12	UTSW	6	88618150	missense	possibly damaging	0.50
R9072:Kbtbd12	UTSW	6	88618440	missense	probably damaging	1.00
R9073:Kbtbd12	UTSW	6	88618440	missense	probably damaging	1.00
R9438:Kbtbd12	UTSW	6	88614058	nonsense	probably null
R9773:Kbtbd12	UTSW	6	88547762	missense	probably damaging	1.00
Z1177:Kbtbd12	UTSW	6	88618668	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCAATGCAAAGCAGAAGG -3'
(R):5'- GCAGAAGATTTATCGGATCAGTCG -3'

Sequencing Primer
(F):5'- CAGAAGGCTGGTGGTCTCCATG -3'
(R):5'- GAAGTATTTATACCAGCACTTCGCCG -3'

Posted On

2019-11-26