Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Kbtbd12'

189569

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

039722-MU

Accession Numbers

Essential gene?

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

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88545114-88637950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88618585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 88 (Y88N)

Ref Sequence

ENSEMBL: ENSMUSP00000112581 (fasta)

Gene Model

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

AlphaFold

Q9D618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038804

SMART Domains

Protein: ENSMUSP00000047155
Gene: ENSMUSG00000033182

Domain	Start	End	E-Value	Type
BTB	29	126	1.39e-23	SMART
BACK	131	233	6.69e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120933
AA Change: Y88N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: Y88N

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

noncoding transcript
Transcript: ENSMUST00000184591

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203223

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	probably 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
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
R7763:Kbtbd12	UTSW	6	88618197	missense	probably benign	0.31
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'- ATGAAGGCTTACCTCGGCGAAGTG -3'
(R):5'- GGGGAAACACCAGCATAGCTTGAAC -3'

Sequencing Primer
(F):5'- CGACTGATCCGATAAATCTTCTG -3'
(R):5'- AATGATTGATGTAGTGCTCATAGCAG -3'

Posted On

2014-05-14