Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Ankrd33b'

508517

Institutional Source

Beutler Lab

Gene Symbol

Ankrd33b

Ensembl Gene

ENSMUSG00000022237

Gene Name

ankyrin repeat domain 33B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31291478-31367726 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 31325085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044324] [ENSMUST00000076942] [ENSMUST00000110410] [ENSMUST00000123325] [ENSMUST00000156679]

AlphaFold

Q3U0L2

Predicted Effect

probably benign
Transcript: ENSMUST00000044324

SMART Domains

Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000076942

SMART Domains

Protein: ENSMUSP00000076209
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	2e-10	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000110410

SMART Domains

Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	106	5e-6	BLAST
ANK	107	137	2.32e2	SMART
ANK	141	170	8.86e-2	SMART
ANK	176	205	1.59e-3	SMART
ANK	210	240	1.27e3	SMART
low complexity region	363	382	N/A	INTRINSIC
low complexity region	388	410	N/A	INTRINSIC
coiled coil region	440	470	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123325

SMART Domains

Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	5e-9	BLAST
ANK	116	146	6.51e0	SMART
ANK	150	179	8.86e-2	SMART
ANK	185	214	1.59e-3	SMART
ANK	219	249	1.27e3	SMART
low complexity region	372	391	N/A	INTRINSIC
low complexity region	397	419	N/A	INTRINSIC
coiled coil region	449	479	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156679

SMART Domains

Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	1e-9	BLAST
ANK	116	146	6.51e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227391

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,200,251	V709E	probably damaging	Het
Apaf1	T	C	10: 90,991,563	T1202A	possibly damaging	Het
Apip	G	T	2: 103,092,467	C210F	probably benign	Het
Chd9	A	T	8: 90,932,922	H170L	probably benign	Het
Clec16a	T	C	16: 10,560,151		probably null	Het
Ep300	T	A	15: 81,616,734		probably benign	Het
Etl4	C	T	2: 20,743,573	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,451,507	I218F	probably damaging	Het
Gm5141	A	T	13: 62,774,438	C306S	probably damaging	Het
Gm9961	C	T	16: 11,930,472		noncoding transcript	Het
Gpr27	C	T	6: 99,693,658	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,998,808	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,614,790	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,920,826		probably null	Het
Lilra5	T	C	7: 4,238,339	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,616,445	N418K	probably damaging	Het
Miga1	A	G	3: 152,317,719	F232L	probably benign	Het
Mkrn2	T	A	6: 115,613,334	M217K	probably damaging	Het
Myh7b	A	T	2: 155,632,396	Q1677L	probably damaging	Het
N4bp1	T	C	8: 86,853,239	E645G	probably damaging	Het
Nckap5	T	C	1: 125,915,015	K1752E	probably damaging	Het
Nek1	A	G	8: 61,054,736		probably null	Het
Ntng1	T	C	3: 110,143,886		probably benign	Het
Nup133	A	G	8: 123,917,437	V730A	probably benign	Het
Olfr314	T	A	11: 58,786,237	M1K	probably null	Het
Olfr620	T	A	7: 103,612,179	H58L	probably damaging	Het
Paqr6	C	T	3: 88,367,898	P213S	probably damaging	Het
Pign	A	T	1: 105,585,077	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,659,620	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,744,152	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,664,592	D210G	probably benign	Het
Slc38a3	A	T	9: 107,655,154	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,254,926	N465D	probably damaging	Het
Slc5a5	G	A	8: 70,891,178	T160I	probably damaging	Het
Smarca2	C	T	19: 26,630,892	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,062,587	R371H	probably damaging	Het
Taf4	A	G	2: 179,923,987	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,506,254	C540F	probably benign	Het
Thumpd1	A	T	7: 119,720,674	L23Q	probably benign	Het
Top1	A	T	2: 160,698,141	Y213F	probably benign	Het
Txndc5	T	C	13: 38,528,184		probably null	Het
Unc79	C	A	12: 103,142,732	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,438,171	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,669,652	S290C	probably benign	Het
Vmn2r103	A	G	17: 19,793,604	I219M	possibly damaging	Het
Wapl	A	G	14: 34,729,195	T729A	probably damaging	Het
Washc5	C	T	15: 59,355,934	R393H	probably damaging	Het

Other mutations in Ankrd33b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02031:Ankrd33b	APN	15	31325183	missense	probably damaging	1.00
IGL02074:Ankrd33b	APN	15	31297661	missense	probably damaging	1.00
IGL02120:Ankrd33b	APN	15	31367056	missense	possibly damaging	0.91
Opposition	UTSW	15	31325085	critical splice donor site	probably null
R0046:Ankrd33b	UTSW	15	31367337	missense	probably damaging	1.00
R0082:Ankrd33b	UTSW	15	31297789	missense	probably benign	0.00
R0357:Ankrd33b	UTSW	15	31305126	missense	probably benign	0.02
R0518:Ankrd33b	UTSW	15	31367286	missense	probably damaging	0.99
R0521:Ankrd33b	UTSW	15	31367286	missense	probably damaging	0.99
R1512:Ankrd33b	UTSW	15	31367229	missense	probably damaging	1.00
R1708:Ankrd33b	UTSW	15	31305009	missense	probably damaging	1.00
R1818:Ankrd33b	UTSW	15	31367121	missense	probably damaging	0.96
R2005:Ankrd33b	UTSW	15	31297668	missense	probably damaging	1.00
R4648:Ankrd33b	UTSW	15	31325024	makesense	probably null
R5391:Ankrd33b	UTSW	15	31325206	missense	probably damaging	0.99
R6639:Ankrd33b	UTSW	15	31297672	missense	probably damaging	1.00
R7105:Ankrd33b	UTSW	15	31305068	missense	probably damaging	1.00
R7742:Ankrd33b	UTSW	15	31367392	start codon destroyed	probably null	0.77
R8431:Ankrd33b	UTSW	15	31305102	missense	probably damaging	1.00
R8900:Ankrd33b	UTSW	15	31297684	missense	probably damaging	1.00
R8946:Ankrd33b	UTSW	15	31297748	missense	probably benign	0.03
R9203:Ankrd33b	UTSW	15	31297882	missense	probably benign	0.28
R9344:Ankrd33b	UTSW	15	31297757	missense	probably damaging	0.98
Z1177:Ankrd33b	UTSW	15	31305133	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTAAGTGTGCTGTTCCAAG -3'
(R):5'- AAGACAGCTGTTCCCCTCAG -3'

Sequencing Primer
(F):5'- GCTGTTCCAAGAGCACACAGAG -3'
(R):5'- AGCTCACTGATAACGCTTGG -3'

Posted On

2018-03-15