Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Ankrd33b'

280574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd33b

Ensembl Gene

ENSMUSG00000022237

Gene Name

ankyrin repeat domain 33B

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

31291478-31367726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31367056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000037918 (fasta)

Gene Model

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

AlphaFold

Q3U0L2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044324
AA Change: T113A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237
AA Change: T113A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076942
AA Change: T113A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076209
Gene: ENSMUSG00000022237
AA Change: T113A

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000123325
AA Change: T113A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237
AA Change: T113A

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
AA Change: T113A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237
AA Change: T113A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227460

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	C	T	4: 144,418,411	R195H	probably benign	Het
Abcb11	T	C	2: 69,257,310	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Aox3	T	A	1: 58,127,650	N177K	probably benign	Het
Arhgap29	T	A	3: 122,004,257	V532E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Caskin1	G	T	17: 24,500,942	G401V	probably damaging	Het
Cemip	A	T	7: 83,951,563	M950K	probably damaging	Het
Chrd	T	C	16: 20,734,541	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,285,622	N212S	possibly damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Dlst	T	C	12: 85,118,568	S82P	probably benign	Het
Dmxl1	T	A	18: 49,894,178	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,495,717	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,080,845	M55K	probably benign	Het
Epdr1	A	T	13: 19,594,471	S50T	probably damaging	Het
Gm6169	G	T	13: 97,098,777		probably benign	Het
Gm7808	T	A	9: 19,928,017		probably benign	Het
Huwe1	T	A	X: 151,907,390	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,709,861	T319M	probably damaging	Het
Lama1	G	A	17: 67,716,789	V60M	probably damaging	Het
Lingo3	A	T	10: 80,835,859	L79Q	probably damaging	Het
Magi2	T	A	5: 20,228,453		probably null	Het
Mob2	C	A	7: 142,010,298	V33L	possibly damaging	Het
Mus81	G	A	19: 5,485,633		probably benign	Het
Nup210l	G	A	3: 90,136,862	G490D	probably damaging	Het
Olfr702	A	C	7: 106,823,698	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,309,818	V177A	probably damaging	Het
Pomt2	T	C	12: 87,111,552	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,861,769		probably benign	Het
Ptprq	T	C	10: 107,667,472	E775G	probably damaging	Het
Rad54l	T	C	4: 116,098,984	I549V	probably benign	Het
Ranbp10	T	C	8: 105,805,582	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884	T223S	probably benign	Het
Stxbp6	G	T	12: 44,902,048		probably benign	Het
Syne2	A	G	12: 75,946,706	D2085G	probably damaging	Het
Szt2	C	T	4: 118,388,564	R1064Q	probably benign	Het
Taar3	A	G	10: 23,950,167	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,670,443	S345P	probably damaging	Het
Tgm4	T	A	9: 123,046,529	I149N	probably damaging	Het
Tubal3	T	A	13: 3,930,675	I129N	probably damaging	Het
Vegfc	T	C	8: 54,181,401	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vwf	C	A	6: 125,616,034	L786M	probably benign	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
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
R6292:Ankrd33b	UTSW	15	31325085	critical splice donor site	probably null
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

Posted On

2015-04-16