Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03394:Ankrd27'

421203

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03394

Quality Score

Status

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 35607098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000186245] [ENSMUST00000190503] [ENSMUST00000206157] [ENSMUST00000206472]

AlphaFold

Q3UMR0

Predicted Effect

probably null
Transcript: ENSMUST00000040844

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	8e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	742	774	8.39e-3	SMART
ANK	775	804	5.93e-3	SMART
ANK	808	837	4.46e-7	SMART
ANK	841	870	2.81e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000186245

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	1e-8	BLAST
VPS9	264	377	2.19e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190503

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	7e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	687	719	8.39e-3	SMART
ANK	720	749	5.93e-3	SMART
ANK	753	782	4.46e-7	SMART
ANK	786	815	2.81e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205801

Predicted Effect

probably benign
Transcript: ENSMUST00000206157

Predicted Effect

probably benign
Transcript: ENSMUST00000206472

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,324,351	L242P	probably damaging	Het
Adam22	T	C	5: 8,167,379	I139V	probably benign	Het
Ahr	G	T	12: 35,503,752	Y789*	probably null	Het
Ano1	T	C	7: 144,595,439		probably null	Het
Ap4e1	T	A	2: 127,063,397	M996K	probably benign	Het
Bglap	T	C	3: 88,384,005	K42E	probably benign	Het
Ccdc30	A	T	4: 119,359,582	S220R	probably damaging	Het
Clic5	A	G	17: 44,237,218	N50S	probably benign	Het
Cyp20a1	T	G	1: 60,366,681	D211E	probably damaging	Het
Dctn1	G	A	6: 83,191,284	V408I	possibly damaging	Het
Exoc6	T	C	19: 37,599,572	I551T	probably benign	Het
Fat4	C	T	3: 38,892,019	T1687M	probably damaging	Het
Fat4	T	A	3: 39,009,364	C4490S	probably damaging	Het
Fras1	T	A	5: 96,667,477	I1351N	probably damaging	Het
Gm10031	A	T	1: 156,525,222	Q331L	probably benign	Het
Igkv2-116	T	C	6: 68,152,343		noncoding transcript	Het
Iws1	T	G	18: 32,088,248		probably benign	Het
Mlh1	A	T	9: 111,268,243	I61N	probably damaging	Het
Mtmr7	C	T	8: 40,608,929	V38M	probably damaging	Het
Myh7	G	T	14: 54,975,361	A1409D	probably damaging	Het
Myt1	A	T	2: 181,797,845	I387F	probably damaging	Het
Nars2	A	G	7: 97,040,013	N381D	possibly damaging	Het
Nsd3	T	C	8: 25,675,749		probably benign	Het
Nup107	A	G	10: 117,782,028	S162P	probably damaging	Het
Olfr904	A	G	9: 38,464,221	Y60C	probably damaging	Het
Oog2	T	C	4: 144,194,006	F3S	probably benign	Het
Oxgr1	T	C	14: 120,022,610	M62V	possibly damaging	Het
Pcgf1	A	G	6: 83,079,140	Y75C	probably damaging	Het
Ppp3cc	C	A	14: 70,225,028	E396*	probably null	Het
Ptx4	T	A	17: 25,124,675	C300S	probably damaging	Het
Rassf4	C	T	6: 116,641,747	V192I	probably damaging	Het
Rundc3b	T	C	5: 8,548,261	T203A	possibly damaging	Het
Serpinb3c	T	C	1: 107,271,873	D306G	probably benign	Het
Sipa1l2	T	C	8: 125,491,659	E313G	possibly damaging	Het
Snx5	G	A	2: 144,253,754	A329V	probably damaging	Het
Stx1b	T	C	7: 127,807,884	D213G	probably damaging	Het
Tpd52l2	G	A	2: 181,515,086	V172I	probably benign	Het
Trim50	A	T	5: 135,363,953	I241F	probably damaging	Het
Ttn	G	A	2: 76,750,416	H23378Y	probably benign	Het
Vmn1r193	T	A	13: 22,219,769	M18L	probably benign	Het
Vmn1r226	A	G	17: 20,688,184	N226S	probably benign	Het
Vmn2r14	T	A	5: 109,219,836	Q430L	probably null	Het
Xirp2	T	A	2: 67,515,194	V2593D	probably damaging	Het
Zfp169	A	T	13: 48,489,924	F576I	possibly damaging	Het
Zfp667	T	C	7: 6,289,439		probably null	Het
Zzef1	A	G	11: 72,886,775		probably null	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35614456	missense	probably damaging	0.99
IGL02205:Ankrd27	APN	7	35616939	missense	probably damaging	1.00
IGL02372:Ankrd27	APN	7	35633036	splice site	probably null
IGL02629:Ankrd27	APN	7	35625696	missense	probably benign	0.00
deep_blue	UTSW	7	35608455	missense	probably benign	0.01
Rapture	UTSW	7	35602584	critical splice donor site	probably null
R0008:Ankrd27	UTSW	7	35603700	missense	probably benign	0.11
R0008:Ankrd27	UTSW	7	35603700	missense	probably benign	0.11
R0233:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R0233:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35619439	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35619439	missense	probably damaging	1.00
R0281:Ankrd27	UTSW	7	35619371	missense	probably damaging	0.98
R0373:Ankrd27	UTSW	7	35638053	missense	probably benign	0.00
R0833:Ankrd27	UTSW	7	35608347	missense	probably damaging	1.00
R0836:Ankrd27	UTSW	7	35608347	missense	probably damaging	1.00
R1191:Ankrd27	UTSW	7	35602487	missense	probably damaging	0.96
R1394:Ankrd27	UTSW	7	35615869	missense	possibly damaging	0.80
R1395:Ankrd27	UTSW	7	35615869	missense	possibly damaging	0.80
R1493:Ankrd27	UTSW	7	35608365	missense	probably benign	0.11
R1648:Ankrd27	UTSW	7	35603853	missense	probably benign	0.00
R1664:Ankrd27	UTSW	7	35607126	missense	probably damaging	1.00
R1698:Ankrd27	UTSW	7	35614521	missense	probably benign	0.01
R1717:Ankrd27	UTSW	7	35628446	missense	possibly damaging	0.87
R1919:Ankrd27	UTSW	7	35632985	missense	probably benign
R1956:Ankrd27	UTSW	7	35603839	missense	probably damaging	1.00
R2276:Ankrd27	UTSW	7	35615840	unclassified	probably benign
R3000:Ankrd27	UTSW	7	35608330	missense	probably damaging	1.00
R4604:Ankrd27	UTSW	7	35628490	missense	probably damaging	1.00
R4647:Ankrd27	UTSW	7	35638234	missense	probably benign
R4838:Ankrd27	UTSW	7	35591806	missense	possibly damaging	0.87
R4896:Ankrd27	UTSW	7	35608375	missense	probably damaging	1.00
R4973:Ankrd27	UTSW	7	35632992	missense	probably benign
R5004:Ankrd27	UTSW	7	35608375	missense	probably damaging	1.00
R5069:Ankrd27	UTSW	7	35628435	missense	probably damaging	0.98
R5182:Ankrd27	UTSW	7	35628487	missense	probably damaging	1.00
R5330:Ankrd27	UTSW	7	35615926	nonsense	probably null
R5458:Ankrd27	UTSW	7	35591811	missense	probably damaging	1.00
R6293:Ankrd27	UTSW	7	35608460	missense	possibly damaging	0.65
R6341:Ankrd27	UTSW	7	35627403	critical splice acceptor site	probably null
R6721:Ankrd27	UTSW	7	35612551	missense	probably damaging	1.00
R6860:Ankrd27	UTSW	7	35628527	missense	possibly damaging	0.62
R7027:Ankrd27	UTSW	7	35612526	missense	probably benign	0.00
R7177:Ankrd27	UTSW	7	35619397	missense	probably damaging	1.00
R7231:Ankrd27	UTSW	7	35628446	missense	possibly damaging	0.87
R7289:Ankrd27	UTSW	7	35631249	missense	probably damaging	1.00
R7933:Ankrd27	UTSW	7	35601649	splice site	probably benign
R8011:Ankrd27	UTSW	7	35616881	missense	probably benign	0.01
R8198:Ankrd27	UTSW	7	35608455	missense	probably benign	0.01
R8214:Ankrd27	UTSW	7	35614519	missense	probably damaging	1.00
R8327:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R8461:Ankrd27	UTSW	7	35627486	missense	probably damaging	1.00
R8508:Ankrd27	UTSW	7	35601626	nonsense	probably null
R8676:Ankrd27	UTSW	7	35602584	critical splice donor site	probably null
R8901:Ankrd27	UTSW	7	35632818	intron	probably benign
R9276:Ankrd27	UTSW	7	35620570	missense	probably benign	0.01
R9286:Ankrd27	UTSW	7	35627444	missense	probably benign	0.05
R9400:Ankrd27	UTSW	7	35616857	missense	probably damaging	1.00
Z1177:Ankrd27	UTSW	7	35603878	missense	possibly damaging	0.84

Posted On

2016-08-02