Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02205:Ankrd27'

284429

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 #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35616939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 543 (D543E)

Ref Sequence

ENSEMBL: ENSMUSP00000140259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000190503] [ENSMUST00000206472] [ENSMUST00000206632]

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: D543E

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

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: D543E

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

noncoding transcript
Transcript: ENSMUST00000187567

Predicted Effect

probably damaging
Transcript: ENSMUST00000187807
AA Change: D36E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190503
AA Change: D543E

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

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: D543E

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

probably benign
Transcript: ENSMUST00000206472

Predicted Effect

probably benign
Transcript: ENSMUST00000206632

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,835,156	L150R	probably damaging	Het
Anks1b	T	G	10: 90,071,094	L258V	probably benign	Het
Cacna1i	T	C	15: 80,372,951	F1087S	probably benign	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Cmip	G	A	8: 117,454,975	V674I	probably damaging	Het
Col4a2	C	T	8: 11,431,305	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,393,834	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,349,358	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,352,257	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,537,341	M232T	probably benign	Het
Gm5414	A	G	15: 101,625,869	F267L	probably benign	Het
Heatr5a	A	G	12: 51,877,337	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,400,127	V2324G	probably damaging	Het
Hnmt	A	T	2: 24,019,145	N85K	probably damaging	Het
Kcng4	G	T	8: 119,626,083	R363S	probably damaging	Het
Kif18a	T	C	2: 109,307,018		probably benign	Het
Lrrc8b	A	T	5: 105,481,837	Y683F	probably benign	Het
Mepce	G	T	5: 137,784,495	T523K	probably benign	Het
Mroh1	T	C	15: 76,437,239	V1040A	possibly damaging	Het
Myof	A	G	19: 37,924,635	Y1470H	probably damaging	Het
Olfr469	A	G	7: 107,822,591	Y293H	probably damaging	Het
Otol1	T	C	3: 70,018,596	S35P	probably benign	Het
P4htm	T	C	9: 108,581,962	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,473,957	T81A	probably damaging	Het
Polg2	T	C	11: 106,779,120	E108G	probably benign	Het
Rfx7	T	A	9: 72,607,650	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,283,737	V611A	probably benign	Het
Slc10a7	G	T	8: 78,697,303	K203N	probably benign	Het
Slc12a5	T	A	2: 164,996,479	V1046D	probably benign	Het
Tacc2	A	T	7: 130,626,682	D1718V	probably damaging	Het
Unc79	T	A	12: 103,079,001	I812N	probably damaging	Het
Vps13c	A	G	9: 67,883,454	Y338C	probably damaging	Het
Wdr17	T	C	8: 54,696,300	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,785,966	N624K	probably damaging	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35614456	missense	probably damaging	0.99
IGL02372:Ankrd27	APN	7	35633036	splice site	probably null
IGL02629:Ankrd27	APN	7	35625696	missense	probably benign	0.00
IGL03394:Ankrd27	APN	7	35607098	splice site	probably null
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

2015-04-16