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

Synonyms

Varp, D330003H11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

35285669-35338651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35316364 bp (GRCm39)

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: 117,725,982 (GRCm39)	L150R	probably damaging	Het
Anks1b	T	G	10: 89,906,956 (GRCm39)	L258V	probably benign	Het
Cacna1i	T	C	15: 80,257,152 (GRCm39)	F1087S	probably benign	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Cmip	G	A	8: 118,181,714 (GRCm39)	V674I	probably damaging	Het
Col4a2	C	T	8: 11,481,305 (GRCm39)	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,432,993 (GRCm39)	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,179,702 (GRCm39)	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,182,601 (GRCm39)	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,421,541 (GRCm39)	M232T	probably benign	Het
Gm5414	A	G	15: 101,534,304 (GRCm39)	F267L	probably benign	Het
Heatr5a	A	G	12: 51,924,120 (GRCm39)	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,290,139 (GRCm39)	V2324G	probably damaging	Het
Hnmt	A	T	2: 23,909,157 (GRCm39)	N85K	probably damaging	Het
Kcng4	G	T	8: 120,352,822 (GRCm39)	R363S	probably damaging	Het
Kif18a	T	C	2: 109,137,363 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,629,703 (GRCm39)	Y683F	probably benign	Het
Mepce	G	T	5: 137,782,757 (GRCm39)	T523K	probably benign	Het
Mroh1	T	C	15: 76,321,439 (GRCm39)	V1040A	possibly damaging	Het
Myof	A	G	19: 37,913,083 (GRCm39)	Y1470H	probably damaging	Het
Or5p50	A	G	7: 107,421,798 (GRCm39)	Y293H	probably damaging	Het
Otol1	T	C	3: 69,925,929 (GRCm39)	S35P	probably benign	Het
P4htm	T	C	9: 108,459,161 (GRCm39)	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,607,010 (GRCm39)	T81A	probably damaging	Het
Polg2	T	C	11: 106,669,946 (GRCm39)	E108G	probably benign	Het
Rfx7	T	A	9: 72,514,932 (GRCm39)	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,333,765 (GRCm39)	V611A	probably benign	Het
Slc10a7	G	T	8: 79,423,932 (GRCm39)	K203N	probably benign	Het
Slc12a5	T	A	2: 164,838,399 (GRCm39)	V1046D	probably benign	Het
Tacc2	A	T	7: 130,228,412 (GRCm39)	D1718V	probably damaging	Het
Unc79	T	A	12: 103,045,260 (GRCm39)	I812N	probably damaging	Het
Vps13c	A	G	9: 67,790,736 (GRCm39)	Y338C	probably damaging	Het
Wdr17	T	C	8: 55,149,335 (GRCm39)	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,606,329 (GRCm39)	N624K	probably damaging	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35,313,881 (GRCm39)	missense	probably damaging	0.99
IGL02372:Ankrd27	APN	7	35,332,461 (GRCm39)	splice site	probably null
IGL02629:Ankrd27	APN	7	35,325,121 (GRCm39)	missense	probably benign	0.00
IGL03394:Ankrd27	APN	7	35,306,523 (GRCm39)	splice site	probably null
deep_blue	UTSW	7	35,307,880 (GRCm39)	missense	probably benign	0.01
Rapture	UTSW	7	35,302,009 (GRCm39)	critical splice donor site	probably null
R0008:Ankrd27	UTSW	7	35,303,125 (GRCm39)	missense	probably benign	0.11
R0008:Ankrd27	UTSW	7	35,303,125 (GRCm39)	missense	probably benign	0.11
R0233:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R0233:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,318,864 (GRCm39)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,318,864 (GRCm39)	missense	probably damaging	1.00
R0281:Ankrd27	UTSW	7	35,318,796 (GRCm39)	missense	probably damaging	0.98
R0373:Ankrd27	UTSW	7	35,337,478 (GRCm39)	missense	probably benign	0.00
R0833:Ankrd27	UTSW	7	35,307,772 (GRCm39)	missense	probably damaging	1.00
R0836:Ankrd27	UTSW	7	35,307,772 (GRCm39)	missense	probably damaging	1.00
R1191:Ankrd27	UTSW	7	35,301,912 (GRCm39)	missense	probably damaging	0.96
R1394:Ankrd27	UTSW	7	35,315,294 (GRCm39)	missense	possibly damaging	0.80
R1395:Ankrd27	UTSW	7	35,315,294 (GRCm39)	missense	possibly damaging	0.80
R1493:Ankrd27	UTSW	7	35,307,790 (GRCm39)	missense	probably benign	0.11
R1648:Ankrd27	UTSW	7	35,303,278 (GRCm39)	missense	probably benign	0.00
R1664:Ankrd27	UTSW	7	35,306,551 (GRCm39)	missense	probably damaging	1.00
R1698:Ankrd27	UTSW	7	35,313,946 (GRCm39)	missense	probably benign	0.01
R1717:Ankrd27	UTSW	7	35,327,871 (GRCm39)	missense	possibly damaging	0.87
R1919:Ankrd27	UTSW	7	35,332,410 (GRCm39)	missense	probably benign
R1956:Ankrd27	UTSW	7	35,303,264 (GRCm39)	missense	probably damaging	1.00
R2276:Ankrd27	UTSW	7	35,315,265 (GRCm39)	unclassified	probably benign
R3000:Ankrd27	UTSW	7	35,307,755 (GRCm39)	missense	probably damaging	1.00
R4604:Ankrd27	UTSW	7	35,327,915 (GRCm39)	missense	probably damaging	1.00
R4647:Ankrd27	UTSW	7	35,337,659 (GRCm39)	missense	probably benign
R4838:Ankrd27	UTSW	7	35,291,231 (GRCm39)	missense	possibly damaging	0.87
R4896:Ankrd27	UTSW	7	35,307,800 (GRCm39)	missense	probably damaging	1.00
R4973:Ankrd27	UTSW	7	35,332,417 (GRCm39)	missense	probably benign
R5004:Ankrd27	UTSW	7	35,307,800 (GRCm39)	missense	probably damaging	1.00
R5069:Ankrd27	UTSW	7	35,327,860 (GRCm39)	missense	probably damaging	0.98
R5182:Ankrd27	UTSW	7	35,327,912 (GRCm39)	missense	probably damaging	1.00
R5330:Ankrd27	UTSW	7	35,315,351 (GRCm39)	nonsense	probably null
R5458:Ankrd27	UTSW	7	35,291,236 (GRCm39)	missense	probably damaging	1.00
R6293:Ankrd27	UTSW	7	35,307,885 (GRCm39)	missense	possibly damaging	0.65
R6341:Ankrd27	UTSW	7	35,326,828 (GRCm39)	critical splice acceptor site	probably null
R6721:Ankrd27	UTSW	7	35,311,976 (GRCm39)	missense	probably damaging	1.00
R6860:Ankrd27	UTSW	7	35,327,952 (GRCm39)	missense	possibly damaging	0.62
R7027:Ankrd27	UTSW	7	35,311,951 (GRCm39)	missense	probably benign	0.00
R7177:Ankrd27	UTSW	7	35,318,822 (GRCm39)	missense	probably damaging	1.00
R7231:Ankrd27	UTSW	7	35,327,871 (GRCm39)	missense	possibly damaging	0.87
R7289:Ankrd27	UTSW	7	35,330,674 (GRCm39)	missense	probably damaging	1.00
R7933:Ankrd27	UTSW	7	35,301,074 (GRCm39)	splice site	probably benign
R8011:Ankrd27	UTSW	7	35,316,306 (GRCm39)	missense	probably benign	0.01
R8198:Ankrd27	UTSW	7	35,307,880 (GRCm39)	missense	probably benign	0.01
R8214:Ankrd27	UTSW	7	35,313,944 (GRCm39)	missense	probably damaging	1.00
R8327:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R8461:Ankrd27	UTSW	7	35,326,911 (GRCm39)	missense	probably damaging	1.00
R8508:Ankrd27	UTSW	7	35,301,051 (GRCm39)	nonsense	probably null
R8676:Ankrd27	UTSW	7	35,302,009 (GRCm39)	critical splice donor site	probably null
R8901:Ankrd27	UTSW	7	35,332,243 (GRCm39)	intron	probably benign
R9276:Ankrd27	UTSW	7	35,319,995 (GRCm39)	missense	probably benign	0.01
R9286:Ankrd27	UTSW	7	35,326,869 (GRCm39)	missense	probably benign	0.05
R9400:Ankrd27	UTSW	7	35,316,282 (GRCm39)	missense	probably damaging	1.00
R9624:Ankrd27	UTSW	7	35,301,891 (GRCm39)	missense	possibly damaging	0.88
R9786:Ankrd27	UTSW	7	35,291,294 (GRCm39)	missense	possibly damaging	0.79
Z1177:Ankrd27	UTSW	7	35,303,303 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16