Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02372:Ankrd27'

290968

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 #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

35285669-35338651 bp(+) (GRCm39)

Type of Mutation

splice site (4587 bp from exon)

DNA Base Change (assembly)

A to G at 35332461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: I918V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: I918V

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: ENSMUST00000187807

Predicted Effect

probably damaging
Transcript: ENSMUST00000190503
AA Change: I863V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: I863V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	A	G	11: 120,485,701 (GRCm39)		probably benign	Het
Arc	A	G	15: 74,543,954 (GRCm39)	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,778,084 (GRCm39)	K150N	probably benign	Het
Atrn	T	C	2: 130,844,674 (GRCm39)		probably benign	Het
Ccnb1	A	G	13: 100,917,824 (GRCm39)	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,814,108 (GRCm39)	V1938A	probably benign	Het
Ckmt2	A	G	13: 92,013,343 (GRCm39)	V37A	probably benign	Het
Dpys	G	T	15: 39,656,667 (GRCm39)	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,760,862 (GRCm39)	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,179,986 (GRCm39)	L302P	probably benign	Het
Faf1	T	G	4: 109,792,779 (GRCm39)	F584V	probably benign	Het
Glb1l2	G	A	9: 26,707,772 (GRCm39)	R72C	probably damaging	Het
Gm9892	T	C	8: 52,649,871 (GRCm39)		noncoding transcript	Het
Hecw1	G	T	13: 14,438,706 (GRCm39)	D892E	probably damaging	Het
Hr	A	G	14: 70,795,790 (GRCm39)	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,559,401 (GRCm39)	F297V	probably damaging	Het
Myc	A	G	15: 61,859,707 (GRCm39)	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613 (GRCm39)	N671K	probably benign	Het
Nup210l	C	A	3: 90,109,278 (GRCm39)	T1607N	possibly damaging	Het
Or8s8	A	T	15: 98,354,709 (GRCm39)	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,974,370 (GRCm39)	K22*	probably null	Het
Phf20l1	T	C	15: 66,513,650 (GRCm39)	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,186,537 (GRCm39)	R40W	probably damaging	Het
Pomt2	C	T	12: 87,169,609 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,847,298 (GRCm39)		probably benign	Het
Sbk1	T	C	7: 125,890,230 (GRCm39)	L81P	probably damaging	Het
Scrib	G	A	15: 75,920,104 (GRCm39)	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,683,611 (GRCm39)	N240K	probably benign	Het
Smyd4	A	T	11: 75,281,111 (GRCm39)	K195*	probably null	Het
Spmap1	A	T	11: 97,666,525 (GRCm39)	Y54N	probably damaging	Het
Tulp3	A	T	6: 128,304,561 (GRCm39)	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,668,739 (GRCm39)		probably benign	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
IGL02205:Ankrd27	APN	7	35,316,364 (GRCm39)	missense	probably damaging	1.00
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