Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Ankrd36'

1201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5620131 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 533 (Y533S)

Ref Sequence

ENSEMBL: ENSMUSP00000122397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112]

Predicted Effect

probably benign
Transcript: ENSMUST00000109856
AA Change: Y501S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: Y501S

Domain	Start	End	E-Value	Type
Blast:ANK	29	62	3e-12	BLAST
ANK	66	95	4.5e-3	SMART
ANK	99	128	1.44e-1	SMART
ANK	132	161	4.6e0	SMART
ANK	165	194	2.48e-5	SMART
ANK	198	227	4.67e-1	SMART
internal_repeat_1	449	555	1.04e-5	PROSPERO
internal_repeat_1	891	981	1.04e-5	PROSPERO
low complexity region	1105	1118	N/A	INTRINSIC
coiled coil region	1268	1297	N/A	INTRINSIC
coiled coil region	1318	1338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118112
AA Change: Y533S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: Y533S

Domain	Start	End	E-Value	Type
Blast:ANK	29	62	3e-12	BLAST
ANK	66	95	2.9e-5	SMART
ANK	99	128	9.4e-4	SMART
ANK	132	161	2.9e-2	SMART
ANK	165	194	1.5e-7	SMART
ANK	198	227	2.9e-3	SMART
internal_repeat_1	255	352	8.15e-5	PROSPERO
internal_repeat_1	438	538	8.15e-5	PROSPERO
low complexity region	1138	1151	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Ankrd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Ankrd36	APN	11	5596706	splice site	probably benign
IGL01370:Ankrd36	APN	11	5584019	missense	probably benign	0.06
IGL01384:Ankrd36	APN	11	5628348	missense	probably benign	0.33
IGL01484:Ankrd36	APN	11	5629006	missense	possibly damaging	0.90
IGL01524:Ankrd36	APN	11	5635092	missense	probably benign
IGL01700:Ankrd36	APN	11	5632198	missense	probably benign	0.05
IGL02322:Ankrd36	APN	11	5614619	missense	possibly damaging	0.86
IGL02511:Ankrd36	APN	11	5660845	unclassified	probably null
IGL02824:Ankrd36	APN	11	5574246	missense	possibly damaging	0.67
IGL03204:Ankrd36	APN	11	5584023	missense	possibly damaging	0.70
PIT4508001:Ankrd36	UTSW	11	5607137	missense	possibly damaging	0.53
R0058:Ankrd36	UTSW	11	5630691	splice site	probably benign
R0058:Ankrd36	UTSW	11	5630691	splice site	probably benign
R0304:Ankrd36	UTSW	11	5628981	missense	possibly damaging	0.55
R0504:Ankrd36	UTSW	11	5629274	missense	probably damaging	0.99
R0550:Ankrd36	UTSW	11	5607429	critical splice donor site	probably null
R0563:Ankrd36	UTSW	11	5629322	missense	probably benign	0.33
R0891:Ankrd36	UTSW	11	5687316	missense	possibly damaging	0.72
R1018:Ankrd36	UTSW	11	5646876	unclassified	probably benign
R1468:Ankrd36	UTSW	11	5575752	missense	probably damaging	0.99
R1468:Ankrd36	UTSW	11	5575752	missense	probably damaging	0.99
R1558:Ankrd36	UTSW	11	5635329	missense	probably damaging	0.99
R1663:Ankrd36	UTSW	11	5620126	missense	possibly damaging	0.70
R1682:Ankrd36	UTSW	11	5607143	missense	possibly damaging	0.84
R1898:Ankrd36	UTSW	11	5575683	missense	probably benign	0.33
R2019:Ankrd36	UTSW	11	5689140	missense	probably benign
R2032:Ankrd36	UTSW	11	5628616	missense	possibly damaging	0.86
R2084:Ankrd36	UTSW	11	5662378	nonsense	probably null
R4097:Ankrd36	UTSW	11	5628703	missense	possibly damaging	0.85
R4572:Ankrd36	UTSW	11	5689340	unclassified	probably null
R4601:Ankrd36	UTSW	11	5570102	missense	probably benign	0.04
R4770:Ankrd36	UTSW	11	5590870	missense	possibly damaging	0.73
R4777:Ankrd36	UTSW	11	5607120	missense	probably benign
R4894:Ankrd36	UTSW	11	5635332	missense	probably damaging	0.98
R5288:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R5366:Ankrd36	UTSW	11	5592841	nonsense	probably null
R5384:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R5385:Ankrd36	UTSW	11	5689340	unclassified	probably benign
R6109:Ankrd36	UTSW	11	5628941	missense	probably damaging	0.98
R6155:Ankrd36	UTSW	11	5687442	missense	probably benign	0.00
R6186:Ankrd36	UTSW	11	5643812	missense	possibly damaging	0.81
R6289:Ankrd36	UTSW	11	5628837	missense	probably damaging	0.96
R6476:Ankrd36	UTSW	11	5628753	missense	probably benign	0.05
R6816:Ankrd36	UTSW	11	5643765	missense	possibly damaging	0.66
R6880:Ankrd36	UTSW	11	5628748	missense	probably damaging	0.99
R6919:Ankrd36	UTSW	11	5629299	missense	probably benign
R7007:Ankrd36	UTSW	11	5689168	missense	probably benign	0.00
R7515:Ankrd36	UTSW	11	5628905	missense	possibly damaging	0.94
U24488:Ankrd36	UTSW	11	5630772	missense	probably damaging	0.99

Posted On

2011-07-12