Mutagenetix > Incidental Mutation

Incidental Mutation 'R0891:Ankrd36'

83507

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

GC3, 1700012M14Rik, 1700008J08Rik

MMRRC Submission

039054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5637316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1295 (E1295G)

Ref Sequence

ENSEMBL: ENSMUSP00000105482 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: E1295G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: E1295G

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

Meta Mutation Damage Score

0.1155

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 96.7%
20x: 92.2%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,156 (GRCm39)	N567K	possibly damaging	Het
Afap1	G	A	5: 36,119,196 (GRCm39)		probably null	Het
Angel2	G	T	1: 190,677,270 (GRCm39)	K517N	possibly damaging	Het
Ankrd45	A	G	1: 160,982,906 (GRCm39)	N139S	possibly damaging	Het
Ano3	T	C	2: 110,528,321 (GRCm39)	T498A	probably benign	Het
Arhgap12	T	C	18: 6,026,699 (GRCm39)	T720A	probably damaging	Het
Brd10	G	A	19: 29,695,053 (GRCm39)	T1547I	probably damaging	Het
Brsk1	A	G	7: 4,707,226 (GRCm39)	S260G	possibly damaging	Het
Calml3	A	G	13: 3,853,926 (GRCm39)	F93S	probably damaging	Het
Ccnf	G	T	17: 24,445,751 (GRCm39)	H498Q	possibly damaging	Het
Col27a1	A	C	4: 63,223,420 (GRCm39)		probably null	Het
Cpne5	A	G	17: 29,421,893 (GRCm39)		probably benign	Het
Dcst1	G	A	3: 89,260,584 (GRCm39)	T560I	probably benign	Het
Fndc7	A	G	3: 108,777,904 (GRCm39)	Y351H	possibly damaging	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Kcnh8	A	T	17: 53,212,242 (GRCm39)	D680V	probably damaging	Het
Kmt2d	A	G	15: 98,750,572 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 90,996,337 (GRCm39)	I50N	probably damaging	Het
Mbip	A	T	12: 56,387,242 (GRCm39)	D132E	possibly damaging	Het
Nipal3	A	T	4: 135,195,898 (GRCm39)	I235N	possibly damaging	Het
Nup93	T	A	8: 95,007,891 (GRCm39)		probably benign	Het
Or6b13	A	G	7: 139,782,372 (GRCm39)	Y104H	probably damaging	Het
Or6z6	T	A	7: 6,491,471 (GRCm39)	Y134F	probably damaging	Het
Pgbd1	T	C	13: 21,606,970 (GRCm39)	Y408C	probably damaging	Het
Pigo	G	A	4: 43,020,519 (GRCm39)	Q808*	probably null	Het
Pik3r1	A	T	13: 101,837,974 (GRCm39)	N299K	probably benign	Het
Pip5k1a	A	G	3: 94,972,831 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,585,442 (GRCm39)	H156L	possibly damaging	Het
Septin5	G	C	16: 18,443,595 (GRCm39)	T118R	probably damaging	Het
Smarcal1	T	C	1: 72,638,015 (GRCm39)	V483A	probably damaging	Het
Togaram1	A	G	12: 65,029,421 (GRCm39)	D948G	probably benign	Het
Vmn2r75	A	T	7: 85,813,476 (GRCm39)	V442E	possibly damaging	Het
Zfp57	A	G	17: 37,317,068 (GRCm39)	K46E	probably damaging	Het

Other mutations in Ankrd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ankrd36	APN	11	5,570,131 (GRCm39)	missense	probably benign	0.01
IGL01361:Ankrd36	APN	11	5,546,706 (GRCm39)	splice site	probably benign
IGL01370:Ankrd36	APN	11	5,534,019 (GRCm39)	missense	probably benign	0.06
IGL01384:Ankrd36	APN	11	5,578,348 (GRCm39)	missense	probably benign	0.33
IGL01484:Ankrd36	APN	11	5,579,006 (GRCm39)	missense	possibly damaging	0.90
IGL01524:Ankrd36	APN	11	5,585,092 (GRCm39)	missense	probably benign
IGL01700:Ankrd36	APN	11	5,582,198 (GRCm39)	missense	probably benign	0.05
IGL02322:Ankrd36	APN	11	5,564,619 (GRCm39)	missense	possibly damaging	0.86
IGL02511:Ankrd36	APN	11	5,610,845 (GRCm39)	splice site	probably null
IGL02824:Ankrd36	APN	11	5,524,246 (GRCm39)	missense	possibly damaging	0.67
IGL03204:Ankrd36	APN	11	5,534,023 (GRCm39)	missense	possibly damaging	0.70
PIT4508001:Ankrd36	UTSW	11	5,557,137 (GRCm39)	missense	possibly damaging	0.53
R0058:Ankrd36	UTSW	11	5,580,691 (GRCm39)	splice site	probably benign
R0058:Ankrd36	UTSW	11	5,580,691 (GRCm39)	splice site	probably benign
R0304:Ankrd36	UTSW	11	5,578,981 (GRCm39)	missense	possibly damaging	0.55
R0504:Ankrd36	UTSW	11	5,579,274 (GRCm39)	missense	probably damaging	0.99
R0550:Ankrd36	UTSW	11	5,557,429 (GRCm39)	critical splice donor site	probably null
R0563:Ankrd36	UTSW	11	5,579,322 (GRCm39)	missense	probably benign	0.33
R1018:Ankrd36	UTSW	11	5,596,876 (GRCm39)	unclassified	probably benign
R1468:Ankrd36	UTSW	11	5,525,752 (GRCm39)	missense	probably damaging	0.99
R1468:Ankrd36	UTSW	11	5,525,752 (GRCm39)	missense	probably damaging	0.99
R1558:Ankrd36	UTSW	11	5,585,329 (GRCm39)	missense	probably damaging	0.99
R1663:Ankrd36	UTSW	11	5,570,126 (GRCm39)	missense	possibly damaging	0.70
R1682:Ankrd36	UTSW	11	5,557,143 (GRCm39)	missense	possibly damaging	0.84
R1898:Ankrd36	UTSW	11	5,525,683 (GRCm39)	missense	probably benign	0.33
R2019:Ankrd36	UTSW	11	5,639,140 (GRCm39)	missense	probably benign
R2032:Ankrd36	UTSW	11	5,578,616 (GRCm39)	missense	possibly damaging	0.86
R2084:Ankrd36	UTSW	11	5,612,378 (GRCm39)	nonsense	probably null
R4097:Ankrd36	UTSW	11	5,578,703 (GRCm39)	missense	possibly damaging	0.85
R4572:Ankrd36	UTSW	11	5,639,340 (GRCm39)	splice site	probably null
R4601:Ankrd36	UTSW	11	5,520,102 (GRCm39)	missense	probably benign	0.04
R4770:Ankrd36	UTSW	11	5,540,870 (GRCm39)	missense	possibly damaging	0.73
R4777:Ankrd36	UTSW	11	5,557,120 (GRCm39)	missense	probably benign
R4894:Ankrd36	UTSW	11	5,585,332 (GRCm39)	missense	probably damaging	0.98
R5288:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R5366:Ankrd36	UTSW	11	5,542,841 (GRCm39)	nonsense	probably null
R5384:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R5385:Ankrd36	UTSW	11	5,639,340 (GRCm39)	unclassified	probably benign
R6109:Ankrd36	UTSW	11	5,578,941 (GRCm39)	missense	probably damaging	0.98
R6155:Ankrd36	UTSW	11	5,637,442 (GRCm39)	missense	probably benign	0.00
R6186:Ankrd36	UTSW	11	5,593,812 (GRCm39)	missense	possibly damaging	0.81
R6289:Ankrd36	UTSW	11	5,578,837 (GRCm39)	missense	probably damaging	0.96
R6476:Ankrd36	UTSW	11	5,578,753 (GRCm39)	missense	probably benign	0.05
R6816:Ankrd36	UTSW	11	5,593,765 (GRCm39)	missense	possibly damaging	0.66
R6880:Ankrd36	UTSW	11	5,578,748 (GRCm39)	missense	probably damaging	0.99
R6919:Ankrd36	UTSW	11	5,579,299 (GRCm39)	missense	probably benign
R7007:Ankrd36	UTSW	11	5,639,168 (GRCm39)	missense	probably benign	0.00
R7515:Ankrd36	UTSW	11	5,578,905 (GRCm39)	missense	possibly damaging	0.94
R7617:Ankrd36	UTSW	11	5,637,348 (GRCm39)	missense	probably benign	0.33
R7684:Ankrd36	UTSW	11	5,520,113 (GRCm39)	missense	possibly damaging	0.49
R7746:Ankrd36	UTSW	11	5,637,451 (GRCm39)	missense	possibly damaging	0.96
R7783:Ankrd36	UTSW	11	5,585,359 (GRCm39)	missense	probably damaging	0.99
R7790:Ankrd36	UTSW	11	5,585,176 (GRCm39)	missense	possibly damaging	0.80
R8221:Ankrd36	UTSW	11	5,534,016 (GRCm39)	missense	possibly damaging	0.53
R8671:Ankrd36	UTSW	11	5,579,312 (GRCm39)	missense	probably benign	0.05
R8732:Ankrd36	UTSW	11	5,578,906 (GRCm39)	missense	possibly damaging	0.90
R8768:Ankrd36	UTSW	11	5,593,763 (GRCm39)	missense	probably benign	0.00
R9026:Ankrd36	UTSW	11	5,610,696 (GRCm39)	missense	probably benign
R9093:Ankrd36	UTSW	11	5,589,132 (GRCm39)	missense	probably benign
R9211:Ankrd36	UTSW	11	5,612,370 (GRCm39)	missense	possibly damaging	0.85
R9300:Ankrd36	UTSW	11	5,519,979 (GRCm39)	missense	possibly damaging	0.84
R9644:Ankrd36	UTSW	11	5,593,835 (GRCm39)	missense	possibly damaging	0.90
RF004:Ankrd36	UTSW	11	5,612,411 (GRCm39)	missense	possibly damaging	0.53
U24488:Ankrd36	UTSW	11	5,580,772 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankrd36	UTSW	11	5,565,538 (GRCm39)	missense	probably benign
Z1177:Ankrd36	UTSW	11	5,593,738 (GRCm39)	missense	probably damaging	0.96
Z1177:Ankrd36	UTSW	11	5,579,345 (GRCm39)	missense	probably benign	0.01
Z1177:Ankrd36	UTSW	11	5,521,117 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCCGTTCAGGTGTAAGTGTGCAAAG -3'
(R):5'- ACGGATGTAACCCACATTGCCAG -3'

Sequencing Primer
(F):5'- CAGAATTGTGACATTCCTGCTG -3'
(R):5'- TGAATTAAAACCTGTCACGGACTC -3'

Posted On

2013-11-08