Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Ankrd36'

367426

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5590870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 312 (C312F)

Ref Sequence

ENSEMBL: ENSMUSP00000122397 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

probably benign
Transcript: ENSMUST00000109856

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481

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

possibly damaging
Transcript: ENSMUST00000118112
AA Change: C312F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: C312F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,071,515	V503A	possibly damaging	Het
Agps	T	A	2: 75,891,855	F463Y	possibly damaging	Het
Amigo3	A	T	9: 108,053,535	L52F	probably damaging	Het
Anapc1	T	C	2: 128,686,060		probably benign	Het
Asic2	A	C	11: 80,971,492	D226E	probably benign	Het
Atp8b2	T	A	3: 89,957,067	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,443,435	Y495C	probably damaging	Het
Ccdc51	A	G	9: 109,090,910	T125A	probably benign	Het
Ccser1	A	G	6: 61,311,501	Y216C	possibly damaging	Het
Cntfr	A	T	4: 41,663,282	I175N	possibly damaging	Het
Cox10	G	A	11: 63,964,163	R431W	probably benign	Het
Cubn	T	C	2: 13,314,767	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,452,573	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,683,789	G125D	probably benign	Het
Dscaml1	C	T	9: 45,670,106	R408C	probably damaging	Het
Duox2	A	T	2: 122,284,916	S1052T	probably benign	Het
Ecm1	A	G	3: 95,737,961		probably benign	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,529,424	M727K	probably benign	Het
Exosc9	T	C	3: 36,553,835	V64A	probably damaging	Het
Ezh2	A	T	6: 47,540,696	I564N	probably damaging	Het
Fam160b2	T	A	14: 70,588,287	D351V	probably damaging	Het
Fam89b	C	A	19: 5,729,454	R25L	probably damaging	Het
Fgr	C	T	4: 132,987,291	T98M	probably damaging	Het
Gapvd1	A	G	2: 34,691,181	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,508,076	I544F	possibly damaging	Het
Gli2	C	A	1: 118,982,588		probably benign	Het
Gm13084	C	T	4: 143,811,949	E151K	probably damaging	Het
Gm9934	A	G	7: 93,052,984		noncoding transcript	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Greb1	A	T	12: 16,681,356	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,243,560	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,148,724	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187	E366G	probably damaging	Het
Itga2b	A	G	11: 102,460,756	F581S	probably damaging	Het
Itsn2	T	A	12: 4,627,892	M83K	probably damaging	Het
Kif27	G	A	13: 58,344,377	T316M	probably damaging	Het
Lad1	A	T	1: 135,825,793	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,452,443	H625L	probably benign	Het
Mast1	A	G	8: 84,929,246	V155A	probably benign	Het
Mast3	G	A	8: 70,786,220	T480M	probably damaging	Het
Mpc1	C	T	17: 8,293,545		probably benign	Het
Mycbp2	T	A	14: 103,219,944	M1606L	probably benign	Het
Myo1c	T	A	11: 75,660,313	L238*	probably null	Het
Nanog	T	G	6: 122,711,591	S44A	possibly damaging	Het
Neb	T	C	2: 52,149,153	Q6958R	probably benign	Het
Ngef	C	T	1: 87,477,561	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,770,645	V265A	probably benign	Het
Nr3c2	A	G	8: 76,908,243		probably null	Het
Odf3b	A	G	15: 89,379,123	I19T	probably damaging	Het
Olfm5	A	G	7: 104,160,478	S164P	probably benign	Het
Parvb	T	C	15: 84,303,905		probably null	Het
Pde4dip	G	T	3: 97,767,084	A172D	probably damaging	Het
Phf2	A	G	13: 48,803,603	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,529,894	V155E	probably damaging	Het
Pinx1	T	G	14: 63,872,371	V124G	probably damaging	Het
Poglut1	A	G	16: 38,534,757	Y236H	probably damaging	Het
Pou4f2	T	A	8: 78,436,401	M2L	unknown	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Prkaca	A	G	8: 83,990,870	N209S	probably benign	Het
Ring1	G	A	17: 34,023,387	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412		probably null	Het
Rnf25	G	A	1: 74,593,940	R418C	probably damaging	Het
Ryr1	G	T	7: 29,109,282	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,078,278	F360S	probably damaging	Het
Setd7	T	C	3: 51,521,422	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,670,949		probably null	Het
Snap91	G	A	9: 86,773,601	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,522,371		noncoding transcript	Het
Son	T	A	16: 91,658,868	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,479,852	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,909,787	D46G	probably damaging	Het
Tmem115	G	A	9: 107,534,957	R160Q	probably benign	Het
Trerf1	G	A	17: 47,319,655		noncoding transcript	Het
Uggt2	A	T	14: 119,029,054		probably null	Het
Ush2a	G	T	1: 188,549,879	V1864F	probably benign	Het
Xkr4	A	T	1: 3,216,491	V492D	probably damaging	Het
Zcchc6	A	G	13: 59,772,884		probably benign	Het
Zfp646	T	A	7: 127,883,477	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,708,358	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,934,417	S176P	probably damaging	Het
Zfp747	C	T	7: 127,375,799	A10T	probably damaging	Het
Zfp850	T	C	7: 27,984,986		probably null	Het

Other mutations in Ankrd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ankrd36	APN	11	5620131	missense	probably benign	0.01
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	splice site	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	splice site	probably null
R4601:Ankrd36	UTSW	11	5570102	missense	probably benign	0.04
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
R7617:Ankrd36	UTSW	11	5687348	missense	probably benign	0.33
R7684:Ankrd36	UTSW	11	5570113	missense	possibly damaging	0.49
R7746:Ankrd36	UTSW	11	5687451	missense	possibly damaging	0.96
R7783:Ankrd36	UTSW	11	5635359	missense	probably damaging	0.99
R7790:Ankrd36	UTSW	11	5635176	missense	possibly damaging	0.80
R8221:Ankrd36	UTSW	11	5584016	missense	possibly damaging	0.53
R8671:Ankrd36	UTSW	11	5629312	missense	probably benign	0.05
R8732:Ankrd36	UTSW	11	5628906	missense	possibly damaging	0.90
R8768:Ankrd36	UTSW	11	5643763	missense	probably benign	0.00
R9026:Ankrd36	UTSW	11	5660696	missense	probably benign
R9093:Ankrd36	UTSW	11	5639132	missense	probably benign
R9211:Ankrd36	UTSW	11	5662370	missense	possibly damaging	0.85
R9300:Ankrd36	UTSW	11	5569979	missense	possibly damaging	0.84
R9644:Ankrd36	UTSW	11	5643835	missense	possibly damaging	0.90
RF004:Ankrd36	UTSW	11	5662411	missense	possibly damaging	0.53
U24488:Ankrd36	UTSW	11	5630772	missense	probably damaging	0.99
Z1176:Ankrd36	UTSW	11	5615538	missense	probably benign
Z1177:Ankrd36	UTSW	11	5571117	missense	probably damaging	0.97
Z1177:Ankrd36	UTSW	11	5629345	missense	probably benign	0.01
Z1177:Ankrd36	UTSW	11	5643738	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACTTGGGTTGCTTCACCTC -3'
(R):5'- GGTTACAGACTCAGATCAACAATAG -3'

Sequencing Primer
(F):5'- GGGTTGCTTCACCTCATAATATTC -3'
(R):5'- CAGACAGGGTTTCTCTGAATAGCC -3'

Posted On

2015-12-29