Mutagenetix > Incidental Mutations

Incidental Mutation 'R1663:Ankrd36'

186947

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

MMRRC Submission

039699-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5620126 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 531 (D531E)

Ref Sequence

ENSEMBL: ENSMUSP00000122397 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: D499E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: D499E

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: D531E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: D531E

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 24,687,933	T11S	probably benign	Het
Adgb	T	C	10: 10,339,675	M1529V	possibly damaging	Het
Ankzf1	C	T	1: 75,196,270	P337S	probably damaging	Het
Apc	A	G	18: 34,268,325	I55V	probably damaging	Het
Aplnr	A	G	2: 85,136,694	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,588,714	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,276,965	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,437,603	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,603,324	Q1082R	possibly damaging	Het
Atl2	A	G	17: 79,864,711	S28P	probably damaging	Het
Brd7	T	C	8: 88,358,023	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,623,547	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,216,090	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,729,451	M38K	probably damaging	Het
Cldn14	A	G	16: 93,919,278	S227P	probably damaging	Het
Clspn	T	A	4: 126,565,975	C332S	probably benign	Het
Col5a1	T	C	2: 27,951,476	S370P	unknown	Het
Comp	T	C	8: 70,373,600	L10P	possibly damaging	Het
Dcc	A	T	18: 71,826,052	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,754,944	Q250*	probably null	Het
Drd5	T	C	5: 38,320,855	F397S	probably benign	Het
Dst	T	C	1: 34,163,385	S265P	probably damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Eno3	T	C	11: 70,662,274		probably null	Het
Fam13a	G	A	6: 58,954,372	R408*	probably null	Het
Gipc2	T	A	3: 152,094,164	M310L	probably benign	Het
Gm14496	T	C	2: 181,997,437	V440A	probably benign	Het
Gzmg	A	T	14: 56,156,808	C210S	probably damaging	Het
Helb	G	T	10: 120,105,433	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439	I190N	possibly damaging	Het
Hk3	A	T	13: 55,006,575	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,075,395	S221P	probably damaging	Het
Ifna9	T	C	4: 88,591,983	T135A	probably benign	Het
Igfn1	C	T	1: 135,968,308	G1507R	probably benign	Het
Kank3	A	G	17: 33,818,375	T218A	probably benign	Het
Kcp	G	T	6: 29,498,965	R337S	possibly damaging	Het
Krt74	A	T	15: 101,756,674		noncoding transcript	Het
Lrp1	A	T	10: 127,556,921	D2758E	probably damaging	Het
Ly75	T	C	2: 60,314,234	E1295G	probably damaging	Het
Mccc1	C	A	3: 35,978,933	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,656	T198M	probably benign	Het
Mtmr2	C	T	9: 13,803,501	T519I	probably damaging	Het
Nbea	A	G	3: 55,645,986	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903	D295E	probably benign	Het
Ndufb8	T	C	19: 44,550,381	Y167C	probably damaging	Het
Nisch	A	G	14: 31,191,521		probably benign	Het
Notch3	C	T	17: 32,156,119	G407D	probably damaging	Het
Nucb1	A	G	7: 45,498,864	F175S	probably damaging	Het
Olfr355	T	G	2: 36,927,334	Y260S	probably damaging	Het
Olfr804	G	A	10: 129,705,291	V138M	probably benign	Het
Olfr834	T	A	9: 18,988,710	C241S	probably damaging	Het
Olfr907	T	G	9: 38,499,572	I301R	unknown	Het
Pip5k1c	T	C	10: 81,312,515	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857		probably benign	Het
Prkag1	A	G	15: 98,815,895	V18A	probably damaging	Het
Rad50	T	C	11: 53,668,223	N1063S	probably benign	Het
Rnf170	C	T	8: 26,129,143	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,437,672	D1977G	probably benign	Het
Sema3a	G	A	5: 13,557,125		probably null	Het
Setx	T	A	2: 29,126,905	C7S	probably damaging	Het
Slc23a2	A	G	2: 132,065,464	I417T	probably damaging	Het
Spink6	T	G	18: 44,071,521	F18C	unknown	Het
Sptbn1	T	C	11: 30,120,783	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,652,826	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,197,944	K1040N	probably benign	Het
Tll1	T	A	8: 64,017,686	Y901F	probably benign	Het
Tmem81	C	T	1: 132,507,897	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,759	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,336,452	I827N	probably benign	Het
Wdr35	A	G	12: 9,020,000	K857R	probably benign	Het
Wdr60	T	C	12: 116,229,610	Q574R	probably benign	Het
Zfp110	A	G	7: 12,848,642	T406A	probably benign	Het
Zfp52	T	C	17: 21,561,822	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,127,585	V190I	probably benign	Het
Zfp964	A	G	8: 69,664,083		probably null	Het
Zmynd8	A	G	2: 165,807,885	S779P	probably benign	Het
Zswim5	T	A	4: 116,986,895	N1043K	probably damaging	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
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
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
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
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'- AATCTGCACTCAGTAACACTTCCCATTT -3'
(R):5'- TGAGAGACCCAAGTAGAAACCTACTGAC -3'

Sequencing Primer
(F):5'- TTACAGATGTCCCTCATAAGACCAG -3'
(R):5'- CTGACTGATTCTAACTATGTCGGATG -3'

Posted On

2014-05-09