Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Ankrd36'

189258

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

GC3, 1700012M14Rik, 1700008J08Rik

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

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

Stock #

R1682 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

5519684-5639337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5557143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 364 (S364P)

Ref Sequence

ENSEMBL: ENSMUSP00000122397 (fasta)

Gene Model

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

AlphaFold

D3Z4K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109856
AA Change: S332P

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

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: S332P

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: S364P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: S364P

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: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,283,043 (GRCm39)	D2203G	probably benign	Het
Acin1	A	G	14: 54,901,175 (GRCm39)	S629P	probably damaging	Het
Agbl2	T	A	2: 90,614,434 (GRCm39)	I22N	probably benign	Het
Ank1	A	G	8: 23,599,343 (GRCm39)	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,332,961 (GRCm39)	L13P	probably damaging	Het
Ap2a1	T	C	7: 44,565,362 (GRCm39)	T126A	probably benign	Het
Apob	A	G	12: 8,062,365 (GRCm39)	I3616V	probably benign	Het
Arl5a	A	T	2: 52,306,214 (GRCm39)	N39K	probably benign	Het
Baiap2	G	A	11: 119,888,366 (GRCm39)	R334H	probably damaging	Het
Bbox1	T	A	2: 110,122,893 (GRCm39)	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,882,908 (GRCm39)	L469P	probably damaging	Het
Brca1	A	G	11: 101,416,391 (GRCm39)	I581T	probably damaging	Het
Cacng2	T	C	15: 78,002,997 (GRCm39)	Y32C	probably damaging	Het
Capn9	G	T	8: 125,338,304 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,400,671 (GRCm39)	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,220,387 (GRCm39)	V593I	possibly damaging	Het
Cep128	G	C	12: 91,197,596 (GRCm39)	D91E	probably damaging	Het
Cep295	T	C	9: 15,245,217 (GRCm39)	M1080V	probably benign	Het
Coq8b	T	A	7: 26,939,549 (GRCm39)	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,970,162 (GRCm39)	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 25,066,539 (GRCm39)	S779P	probably damaging	Het
Dgat1	C	T	15: 76,387,219 (GRCm39)	C356Y	probably benign	Het
Dipk1c	A	T	18: 84,754,988 (GRCm39)	I155F	possibly damaging	Het
Dnah12	A	T	14: 26,500,840 (GRCm39)	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,851,040 (GRCm39)	S821G	probably damaging	Het
Dock4	G	A	12: 40,775,779 (GRCm39)	C574Y	probably damaging	Het
Dr1	T	C	5: 108,417,604 (GRCm39)	I50T	probably damaging	Het
Dzip3	A	T	16: 48,778,780 (GRCm39)		probably null	Het
Eln	C	A	5: 134,732,636 (GRCm39)	*861L	probably null	Het
Eml6	T	A	11: 29,709,065 (GRCm39)	H24L	probably benign	Het
Eps8l3	A	C	3: 107,798,622 (GRCm39)	T503P	possibly damaging	Het
Fgf1	C	A	18: 38,974,985 (GRCm39)	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,242,431 (GRCm39)	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121 (GRCm38)	R1463S	probably benign	Het
Fras1	C	T	5: 96,793,732 (GRCm39)	T1018I	probably benign	Het
Gm10803	T	A	2: 93,394,533 (GRCm39)	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,002,812 (GRCm39)	V233L	possibly damaging	Het
Gramd1a	T	C	7: 30,842,325 (GRCm39)		probably null	Het
Gsk3a	T	C	7: 24,935,133 (GRCm39)	T106A	possibly damaging	Het
Hap1	A	G	11: 100,240,302 (GRCm39)	V136A	possibly damaging	Het
Helq	A	T	5: 100,940,679 (GRCm39)	S307T	probably benign	Het
Herc2	T	A	7: 55,738,148 (GRCm39)	S264T	possibly damaging	Het
Htr4	A	G	18: 62,561,137 (GRCm39)	M133V	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jakmip2	A	G	18: 43,714,896 (GRCm39)		probably null	Het
Ldhd	T	A	8: 112,354,745 (GRCm39)	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,801,782 (GRCm39)	D700G	probably benign	Het
Magel2	T	G	7: 62,029,983 (GRCm39)	S962R	unknown	Het
Map2	A	C	1: 66,454,781 (GRCm39)		probably null	Het
Map3k1	T	A	13: 111,893,684 (GRCm39)	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,527,347 (GRCm39)	V180D	probably damaging	Het
Myef2	T	C	2: 124,939,978 (GRCm39)	M383V	probably damaging	Het
Myh3	A	G	11: 66,979,891 (GRCm39)	Y610C	probably damaging	Het
Or10ak7	A	G	4: 118,791,778 (GRCm39)	L89P	probably damaging	Het
Or51h1	T	C	7: 102,308,904 (GRCm39)	V292A	probably damaging	Het
Or8g54	T	A	9: 39,706,954 (GRCm39)	Y94*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,785 (GRCm39)	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,559,976 (GRCm39)	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,805,531 (GRCm39)	K270E	probably damaging	Het
Pigx	A	T	16: 31,906,268 (GRCm39)	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,623,849 (GRCm39)	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617 (GRCm39)		probably null	Het
Plppr2	T	A	9: 21,855,717 (GRCm39)	V230E	possibly damaging	Het
Pola2	A	G	19: 6,003,091 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,089,505 (GRCm39)	S273P	probably benign	Het
Prkdc	A	G	16: 15,494,853 (GRCm39)	E741G	probably benign	Het
Prom2	C	A	2: 127,382,082 (GRCm39)	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,056,912 (GRCm39)	D557G	possibly damaging	Het
Rgs10	T	C	7: 127,975,694 (GRCm39)	T158A	probably benign	Het
Rnf123	A	C	9: 107,954,597 (GRCm39)	Y40D	probably benign	Het
Rnf14	A	G	18: 38,441,242 (GRCm39)	T211A	probably benign	Het
Rp1l1	T	A	14: 64,266,417 (GRCm39)	S668T	probably damaging	Het
Sema6d	T	A	2: 124,507,069 (GRCm39)	L946Q	probably benign	Het
Sgcd	T	G	11: 47,085,869 (GRCm39)	K94Q	probably benign	Het
Skor2	A	T	18: 76,947,211 (GRCm39)	D311V	unknown	Het
Slc34a1	A	T	13: 23,996,623 (GRCm39)	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,434,542 (GRCm39)	P40T	probably damaging	Het
Srp72	C	A	5: 77,135,717 (GRCm39)	Q216K	possibly damaging	Het
Tmem62	C	T	2: 120,837,538 (GRCm39)	T485I	probably benign	Het
Tmem94	G	T	11: 115,681,056 (GRCm39)	V432L	probably damaging	Het
Trio	T	C	15: 27,744,232 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,292,055 (GRCm39)	D581E	probably benign	Het
Unc5d	T	A	8: 29,249,109 (GRCm39)	S319C	probably damaging	Het
Vmn1r211	T	C	13: 23,035,813 (GRCm39)	I285V	probably damaging	Het
Vmn2r68	A	G	7: 84,882,574 (GRCm39)	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,598,207 (GRCm39)	N77T	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
R0891:Ankrd36	UTSW	11	5,637,316 (GRCm39)	missense	possibly damaging	0.72
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
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'- AAGGCTCACTCACAGGTGTTGC -3'
(R):5'- CCACAGGCCAATGTGGGATTGAAC -3'

Sequencing Primer
(F):5'- TGTGGATGCTCAGAGTCTCA -3'
(R):5'- AATGAGAGCCTGTACCTGGTC -3'

Posted On

2014-05-14