Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Ankrd36'

661168

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5629312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 192 (A192V)

Ref Sequence

ENSEMBL: ENSMUSP00000120499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112] [ENSMUST00000137933]

AlphaFold

D3Z4K0

Predicted Effect

probably benign
Transcript: ENSMUST00000109856
AA Change: A835V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: A835V

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: A867V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: A867V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137933
AA Change: A192V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: A192V

Domain	Start	End	E-Value	Type
low complexity region	463	476	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	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
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
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
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'- AAAGTTGGGGTGATTCTGCCC -3'
(R):5'- ACGGTGTTACGTTCCTTTGC -3'

Sequencing Primer
(F):5'- CCTTGCAAGCGACATGTACAGG -3'
(R):5'- GTCTACAAGGCTACACAATCTCATG -3'

Posted On

2021-03-08