Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Ankrd36'

96628

Institutional Source

Beutler Lab

Gene Symbol

Ankrd36

Ensembl Gene

ENSMUSG00000020481

Gene Name

ankyrin repeat domain 36

Synonyms

1700012M14Rik, 1700008J08Rik, GC3

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

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

Stock #

R1018 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

5569684-5689337 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 5646876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120499 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000118112

SMART Domains

Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481

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

SMART Domains

Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 80,001,491	C403F	probably damaging	Het
Adam20	C	T	8: 40,796,109	Q419*	probably null	Het
Arl8b	T	A	6: 108,818,611	I170K	probably damaging	Het
Atp5f1	A	T	3: 105,954,172	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cgnl1	A	G	9: 71,726,058	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,993,563	C176R	probably damaging	Het
Dst	A	G	1: 34,194,093	D3392G	probably damaging	Het
Eed	T	C	7: 89,967,811		probably benign	Het
Efl1	T	A	7: 82,763,013	V870E	possibly damaging	Het
Epx	T	C	11: 87,869,303	N495S	probably benign	Het
Fbxw20	T	A	9: 109,221,336	Y407F	probably benign	Het
Gbp9	T	A	5: 105,080,260	Q552L	probably benign	Het
Hspa13	C	A	16: 75,761,276	V134L	possibly damaging	Het
Il16	T	C	7: 83,674,538	N268S	probably damaging	Het
Kif14	G	A	1: 136,495,841		probably benign	Het
Lrig1	G	A	6: 94,622,602		probably benign	Het
Myo7a	T	A	7: 98,107,005	D29V	probably damaging	Het
Nsd2	A	G	5: 33,843,241	K34R	probably damaging	Het
Olfr1234	C	A	2: 89,363,179	L83F	possibly damaging	Het
P3h1	C	A	4: 119,237,907	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,201,259	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,342,960	L535P	probably damaging	Het
Ppp1r32	A	T	19: 10,479,460		probably benign	Het
Prom1	A	T	5: 44,029,714	S400R	probably benign	Het
Psap	T	G	10: 60,300,811	L523R	probably damaging	Het
Psme4	C	T	11: 30,804,310	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,029,869	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,878,000	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,712,390	C601F	probably benign	Het
Sfswap	A	G	5: 129,554,576	K756R	possibly damaging	Het
Slc24a5	T	C	2: 125,068,907	V86A	probably damaging	Het
Srrm2	T	C	17: 23,822,540	S2575P	probably damaging	Het
Stam	T	C	2: 14,117,374		probably benign	Het
Tbx6	T	A	7: 126,783,192		probably benign	Het
Tmem131	A	C	1: 36,794,819	F1727V	probably damaging	Het
Tpr	T	A	1: 150,442,183	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Uba5	T	C	9: 104,049,903	T292A	probably benign	Het
Unc5a	T	A	13: 54,990,952	V48E	possibly damaging	Het
Upf1	G	T	8: 70,338,906	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414		probably benign	Het
Vmn2r6	T	A	3: 64,556,840	D191V	probably benign	Het
Wapl	T	C	14: 34,691,906	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,646,052	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,496,843	S475*	probably null	Het
Zfp957	C	A	14: 79,212,742	C539F	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
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
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'- TAATAAACAGGAGGTGTTGACTGGGGTA -3'
(R):5'- GAACCTGAACTCTTCCACGTTCTGTGA -3'

Sequencing Primer
(F):5'- CACCACTTCTGTGCATTTACTGC -3'
(R):5'- CCACGTTCTGTGACTCGG -3'

Posted On

2014-01-05