Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Ankrd27'

432877

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

MMRRC Submission

043021-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35591811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 11 (N11D)

Ref Sequence

ENSEMBL: ENSMUSP00000146118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000186245] [ENSMUST00000188906] [ENSMUST00000190503] [ENSMUST00000206157] [ENSMUST00000206472]

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: N11D

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	8e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	742	774	8.39e-3	SMART
ANK	775	804	5.93e-3	SMART
ANK	808	837	4.46e-7	SMART
ANK	841	870	2.81e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186245
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: N11D

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	1e-8	BLAST
VPS9	264	377	2.19e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188906
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867
AA Change: N11D

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	4e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000190503
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: N11D

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	7e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	687	719	8.39e-3	SMART
ANK	720	749	5.93e-3	SMART
ANK	753	782	4.46e-7	SMART
ANK	786	815	2.81e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206157
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206472
AA Change: N11D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4169

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,050,050		probably benign	Het
Acsl5	A	G	19: 55,294,230	D589G	probably damaging	Het
Akap13	T	A	7: 75,586,301	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,434,810	R512K	probably benign	Het
Ankhd1	T	C	18: 36,648,485	S2197P	probably benign	Het
Aspg	T	C	12: 112,120,002	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,414,725	Y709*	probably null	Het
Atp8b2	T	C	3: 89,946,022	N748D	probably benign	Het
B4galnt3	A	G	6: 120,210,385	V684A	probably damaging	Het
Bco2	T	C	9: 50,545,344		probably null	Het
Bcr	T	C	10: 75,154,960	V766A	probably benign	Het
Brca1	T	C	11: 101,517,285	N1404S	possibly damaging	Het
Chd1	A	G	17: 15,738,549	D621G	probably damaging	Het
Chek1	A	G	9: 36,714,429	S307P	probably benign	Het
Dhx29	T	C	13: 112,966,621	M1345T	probably benign	Het
Dnah6	T	A	6: 73,086,185	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,369,852	V753A	probably damaging	Het
Fat1	T	C	8: 45,013,053	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,926,743	Q445R	probably benign	Het
Fv1	A	G	4: 147,870,269	S431G	probably benign	Het
Gm5965	A	T	16: 88,778,507	R189S	probably benign	Het
Gnas	A	G	2: 174,298,331	I98V	probably benign	Het
Ino80	T	C	2: 119,412,429	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,239,919	L277P	probably damaging	Het
Lipc	T	C	9: 70,852,582		probably benign	Het
Myo3a	T	C	2: 22,245,550	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,524,276	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,827,900	Q285K	possibly damaging	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Pax5	T	C	4: 44,679,526	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,504,779	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,027,791	S964G	probably benign	Het
Phip	G	T	9: 82,926,500	P474Q	probably benign	Het
Pop5	C	T	5: 115,240,437		probably benign	Het
Ppfibp1	A	T	6: 147,012,435		probably benign	Het
Rdh11	C	T	12: 79,188,505	A106T	probably benign	Het
Rin3	A	G	12: 102,373,716	T642A	probably damaging	Het
Scmh1	C	T	4: 120,505,281		probably benign	Het
Skint2	A	G	4: 112,624,180	H80R	possibly damaging	Het
Spata16	A	T	3: 26,777,537	N265I	probably damaging	Het
Srpk1	T	C	17: 28,599,472		probably null	Het
Tcaf1	T	C	6: 42,686,542	T135A	probably benign	Het
Trappc12	A	G	12: 28,746,390	V381A	probably damaging	Het
Trim33	T	A	3: 103,330,180	I184K	possibly damaging	Het
Unc13a	C	T	8: 71,664,245	V62M	probably damaging	Het
Vrk2	A	G	11: 26,498,919	V225A	probably damaging	Het
Wdr66	A	G	5: 123,254,445		probably benign	Het
Wdr95	C	T	5: 149,564,414	P171L	probably damaging	Het
Wsb1	T	C	11: 79,248,436	T75A	probably damaging	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35614456	missense	probably damaging	0.99
IGL02205:Ankrd27	APN	7	35616939	missense	probably damaging	1.00
IGL02372:Ankrd27	APN	7	35633036	splice site	probably null
IGL02629:Ankrd27	APN	7	35625696	missense	probably benign	0.00
IGL03394:Ankrd27	APN	7	35607098	splice site	probably null
deep_blue	UTSW	7	35608455	missense	probably benign	0.01
Rapture	UTSW	7	35602584	critical splice donor site	probably null
R0008:Ankrd27	UTSW	7	35603700	missense	probably benign	0.11
R0008:Ankrd27	UTSW	7	35603700	missense	probably benign	0.11
R0233:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R0233:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35619439	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35619439	missense	probably damaging	1.00
R0281:Ankrd27	UTSW	7	35619371	missense	probably damaging	0.98
R0373:Ankrd27	UTSW	7	35638053	missense	probably benign	0.00
R0833:Ankrd27	UTSW	7	35608347	missense	probably damaging	1.00
R0836:Ankrd27	UTSW	7	35608347	missense	probably damaging	1.00
R1191:Ankrd27	UTSW	7	35602487	missense	probably damaging	0.96
R1394:Ankrd27	UTSW	7	35615869	missense	possibly damaging	0.80
R1395:Ankrd27	UTSW	7	35615869	missense	possibly damaging	0.80
R1493:Ankrd27	UTSW	7	35608365	missense	probably benign	0.11
R1648:Ankrd27	UTSW	7	35603853	missense	probably benign	0.00
R1664:Ankrd27	UTSW	7	35607126	missense	probably damaging	1.00
R1698:Ankrd27	UTSW	7	35614521	missense	probably benign	0.01
R1717:Ankrd27	UTSW	7	35628446	missense	possibly damaging	0.87
R1919:Ankrd27	UTSW	7	35632985	missense	probably benign
R1956:Ankrd27	UTSW	7	35603839	missense	probably damaging	1.00
R2276:Ankrd27	UTSW	7	35615840	unclassified	probably benign
R3000:Ankrd27	UTSW	7	35608330	missense	probably damaging	1.00
R4604:Ankrd27	UTSW	7	35628490	missense	probably damaging	1.00
R4647:Ankrd27	UTSW	7	35638234	missense	probably benign
R4838:Ankrd27	UTSW	7	35591806	missense	possibly damaging	0.87
R4896:Ankrd27	UTSW	7	35608375	missense	probably damaging	1.00
R4973:Ankrd27	UTSW	7	35632992	missense	probably benign
R5004:Ankrd27	UTSW	7	35608375	missense	probably damaging	1.00
R5069:Ankrd27	UTSW	7	35628435	missense	probably damaging	0.98
R5182:Ankrd27	UTSW	7	35628487	missense	probably damaging	1.00
R5330:Ankrd27	UTSW	7	35615926	nonsense	probably null
R6293:Ankrd27	UTSW	7	35608460	missense	possibly damaging	0.65
R6341:Ankrd27	UTSW	7	35627403	critical splice acceptor site	probably null
R6721:Ankrd27	UTSW	7	35612551	missense	probably damaging	1.00
R6860:Ankrd27	UTSW	7	35628527	missense	possibly damaging	0.62
R7027:Ankrd27	UTSW	7	35612526	missense	probably benign	0.00
R7177:Ankrd27	UTSW	7	35619397	missense	probably damaging	1.00
R7231:Ankrd27	UTSW	7	35628446	missense	possibly damaging	0.87
R7289:Ankrd27	UTSW	7	35631249	missense	probably damaging	1.00
R7933:Ankrd27	UTSW	7	35601649	splice site	probably benign
R8011:Ankrd27	UTSW	7	35616881	missense	probably benign	0.01
R8198:Ankrd27	UTSW	7	35608455	missense	probably benign	0.01
R8214:Ankrd27	UTSW	7	35614519	missense	probably damaging	1.00
R8327:Ankrd27	UTSW	7	35601560	missense	probably damaging	1.00
R8461:Ankrd27	UTSW	7	35627486	missense	probably damaging	1.00
R8508:Ankrd27	UTSW	7	35601626	nonsense	probably null
R8676:Ankrd27	UTSW	7	35602584	critical splice donor site	probably null
R8901:Ankrd27	UTSW	7	35632818	intron	probably benign
R9276:Ankrd27	UTSW	7	35620570	missense	probably benign	0.01
R9286:Ankrd27	UTSW	7	35627444	missense	probably benign	0.05
R9400:Ankrd27	UTSW	7	35616857	missense	probably damaging	1.00
Z1177:Ankrd27	UTSW	7	35603878	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CATGCATGGATTTGTGGGTCAC -3'
(R):5'- GGTTCGTTTAACTCCACAGCTC -3'

Sequencing Primer
(F):5'- CCAGCTATGCCAGTTAAGGTG -3'
(R):5'- ACAGCTCTGCAACTGACTTC -3'

Posted On

2016-10-06