Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Ankrd27'

8105

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

MMRRC Submission

038303-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0008 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35603700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 196 (K196R)

Ref Sequence

ENSEMBL: ENSMUSP00000146118 (fasta)

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably benign
Transcript: ENSMUST00000040844
AA Change: K196R

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: K196R

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 benign
Transcript: ENSMUST00000186245
AA Change: K196R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: K196R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188906

SMART Domains

Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190503
AA Change: K196R

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: K196R

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

noncoding transcript
Transcript: ENSMUST00000205801

Predicted Effect

probably benign
Transcript: ENSMUST00000206157

Predicted Effect

probably benign
Transcript: ENSMUST00000206472
AA Change: K196R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 81.0%
3x: 72.4%
10x: 49.2%
20x: 28.4%

Validation Efficiency

90% (82/91)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,176,585	K118R	possibly damaging	Het
Afap1l1	A	G	18: 61,756,905	S87P	probably benign	Het
Arrdc3	T	A	13: 80,891,075	I75N	probably damaging	Het
Calcrl	T	C	2: 84,373,274	D54G	probably benign	Het
Cnot1	G	T	8: 95,761,341	D562E	probably damaging	Het
Cp	T	A	3: 19,968,123	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,437,995	V64A	probably damaging	Het
Fat2	A	T	11: 55,311,249	L333H	probably damaging	Het
Hoxc11	T	C	15: 102,954,962	V146A	probably damaging	Het
Il11	T	C	7: 4,773,659	S111G	probably benign	Het
Ist1	A	T	8: 109,676,786	I273K	probably benign	Het
Lrp2	T	A	2: 69,516,551	N784Y	probably benign	Het
Lrp6	T	C	6: 134,485,753	E648G	probably damaging	Het
Mtbp	T	A	15: 55,586,493		probably benign	Het
Nat9	A	T	11: 115,185,115	Y27N	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,558,448	H852L	probably benign	Het
Pax9	A	G	12: 56,709,743	T289A	probably benign	Het
Pcyt2	A	T	11: 120,615,869	I53N	possibly damaging	Het
Pdzph1	T	A	17: 58,922,761		probably benign	Het
Plekhm2	C	T	4: 141,642,393		probably benign	Het
Ppt1	T	C	4: 122,848,423		probably benign	Het
Prep	T	C	10: 45,115,078	V280A	probably benign	Het
Proser3	G	A	7: 30,540,138	R514C	probably damaging	Het
Rbm45	T	C	2: 76,378,398	Y293H	probably damaging	Het
Sdk2	A	G	11: 113,856,755	L643P	probably damaging	Het
Slc1a1	G	A	19: 28,901,484	G208S	probably benign	Het
Slc35b4	A	T	6: 34,158,517	Y287N	probably damaging	Het
Srgap2	T	C	1: 131,355,564	T260A	probably damaging	Het
Taf5	A	G	19: 47,075,862	S415G	possibly damaging	Het
Tdp2	T	G	13: 24,841,350		probably null	Het
Tnrc6a	G	A	7: 123,170,394	R469H	probably benign	Het
Tox	T	A	4: 6,842,411	M40L	probably benign	Het
Trib2	A	T	12: 15,809,929	H110Q	probably benign	Het
Trpa1	A	G	1: 14,903,215	I293T	possibly damaging	Het
Wdr93	A	G	7: 79,758,473	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,415,947	S245R	probably benign	Het
Zfyve9	T	A	4: 108,718,705	E393V	possibly 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
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
R5458:Ankrd27	UTSW	7	35591811	missense	probably damaging	1.00
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

Posted On

2012-11-20