Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Ankrd27'

165543

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

MMRRC Submission

039544-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35608365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 343 (S343L)

Ref Sequence

ENSEMBL: ENSMUSP00000140259 (fasta)

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably benign
Transcript: ENSMUST00000040844
AA Change: S343L

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: S343L

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: S343L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: S343L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187567

Predicted Effect

probably benign
Transcript: ENSMUST00000190503
AA Change: S343L

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: S343L

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: S343L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,876,718	S14P	probably damaging	Het
Abca15	A	T	7: 120,382,290	D989V	probably benign	Het
Abcg8	T	C	17: 84,696,679	S472P	probably damaging	Het
Ablim2	T	C	5: 35,809,261	F178S	probably damaging	Het
Adprm	A	G	11: 67,041,876	V69A	possibly damaging	Het
Arfgef3	A	G	10: 18,630,879	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,797	E339D	probably benign	Het
Axdnd1	T	A	1: 156,346,701	M799L	probably benign	Het
Cars2	A	T	8: 11,517,817		probably null	Het
Cd7	T	C	11: 121,038,141	T95A	probably damaging	Het
Cep290	A	T	10: 100,562,181	T2200S	probably benign	Het
Cep44	A	G	8: 56,532,835	S299P	probably damaging	Het
Cfap58	C	T	19: 47,988,504	H731Y	probably damaging	Het
Ehbp1	T	A	11: 22,006,866	E1204V	probably damaging	Het
Fam129a	T	A	1: 151,706,090	V479D	probably damaging	Het
Fam208a	A	G	14: 27,449,969	S425G	probably damaging	Het
Fgd5	A	G	6: 91,987,631	K124E	probably benign	Het
Folh1	T	C	7: 86,761,730	D268G	probably damaging	Het
Gm4559	A	T	7: 142,274,313	C17*	probably null	Het
Gm9833	A	G	3: 10,088,884	K238E	probably damaging	Het
Helz	A	G	11: 107,613,925	I413V	probably benign	Het
Hexdc	A	G	11: 121,221,267	I438V	probably benign	Het
Hrh1	G	A	6: 114,480,877	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,832,874	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,627,442	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,846,905	S1124R	probably damaging	Het
Map3k5	A	G	10: 20,029,113	D387G	probably damaging	Het
Morc2a	A	G	11: 3,678,557	N337D	probably benign	Het
Musk	C	T	4: 58,354,003	A352V	probably benign	Het
Nans	G	A	4: 46,500,761	E218K	probably damaging	Het
Ninl	T	G	2: 150,980,095	D29A	probably damaging	Het
Nod1	A	G	6: 54,944,056	F426L	probably damaging	Het
Notch4	T	A	17: 34,567,682	C265*	probably null	Het
Nsd3	A	G	8: 25,713,380	D1307G	probably benign	Het
Olfr555	T	C	7: 102,659,013	L64P	probably damaging	Het
Olfr670	T	A	7: 104,960,502	T77S	probably damaging	Het
Orai3	G	A	7: 127,773,905	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,813,670	Y271C	probably benign	Het
Rfc4	T	C	16: 23,118,008	I116V	probably damaging	Het
Ric1	T	C	19: 29,579,849	Y445H	probably benign	Het
Rnmt	G	A	18: 68,313,707	D268N	probably damaging	Het
Rsph1	C	T	17: 31,265,899	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,961,812	P483Q	probably damaging	Het
Sgo2b	A	G	8: 63,926,855	L981P	probably damaging	Het
Shmt2	A	G	10: 127,518,943		probably null	Het
Sorbs3	T	C	14: 70,192,627	T353A	possibly damaging	Het
Stk25	T	C	1: 93,625,600	T260A	probably benign	Het
Thap12	A	G	7: 98,715,438	H271R	probably benign	Het
Tmprss13	A	G	9: 45,336,107	T256A	probably benign	Het
Tpo	A	T	12: 30,131,809	I29N	possibly damaging	Het
Trpc2	A	T	7: 102,090,576	N569I	probably damaging	Het
Unc13c	T	C	9: 73,639,068	T1607A	probably benign	Het
Vldlr	A	G	19: 27,241,291	N514S	probably benign	Het
Vps18	A	G	2: 119,297,132	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,314,040	I409F	probably damaging	Het
Zfp735	G	A	11: 73,710,479	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,364,756	S88P	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGCAGGTCATCTCCAGCTTTC -3'
(R):5'- CCGGCTACTGACAGTGTAAATCCC -3'

Sequencing Primer
(F):5'- GCCTTTCCCAGGAAGTAACTCATAG -3'
(R):5'- TGACAGTGTAAATCCCACTGG -3'

Posted On

2014-03-28