Mutagenetix > Incidental Mutations

Incidental Mutation 'R5004:Ankrd27'

390063

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

MMRRC Submission

042597-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35608375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 346 (D346E)

Ref Sequence

ENSEMBL: ENSMUSP00000146118 (fasta)

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: D346E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: D346E

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: D346E

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

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: D346E

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 damaging
Transcript: ENSMUST00000190503
AA Change: D346E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: D346E

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 damaging
Transcript: ENSMUST00000206472
AA Change: D346E

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

Meta Mutation Damage Score

0.5267

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,555,927	D189E	possibly damaging	Het
2610528A11Rik	A	T	14: 37,102,665	C60S	probably damaging	Het
Abca5	C	T	11: 110,279,376	E1298K	probably damaging	Het
Actg1	C	A	11: 120,348,160		probably benign	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alox12e	A	G	11: 70,321,504	V116A	probably benign	Het
Arfgap3	T	A	15: 83,310,296	S391C	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,518,956		probably null	Het
Cav3	A	G	6: 112,459,924	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,932,945	R101H	probably damaging	Het
Cops7b	A	G	1: 86,587,410		probably benign	Het
Cyp4a12b	C	T	4: 115,438,113	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,601,041	S23P	probably damaging	Het
Cyp4f13	T	G	17: 32,925,786	I275L	probably benign	Het
Dlgap1	T	A	17: 70,718,227		probably null	Het
Dnajc12	A	T	10: 63,386,707	I4L	probably benign	Het
Ephb2	T	A	4: 136,659,699	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,760,821	N303I	probably damaging	Het
Fdxr	T	C	11: 115,269,573	E352G	probably benign	Het
Fhad1	T	G	4: 142,002,599		probably null	Het
Fhod1	C	T	8: 105,336,945		probably benign	Het
Fndc7	G	A	3: 108,883,473	T79M	probably damaging	Het
Fry	A	G	5: 150,433,604	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm13088	T	C	4: 143,654,136	Q439R	probably benign	Het
Hacl1	C	A	14: 31,619,039	C346F	probably benign	Het
Hectd4	C	A	5: 121,328,199		probably null	Het
Hectd4	C	T	5: 121,329,565	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Itih4	T	G	14: 30,892,672	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,226,502	K91*	probably null	Het
Kiz	C	G	2: 146,969,979	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Kndc1	C	A	7: 139,932,879	C1514*	probably null	Het
Lipo2	A	G	19: 33,721,676		probably null	Het
Macf1	T	C	4: 123,385,475	D5921G	probably damaging	Het
Mau2	A	G	8: 70,025,887	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,641,804	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,170,268	Y3H	probably damaging	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,981,787	L22R	probably benign	Het
Msln	T	G	17: 25,754,219	M1L	possibly damaging	Het
Myh15	T	A	16: 49,132,048	I827N	probably damaging	Het
Myh7	T	C	14: 54,971,683	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,744,773		probably null	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nup210l	A	T	3: 90,180,165	R1082*	probably null	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Olfr487	T	A	7: 108,212,116	K138*	probably null	Het
Olfr860	T	C	9: 19,846,102	I172M	probably benign	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,149,577	A690E	probably benign	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prrc2a	T	A	17: 35,149,998	N2021Y	probably benign	Het
Prss3	T	C	6: 41,373,902	Y218C	probably damaging	Het
Psg20	T	C	7: 18,680,912	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,586,063	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,717,666	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 105,618,820		probably null	Het
Rnf31	T	C	14: 55,592,182	L68P	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,032,177	Q92*	probably null	Het
Scfd1	A	G	12: 51,444,994	R580G	probably benign	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sema4b	C	A	7: 80,216,345	T154N	probably benign	Het
Sept14	T	A	5: 129,692,976	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,150,355	S235T	probably benign	Het
Setd4	G	T	16: 93,591,245	H118N	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,161,111	H402Q	probably damaging	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spef2	T	G	15: 9,578,327	S1704R	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Steap1	G	T	5: 5,742,829	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,671,133	T115S	probably benign	Het
Tet2	A	T	3: 133,487,379	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,721,046	V170G	probably benign	Het
Tom1	T	C	8: 75,052,002	L99P	probably damaging	Het
Trim11	C	A	11: 58,981,338		probably benign	Het
Trio	T	C	15: 27,755,178	K955R	probably damaging	Het
Tubd1	C	T	11: 86,561,320	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,841,677	M13I	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Usp34	A	G	11: 23,464,586	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,748,273	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r51	T	A	7: 10,088,005	E584D	probably benign	Het
Zbtb22	G	T	17: 33,917,243	A121S	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,490,044	V335M	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
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'- TACAATATGGGCAGTGGGCTG -3'
(R):5'- AAACGATTAACCAGCTGAGGC -3'

Sequencing Primer
(F):5'- GCAGTGGGCTGAAGCTG -3'
(R):5'- CTCCAGGCTTGGGAGACGATG -3'

Posted On

2016-06-06