Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Ankrd27'

562467

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27 (VPS9 domain)

Synonyms

D330003H11Rik, Varp

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35586244-35639226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35628446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 742 (D742G)

Ref Sequence

ENSEMBL: ENSMUSP00000140259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000190503] [ENSMUST00000206472] [ENSMUST00000206632]

AlphaFold

Q3UMR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040844
AA Change: D797G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: D797G

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

possibly damaging
Transcript: ENSMUST00000190503
AA Change: D742G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: D742G

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 benign
Transcript: ENSMUST00000206472

Predicted Effect

probably benign
Transcript: ENSMUST00000206632

Meta Mutation Damage Score

0.2109

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,294,175 (GRCm38)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,805,064 (GRCm38)		probably null	Het
Acvrl1	T	A	15: 101,136,223 (GRCm38)	C206*	probably null	Het
Adamts15	C	A	9: 30,906,158 (GRCm38)	R541S	probably damaging	Het
Add3	A	G	19: 53,233,146 (GRCm38)	I230V	probably benign	Het
Asxl3	A	G	18: 22,517,540 (GRCm38)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,411,499 (GRCm38)		probably null	Het
Atp2b2	G	A	6: 113,765,732 (GRCm38)	T798M	possibly damaging	Het
Car12	T	C	9: 66,752,317 (GRCm38)	I208T	probably damaging	Het
Cgn	T	A	3: 94,773,192 (GRCm38)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,632,645 (GRCm38)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,222,546 (GRCm38)	V496A	probably benign	Het
Cplx4	C	A	18: 65,957,052 (GRCm38)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,224,136 (GRCm38)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,609,697 (GRCm38)	L193P	probably damaging	Het
Dennd5b	C	T	6: 149,044,604 (GRCm38)	R503Q	probably damaging	Het
Depdc5	C	A	5: 32,901,865 (GRCm38)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,532,496 (GRCm38)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,813,828 (GRCm38)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,965,647 (GRCm38)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,469,658 (GRCm38)	G557*	probably null	Het
Eps8l2	A	G	7: 141,360,392 (GRCm38)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,721,375 (GRCm38)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,206,152 (GRCm38)	S7P	unknown	Het
Fli1	T	C	9: 32,424,188 (GRCm38)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203 (GRCm38)		probably benign	Het
Haus8	G	A	8: 71,253,137 (GRCm38)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,638,876 (GRCm38)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,748,417 (GRCm38)	Q161*	probably null	Het
Hsf4	C	T	8: 105,272,147 (GRCm38)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,288,016 (GRCm38)	W164R		Het
Isl1	A	G	13: 116,303,290 (GRCm38)	V174A	probably benign	Het
Itih4	A	T	14: 30,896,614 (GRCm38)	I661F	probably benign	Het
Klhl14	A	T	18: 21,652,136 (GRCm38)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,339,282 (GRCm38)	I177F	unknown	Het
Lingo3	T	A	10: 80,835,104 (GRCm38)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 105,461,057 (GRCm38)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,458,076 (GRCm38)	S497A	probably benign	Het
Mbip	A	G	12: 56,337,762 (GRCm38)		probably null	Het
Nelfa	C	T	5: 33,898,825 (GRCm38)	G498D	probably damaging	Het
Nlrc5	T	A	8: 94,521,805 (GRCm38)		probably null	Het
Olfr1312	A	T	2: 112,042,366 (GRCm38)	V222D	probably damaging	Het
Olfr679	T	C	7: 105,085,787 (GRCm38)	S24P	possibly damaging	Het
Olfr701	A	T	7: 106,818,443 (GRCm38)	Y120F	probably damaging	Het
Olfr863-ps1	T	A	9: 19,941,559 (GRCm38)	T294S	unknown	Het
Pde2a	A	G	7: 101,505,953 (GRCm38)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,800,957 (GRCm38)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,816,188 (GRCm38)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,797,658 (GRCm38)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,684,060 (GRCm38)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,290,451 (GRCm38)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm38)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,105,201 (GRCm38)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,604,191 (GRCm38)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,891 (GRCm38)	S35R	probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Samd15	T	A	12: 87,201,044 (GRCm38)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,547,946 (GRCm38)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,251,790 (GRCm38)	H141Q	probably benign	Het
Slc9a3r2	C	T	17: 24,650,104 (GRCm38)	R16H	probably damaging	Het
Snx21	T	C	2: 164,786,201 (GRCm38)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,487 (GRCm38)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,800,809 (GRCm38)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,263,971 (GRCm38)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,862,826 (GRCm38)	Y134C	probably damaging	Het
Tgif1	T	A	17: 70,846,173 (GRCm38)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,086,234 (GRCm38)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,297,920 (GRCm38)	S247P	possibly damaging	Het
Trav23	A	T	14: 53,977,568 (GRCm38)	R79S	probably damaging	Het
Trf	C	A	9: 103,225,148 (GRCm38)	C177F	probably damaging	Het
Triml1	T	C	8: 43,136,371 (GRCm38)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,236,235 (GRCm38)	F1513L	probably benign	Het
Umodl1	G	A	17: 30,986,116 (GRCm38)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,759,763 (GRCm38)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,846,961 (GRCm38)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,097,638 (GRCm38)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 10,053,083 (GRCm38)	N32K	probably benign	Het
Vps13d	A	G	4: 145,057,462 (GRCm38)	V3914A		Het
Vwa5b2	A	G	16: 20,604,128 (GRCm38)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,840,382 (GRCm38)	V77M	probably damaging	Het
Zfp397	A	T	18: 23,960,358 (GRCm38)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,119,212 (GRCm38)	R478C	probably benign	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35,614,456 (GRCm38)	missense	probably damaging	0.99
IGL02205:Ankrd27	APN	7	35,616,939 (GRCm38)	missense	probably damaging	1.00
IGL02372:Ankrd27	APN	7	35,633,036 (GRCm38)	splice site	probably null
IGL02629:Ankrd27	APN	7	35,625,696 (GRCm38)	missense	probably benign	0.00
IGL03394:Ankrd27	APN	7	35,607,098 (GRCm38)	splice site	probably null
deep_blue	UTSW	7	35,608,455 (GRCm38)	missense	probably benign	0.01
Rapture	UTSW	7	35,602,584 (GRCm38)	critical splice donor site	probably null
R0008:Ankrd27	UTSW	7	35,603,700 (GRCm38)	missense	probably benign	0.11
R0008:Ankrd27	UTSW	7	35,603,700 (GRCm38)	missense	probably benign	0.11
R0233:Ankrd27	UTSW	7	35,601,560 (GRCm38)	missense	probably damaging	1.00
R0233:Ankrd27	UTSW	7	35,601,560 (GRCm38)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,619,439 (GRCm38)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,619,439 (GRCm38)	missense	probably damaging	1.00
R0281:Ankrd27	UTSW	7	35,619,371 (GRCm38)	missense	probably damaging	0.98
R0373:Ankrd27	UTSW	7	35,638,053 (GRCm38)	missense	probably benign	0.00
R0833:Ankrd27	UTSW	7	35,608,347 (GRCm38)	missense	probably damaging	1.00
R0836:Ankrd27	UTSW	7	35,608,347 (GRCm38)	missense	probably damaging	1.00
R1191:Ankrd27	UTSW	7	35,602,487 (GRCm38)	missense	probably damaging	0.96
R1394:Ankrd27	UTSW	7	35,615,869 (GRCm38)	missense	possibly damaging	0.80
R1395:Ankrd27	UTSW	7	35,615,869 (GRCm38)	missense	possibly damaging	0.80
R1493:Ankrd27	UTSW	7	35,608,365 (GRCm38)	missense	probably benign	0.11
R1648:Ankrd27	UTSW	7	35,603,853 (GRCm38)	missense	probably benign	0.00
R1664:Ankrd27	UTSW	7	35,607,126 (GRCm38)	missense	probably damaging	1.00
R1698:Ankrd27	UTSW	7	35,614,521 (GRCm38)	missense	probably benign	0.01
R1717:Ankrd27	UTSW	7	35,628,446 (GRCm38)	missense	possibly damaging	0.87
R1919:Ankrd27	UTSW	7	35,632,985 (GRCm38)	missense	probably benign
R1956:Ankrd27	UTSW	7	35,603,839 (GRCm38)	missense	probably damaging	1.00
R2276:Ankrd27	UTSW	7	35,615,840 (GRCm38)	unclassified	probably benign
R3000:Ankrd27	UTSW	7	35,608,330 (GRCm38)	missense	probably damaging	1.00
R4604:Ankrd27	UTSW	7	35,628,490 (GRCm38)	missense	probably damaging	1.00
R4647:Ankrd27	UTSW	7	35,638,234 (GRCm38)	missense	probably benign
R4838:Ankrd27	UTSW	7	35,591,806 (GRCm38)	missense	possibly damaging	0.87
R4896:Ankrd27	UTSW	7	35,608,375 (GRCm38)	missense	probably damaging	1.00
R4973:Ankrd27	UTSW	7	35,632,992 (GRCm38)	missense	probably benign
R5004:Ankrd27	UTSW	7	35,608,375 (GRCm38)	missense	probably damaging	1.00
R5069:Ankrd27	UTSW	7	35,628,435 (GRCm38)	missense	probably damaging	0.98
R5182:Ankrd27	UTSW	7	35,628,487 (GRCm38)	missense	probably damaging	1.00
R5330:Ankrd27	UTSW	7	35,615,926 (GRCm38)	nonsense	probably null
R5458:Ankrd27	UTSW	7	35,591,811 (GRCm38)	missense	probably damaging	1.00
R6293:Ankrd27	UTSW	7	35,608,460 (GRCm38)	missense	possibly damaging	0.65
R6341:Ankrd27	UTSW	7	35,627,403 (GRCm38)	critical splice acceptor site	probably null
R6721:Ankrd27	UTSW	7	35,612,551 (GRCm38)	missense	probably damaging	1.00
R6860:Ankrd27	UTSW	7	35,628,527 (GRCm38)	missense	possibly damaging	0.62
R7027:Ankrd27	UTSW	7	35,612,526 (GRCm38)	missense	probably benign	0.00
R7177:Ankrd27	UTSW	7	35,619,397 (GRCm38)	missense	probably damaging	1.00
R7289:Ankrd27	UTSW	7	35,631,249 (GRCm38)	missense	probably damaging	1.00
R7933:Ankrd27	UTSW	7	35,601,649 (GRCm38)	splice site	probably benign
R8011:Ankrd27	UTSW	7	35,616,881 (GRCm38)	missense	probably benign	0.01
R8198:Ankrd27	UTSW	7	35,608,455 (GRCm38)	missense	probably benign	0.01
R8214:Ankrd27	UTSW	7	35,614,519 (GRCm38)	missense	probably damaging	1.00
R8327:Ankrd27	UTSW	7	35,601,560 (GRCm38)	missense	probably damaging	1.00
R8461:Ankrd27	UTSW	7	35,627,486 (GRCm38)	missense	probably damaging	1.00
R8508:Ankrd27	UTSW	7	35,601,626 (GRCm38)	nonsense	probably null
R8676:Ankrd27	UTSW	7	35,602,584 (GRCm38)	critical splice donor site	probably null
R8901:Ankrd27	UTSW	7	35,632,818 (GRCm38)	intron	probably benign
R9276:Ankrd27	UTSW	7	35,620,570 (GRCm38)	missense	probably benign	0.01
R9286:Ankrd27	UTSW	7	35,627,444 (GRCm38)	missense	probably benign	0.05
R9400:Ankrd27	UTSW	7	35,616,857 (GRCm38)	missense	probably damaging	1.00
R9624:Ankrd27	UTSW	7	35,602,466 (GRCm38)	missense	possibly damaging	0.88
R9786:Ankrd27	UTSW	7	35,591,869 (GRCm38)	missense	possibly damaging	0.79
Z1177:Ankrd27	UTSW	7	35,603,878 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AAAACCCTAGTGCCTGGTGC -3'
(R):5'- TACATGGTATACATACATGCAGGC -3'

Sequencing Primer
(F):5'- CCTGGTGCATTGTGGGC -3'
(R):5'- TGGTATACATACATGCAGGCAAAAC -3'

Posted On

2019-06-26