Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Ankrd27'

388538

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27

Synonyms

Varp, D330003H11Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35285669-35338651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35327860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 793 (K793N)

Ref Sequence

ENSEMBL: ENSMUSP00000041751 (fasta)

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: K793N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: K793N

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

unknown
Transcript: ENSMUST00000187807
AA Change: K226N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190503
AA Change: K738N

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: K738N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het

Other mutations in Ankrd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ankrd27	APN	7	35,313,881 (GRCm39)	missense	probably damaging	0.99
IGL02205:Ankrd27	APN	7	35,316,364 (GRCm39)	missense	probably damaging	1.00
IGL02372:Ankrd27	APN	7	35,332,461 (GRCm39)	splice site	probably null
IGL02629:Ankrd27	APN	7	35,325,121 (GRCm39)	missense	probably benign	0.00
IGL03394:Ankrd27	APN	7	35,306,523 (GRCm39)	splice site	probably null
deep_blue	UTSW	7	35,307,880 (GRCm39)	missense	probably benign	0.01
Rapture	UTSW	7	35,302,009 (GRCm39)	critical splice donor site	probably null
R0008:Ankrd27	UTSW	7	35,303,125 (GRCm39)	missense	probably benign	0.11
R0008:Ankrd27	UTSW	7	35,303,125 (GRCm39)	missense	probably benign	0.11
R0233:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R0233:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,318,864 (GRCm39)	missense	probably damaging	1.00
R0240:Ankrd27	UTSW	7	35,318,864 (GRCm39)	missense	probably damaging	1.00
R0281:Ankrd27	UTSW	7	35,318,796 (GRCm39)	missense	probably damaging	0.98
R0373:Ankrd27	UTSW	7	35,337,478 (GRCm39)	missense	probably benign	0.00
R0833:Ankrd27	UTSW	7	35,307,772 (GRCm39)	missense	probably damaging	1.00
R0836:Ankrd27	UTSW	7	35,307,772 (GRCm39)	missense	probably damaging	1.00
R1191:Ankrd27	UTSW	7	35,301,912 (GRCm39)	missense	probably damaging	0.96
R1394:Ankrd27	UTSW	7	35,315,294 (GRCm39)	missense	possibly damaging	0.80
R1395:Ankrd27	UTSW	7	35,315,294 (GRCm39)	missense	possibly damaging	0.80
R1493:Ankrd27	UTSW	7	35,307,790 (GRCm39)	missense	probably benign	0.11
R1648:Ankrd27	UTSW	7	35,303,278 (GRCm39)	missense	probably benign	0.00
R1664:Ankrd27	UTSW	7	35,306,551 (GRCm39)	missense	probably damaging	1.00
R1698:Ankrd27	UTSW	7	35,313,946 (GRCm39)	missense	probably benign	0.01
R1717:Ankrd27	UTSW	7	35,327,871 (GRCm39)	missense	possibly damaging	0.87
R1919:Ankrd27	UTSW	7	35,332,410 (GRCm39)	missense	probably benign
R1956:Ankrd27	UTSW	7	35,303,264 (GRCm39)	missense	probably damaging	1.00
R2276:Ankrd27	UTSW	7	35,315,265 (GRCm39)	unclassified	probably benign
R3000:Ankrd27	UTSW	7	35,307,755 (GRCm39)	missense	probably damaging	1.00
R4604:Ankrd27	UTSW	7	35,327,915 (GRCm39)	missense	probably damaging	1.00
R4647:Ankrd27	UTSW	7	35,337,659 (GRCm39)	missense	probably benign
R4838:Ankrd27	UTSW	7	35,291,231 (GRCm39)	missense	possibly damaging	0.87
R4896:Ankrd27	UTSW	7	35,307,800 (GRCm39)	missense	probably damaging	1.00
R4973:Ankrd27	UTSW	7	35,332,417 (GRCm39)	missense	probably benign
R5004:Ankrd27	UTSW	7	35,307,800 (GRCm39)	missense	probably damaging	1.00
R5182:Ankrd27	UTSW	7	35,327,912 (GRCm39)	missense	probably damaging	1.00
R5330:Ankrd27	UTSW	7	35,315,351 (GRCm39)	nonsense	probably null
R5458:Ankrd27	UTSW	7	35,291,236 (GRCm39)	missense	probably damaging	1.00
R6293:Ankrd27	UTSW	7	35,307,885 (GRCm39)	missense	possibly damaging	0.65
R6341:Ankrd27	UTSW	7	35,326,828 (GRCm39)	critical splice acceptor site	probably null
R6721:Ankrd27	UTSW	7	35,311,976 (GRCm39)	missense	probably damaging	1.00
R6860:Ankrd27	UTSW	7	35,327,952 (GRCm39)	missense	possibly damaging	0.62
R7027:Ankrd27	UTSW	7	35,311,951 (GRCm39)	missense	probably benign	0.00
R7177:Ankrd27	UTSW	7	35,318,822 (GRCm39)	missense	probably damaging	1.00
R7231:Ankrd27	UTSW	7	35,327,871 (GRCm39)	missense	possibly damaging	0.87
R7289:Ankrd27	UTSW	7	35,330,674 (GRCm39)	missense	probably damaging	1.00
R7933:Ankrd27	UTSW	7	35,301,074 (GRCm39)	splice site	probably benign
R8011:Ankrd27	UTSW	7	35,316,306 (GRCm39)	missense	probably benign	0.01
R8198:Ankrd27	UTSW	7	35,307,880 (GRCm39)	missense	probably benign	0.01
R8214:Ankrd27	UTSW	7	35,313,944 (GRCm39)	missense	probably damaging	1.00
R8327:Ankrd27	UTSW	7	35,300,985 (GRCm39)	missense	probably damaging	1.00
R8461:Ankrd27	UTSW	7	35,326,911 (GRCm39)	missense	probably damaging	1.00
R8508:Ankrd27	UTSW	7	35,301,051 (GRCm39)	nonsense	probably null
R8676:Ankrd27	UTSW	7	35,302,009 (GRCm39)	critical splice donor site	probably null
R8901:Ankrd27	UTSW	7	35,332,243 (GRCm39)	intron	probably benign
R9276:Ankrd27	UTSW	7	35,319,995 (GRCm39)	missense	probably benign	0.01
R9286:Ankrd27	UTSW	7	35,326,869 (GRCm39)	missense	probably benign	0.05
R9400:Ankrd27	UTSW	7	35,316,282 (GRCm39)	missense	probably damaging	1.00
R9624:Ankrd27	UTSW	7	35,301,891 (GRCm39)	missense	possibly damaging	0.88
R9786:Ankrd27	UTSW	7	35,291,294 (GRCm39)	missense	possibly damaging	0.79
Z1177:Ankrd27	UTSW	7	35,303,303 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AAAGATGAAAACCCTAGTGCCTG -3'
(R):5'- TGGTATACATACATGCAGGCAAAAC -3'

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

Posted On

2016-06-06