Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Ankrd27'

187017

Institutional Source

Beutler Lab

Gene Symbol

Ankrd27

Ensembl Gene

ENSMUSG00000034867

Gene Name

ankyrin repeat domain 27

Synonyms

Varp, D330003H11Rik

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35285669-35338651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35306551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 310 (D310E)

Ref Sequence

ENSEMBL: ENSMUSP00000140554 (fasta)

Gene Model

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

AlphaFold

Q3UMR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040844
AA Change: D310E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: D310E

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: D310E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: D310E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190503
AA Change: D310E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: D310E

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: D310E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	possibly damaging	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
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
R5069:Ankrd27	UTSW	7	35,327,860 (GRCm39)	missense	probably damaging	0.98
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'- AGGACACTTTCTGCCTGGAGTGTG -3'
(R):5'- ACTGAAGGAAAGCTGCCCCTGAAG -3'

Sequencing Primer
(F):5'- CCTGGAGTGTGGTTTCCC -3'
(R):5'- gctctcctgaaatcccagaac -3'

Posted On

2014-05-09