Mutagenetix > Incidental Mutation

Incidental Mutation 'R4731:Ankrd28'

358878

Institutional Source

Beutler Lab

Gene Symbol

Ankrd28

Ensembl Gene

ENSMUSG00000014496

Gene Name

ankyrin repeat domain 28

Synonyms

E430019N21Rik

MMRRC Submission

042021-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R4731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31420725-31552608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31477698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 115 (C115G)

Ref Sequence

ENSEMBL: ENSMUSP00000153992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863] [ENSMUST00000228037]

AlphaFold

Q505D1

Predicted Effect

probably benign
Transcript: ENSMUST00000014640
AA Change: C85G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: C85G

Domain	Start	End	E-Value	Type
ANK	7	36	5.69e2	SMART
ANK	40	69	2.45e-4	SMART
ANK	73	102	1.59e-3	SMART
ANK	106	135	1.09e-1	SMART
ANK	139	168	1.58e-7	SMART
ANK	172	201	4.97e-5	SMART
ANK	205	234	1.01e-5	SMART
ANK	238	267	2.74e-7	SMART
ANK	271	301	4.13e-2	SMART
ANK	305	334	3.8e-1	SMART
ANK	338	367	3.06e-5	SMART
ANK	371	400	1.44e-1	SMART
ANK	404	433	6.76e-7	SMART
ANK	437	466	1.73e-4	SMART
ANK	470	500	7.83e-3	SMART
ANK	504	534	2.99e1	SMART
ANK	549	578	1.34e-1	SMART
ANK	582	611	3.76e-5	SMART
ANK	616	645	4.13e-2	SMART
ANK	652	681	1.24e-5	SMART
ANK	685	714	4.5e-3	SMART
ANK	718	747	1.93e-2	SMART
ANK	755	784	2.85e-5	SMART
ANK	787	818	2.15e0	SMART
ANK	822	851	2.16e-5	SMART
ANK	855	885	4.5e-3	SMART
ANK	889	918	6.61e-1	SMART
ANK	925	954	3.85e-2	SMART
low complexity region	982	995	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227034

Predicted Effect

probably benign
Transcript: ENSMUST00000227089

Predicted Effect

probably benign
Transcript: ENSMUST00000227863
AA Change: C115G

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000228037
AA Change: C57G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1140

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,468 (GRCm39)	M149K	probably damaging	Het
Adamts12	A	T	15: 11,270,748 (GRCm39)	S668C	probably damaging	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aim2	T	A	1: 173,291,442 (GRCm39)	D282E	possibly damaging	Het
Akap9	T	A	5: 4,012,266 (GRCm39)	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Anxa2	A	T	9: 69,393,812 (GRCm39)	M217L	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Btaf1	A	G	19: 36,958,478 (GRCm39)	D665G	probably benign	Het
Cdc42bpg	T	A	19: 6,361,221 (GRCm39)	V282E	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,577,530 (GRCm39)	L92H	probably damaging	Het
Cep104	T	A	4: 154,072,883 (GRCm39)	D380E	probably damaging	Het
Cfap74	T	A	4: 155,548,059 (GRCm39)		probably benign	Het
Chd1	A	T	17: 17,598,079 (GRCm39)	E55D	probably benign	Het
Cldnd2	T	A	7: 43,091,613 (GRCm39)	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,393,299 (GRCm39)	A108S	probably benign	Het
Cog7	T	C	7: 121,563,467 (GRCm39)	D215G	probably benign	Het
Col9a3	G	A	2: 180,252,474 (GRCm39)	E373K	probably damaging	Het
Deptor	C	A	15: 55,044,406 (GRCm39)	H191N	probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,809,333 (GRCm39)	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,994,035 (GRCm39)	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,323,056 (GRCm39)	N521K	probably benign	Het
Efhb	G	A	17: 53,733,272 (GRCm39)	T533I	probably damaging	Het
Ercc4	A	T	16: 12,965,471 (GRCm39)	H701L	probably damaging	Het
Ern1	A	T	11: 106,325,676 (GRCm39)		probably benign	Het
Etfb	T	C	7: 43,093,624 (GRCm39)	V17A	probably damaging	Het
Evc	T	A	5: 37,481,141 (GRCm39)	M235L	probably benign	Het
Fbxw22	T	C	9: 109,207,937 (GRCm39)	I445V	probably benign	Het
Fmnl2	A	G	2: 53,007,081 (GRCm39)	T764A	possibly damaging	Het
Fto	T	A	8: 92,136,342 (GRCm39)	D205E	probably damaging	Het
Galntl6	G	A	8: 58,880,847 (GRCm39)	P147L	probably damaging	Het
Gm6871	T	C	7: 41,196,173 (GRCm39)	I39V	probably benign	Het
Gpr83	A	G	9: 14,777,470 (GRCm39)		probably benign	Het
Gucy1a2	A	T	9: 3,759,424 (GRCm39)	H410L	probably benign	Het
Helb	T	C	10: 119,930,193 (GRCm39)		probably null	Het
Ifi214	T	C	1: 173,354,157 (GRCm39)	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,571,721 (GRCm39)	I245M	probably benign	Het
Igdcc3	A	G	9: 65,089,279 (GRCm39)	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,231,252 (GRCm39)		probably benign	Het
Igkv4-50	T	C	6: 69,677,984 (GRCm39)	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,333,280 (GRCm39)	I74N	probably damaging	Het
Iho1	A	G	9: 108,282,584 (GRCm39)	V368A	probably benign	Het
Kbtbd7	T	C	14: 79,666,240 (GRCm39)	*691Q	probably null	Het
Khnyn	T	A	14: 56,123,946 (GRCm39)		probably null	Het
Kif26a	G	A	12: 112,142,007 (GRCm39)	A754T	probably benign	Het
Llgl1	T	A	11: 60,597,051 (GRCm39)	L194*	probably null	Het
Map3k12	G	T	15: 102,409,717 (GRCm39)	T686N	probably benign	Het
Myo18a	C	A	11: 77,720,585 (GRCm39)	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,240,030 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,297,403 (GRCm39)	Q406R	possibly damaging	Het
Or10g9b	A	T	9: 39,917,564 (GRCm39)	I227N	probably damaging	Het
Or11g2	T	A	14: 50,856,026 (GRCm39)	C116S	probably benign	Het
Or1ad6	G	A	11: 50,860,093 (GRCm39)	V83M	possibly damaging	Het
Or2i1	T	C	17: 37,507,915 (GRCm39)	T315A	probably damaging	Het
Or2n1e	T	A	17: 38,586,438 (GRCm39)	Y259N	probably damaging	Het
Or8b12	A	T	9: 37,657,831 (GRCm39)	T134S	probably benign	Het
Ostm1	C	T	10: 42,554,975 (GRCm39)		probably benign	Het
Pabpc1	A	T	15: 36,599,528 (GRCm39)	V389E	probably benign	Het
Pank4	A	T	4: 155,055,847 (GRCm39)	M291L	probably benign	Het
Pex6	A	G	17: 47,033,214 (GRCm39)	D579G	probably benign	Het
Pex6	A	G	17: 47,035,633 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,601,764 (GRCm39)	T73M	probably damaging	Het
Pkp4	G	A	2: 59,165,276 (GRCm39)		probably null	Het
Plekhg1	T	A	10: 3,907,506 (GRCm39)	S808T	probably benign	Het
Plk5	A	T	10: 80,194,631 (GRCm39)	H118L	probably damaging	Het
Pnlip	T	C	19: 58,664,919 (GRCm39)	I249T	probably benign	Het
Ptov1	T	C	7: 44,516,533 (GRCm39)	D134G	probably benign	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,609 (GRCm39)	S1566R	probably benign	Het
Pum1	T	C	4: 130,445,504 (GRCm39)	S158P	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Ros1	A	C	10: 52,018,325 (GRCm39)	W778G	probably damaging	Het
Ryr2	A	T	13: 11,592,795 (GRCm39)	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,419,895 (GRCm39)	V553I	probably benign	Het
Samd4b	G	A	7: 28,106,088 (GRCm39)	R377W	probably benign	Het
Selenoo	A	G	15: 88,983,531 (GRCm39)	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,250,638 (GRCm39)	S22G	probably benign	Het
Slc35g2	A	C	9: 100,434,555 (GRCm39)	V372G	probably benign	Het
Slc5a8	T	C	10: 88,761,649 (GRCm39)		probably null	Het
Slc7a7	T	C	14: 54,646,190 (GRCm39)	Y91C	probably damaging	Het
Slc7a9	T	A	7: 35,152,988 (GRCm39)	Y135*	probably null	Het
Slfn1	A	T	11: 83,012,661 (GRCm39)	E259V	probably damaging	Het
Slmap	T	C	14: 26,189,690 (GRCm39)	N156S	probably damaging	Het
Smim29	A	G	17: 27,784,244 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,303,133 (GRCm39)	R485S	probably benign	Het
Sptbn2	T	A	19: 4,792,508 (GRCm39)	F1388I	probably damaging	Het
Stac2	C	T	11: 97,930,521 (GRCm39)	G349E	probably damaging	Het
Tigd2	T	A	6: 59,188,400 (GRCm39)	H422Q	probably benign	Het
Tle1	T	C	4: 72,043,256 (GRCm39)	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,186,478 (GRCm39)		probably null	Het
Tns3	C	T	11: 8,400,986 (GRCm39)	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trank1	T	C	9: 111,219,478 (GRCm39)	F2072L	probably damaging	Het
Trim6	T	C	7: 103,881,855 (GRCm39)	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,952,366 (GRCm39)	S541P	probably damaging	Het
Trpv4	T	C	5: 114,760,814 (GRCm39)	D732G	possibly damaging	Het
Tsc2	C	A	17: 24,822,249 (GRCm39)	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,656,473 (GRCm39)	V257E	probably benign	Het
Ttn	A	T	2: 76,773,355 (GRCm39)	M2395K	unknown	Het
Ubd	A	C	17: 37,506,593 (GRCm39)	T160P	probably benign	Het
Ubr7	A	G	12: 102,735,485 (GRCm39)	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,229,397 (GRCm39)	Y156*	probably null	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Urod	G	A	4: 116,848,870 (GRCm39)	A92V	possibly damaging	Het
Utp20	T	C	10: 88,590,382 (GRCm39)	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,254 (GRCm39)	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,639,859 (GRCm39)	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990 (GRCm39)	D172G	probably benign	Het
Zfhx3	A	G	8: 109,682,716 (GRCm39)	Q3385R	unknown	Het
Zfp229	C	T	17: 21,964,267 (GRCm39)	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,818,033 (GRCm39)	C653S	probably damaging	Het
Zp2	C	A	7: 119,737,343 (GRCm39)	V282L	probably damaging	Het

Other mutations in Ankrd28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Ankrd28	APN	14	31,465,322 (GRCm39)	missense	possibly damaging	0.94
IGL01335:Ankrd28	APN	14	31,423,981 (GRCm39)	missense	probably damaging	0.99
IGL01564:Ankrd28	APN	14	31,477,724 (GRCm39)	missense	probably damaging	1.00
IGL01624:Ankrd28	APN	14	31,432,814 (GRCm39)	missense	probably benign	0.00
IGL01987:Ankrd28	APN	14	31,500,931 (GRCm39)	missense	probably damaging	1.00
IGL02100:Ankrd28	APN	14	31,449,582 (GRCm39)	unclassified	probably benign
IGL02307:Ankrd28	APN	14	31,455,665 (GRCm39)	missense	probably damaging	1.00
IGL02656:Ankrd28	APN	14	31,424,197 (GRCm39)	missense	possibly damaging	0.94
IGL03069:Ankrd28	APN	14	31,477,743 (GRCm39)	nonsense	probably null
G1citation:Ankrd28	UTSW	14	31,458,797 (GRCm39)	critical splice acceptor site	probably null
R0038:Ankrd28	UTSW	14	31,429,992 (GRCm39)	missense	probably damaging	0.99
R0038:Ankrd28	UTSW	14	31,429,992 (GRCm39)	missense	probably damaging	0.99
R0124:Ankrd28	UTSW	14	31,449,698 (GRCm39)	missense	probably damaging	1.00
R0347:Ankrd28	UTSW	14	31,423,979 (GRCm39)	makesense	probably null
R0452:Ankrd28	UTSW	14	31,470,695 (GRCm39)	missense	probably damaging	1.00
R0685:Ankrd28	UTSW	14	31,465,407 (GRCm39)	unclassified	probably benign
R0751:Ankrd28	UTSW	14	31,486,225 (GRCm39)	missense	probably damaging	1.00
R1349:Ankrd28	UTSW	14	31,467,218 (GRCm39)	missense	probably benign	0.05
R1372:Ankrd28	UTSW	14	31,467,218 (GRCm39)	missense	probably benign	0.05
R1695:Ankrd28	UTSW	14	31,429,201 (GRCm39)	missense	probably damaging	1.00
R1888:Ankrd28	UTSW	14	31,453,982 (GRCm39)	splice site	probably benign
R1938:Ankrd28	UTSW	14	31,427,233 (GRCm39)	missense	possibly damaging	0.74
R2001:Ankrd28	UTSW	14	31,467,293 (GRCm39)	missense	possibly damaging	0.94
R2162:Ankrd28	UTSW	14	31,430,719 (GRCm39)	missense	probably damaging	1.00
R2352:Ankrd28	UTSW	14	31,432,904 (GRCm39)	missense	probably benign	0.05
R2357:Ankrd28	UTSW	14	31,486,251 (GRCm39)	nonsense	probably null
R3545:Ankrd28	UTSW	14	31,437,217 (GRCm39)	missense	probably benign	0.13
R3548:Ankrd28	UTSW	14	31,437,217 (GRCm39)	missense	probably benign	0.13
R3710:Ankrd28	UTSW	14	31,470,808 (GRCm39)	splice site	probably benign
R4282:Ankrd28	UTSW	14	31,467,182 (GRCm39)	missense	possibly damaging	0.74
R4501:Ankrd28	UTSW	14	31,428,753 (GRCm39)	missense	probably damaging	0.97
R4513:Ankrd28	UTSW	14	31,465,242 (GRCm39)	missense	probably damaging	1.00
R4658:Ankrd28	UTSW	14	31,432,825 (GRCm39)	missense	probably damaging	1.00
R4732:Ankrd28	UTSW	14	31,477,698 (GRCm39)	missense	probably benign	0.43
R4733:Ankrd28	UTSW	14	31,477,698 (GRCm39)	missense	probably benign	0.43
R4776:Ankrd28	UTSW	14	31,454,011 (GRCm39)	missense	probably damaging	1.00
R4801:Ankrd28	UTSW	14	31,458,787 (GRCm39)	missense	probably damaging	1.00
R4802:Ankrd28	UTSW	14	31,458,787 (GRCm39)	missense	probably damaging	1.00
R5279:Ankrd28	UTSW	14	31,456,963 (GRCm39)	missense	probably damaging	0.99
R5633:Ankrd28	UTSW	14	31,457,022 (GRCm39)	missense	probably damaging	1.00
R5809:Ankrd28	UTSW	14	31,465,311 (GRCm39)	missense	probably benign	0.19
R5959:Ankrd28	UTSW	14	31,451,879 (GRCm39)	missense	probably benign	0.16
R6228:Ankrd28	UTSW	14	31,429,177 (GRCm39)	missense	probably damaging	1.00
R6358:Ankrd28	UTSW	14	31,432,821 (GRCm39)	missense	probably damaging	1.00
R6533:Ankrd28	UTSW	14	31,454,041 (GRCm39)	missense	possibly damaging	0.49
R6598:Ankrd28	UTSW	14	31,430,896 (GRCm39)	missense	probably damaging	1.00
R6822:Ankrd28	UTSW	14	31,458,797 (GRCm39)	critical splice acceptor site	probably null
R7352:Ankrd28	UTSW	14	31,429,998 (GRCm39)	missense	probably damaging	1.00
R7396:Ankrd28	UTSW	14	31,424,159 (GRCm39)	missense	probably benign	0.00
R7462:Ankrd28	UTSW	14	31,500,886 (GRCm39)	missense	probably benign	0.40
R7517:Ankrd28	UTSW	14	31,437,331 (GRCm39)	missense	possibly damaging	0.65
R7629:Ankrd28	UTSW	14	31,437,221 (GRCm39)	missense	probably benign	0.00
R7783:Ankrd28	UTSW	14	31,428,770 (GRCm39)	missense	probably damaging	0.99
R7981:Ankrd28	UTSW	14	31,424,114 (GRCm39)	missense	probably benign	0.08
R8401:Ankrd28	UTSW	14	31,467,251 (GRCm39)	missense	probably damaging	1.00
R8483:Ankrd28	UTSW	14	31,457,048 (GRCm39)	splice site	probably null
R8752:Ankrd28	UTSW	14	31,477,699 (GRCm39)	start gained	probably benign
R8946:Ankrd28	UTSW	14	31,430,083 (GRCm39)	missense	probably damaging	1.00
R8963:Ankrd28	UTSW	14	31,477,698 (GRCm39)	missense	probably benign	0.06
R9064:Ankrd28	UTSW	14	31,454,005 (GRCm39)	missense	probably damaging	1.00
R9181:Ankrd28	UTSW	14	31,470,627 (GRCm39)	missense	probably damaging	1.00
R9231:Ankrd28	UTSW	14	31,429,234 (GRCm39)	missense	possibly damaging	0.91
RF010:Ankrd28	UTSW	14	31,500,943 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCAGAAATAAGGTTGTCTACTC -3'
(R):5'- TGACTTTACCTTGAGTATGCTCTG -3'

Sequencing Primer
(F):5'- TGTCTACTCTCTTAAGAATCTGACAC -3'
(R):5'- GTTGCAGGAGCTAGAGTT -3'

Posted On

2015-11-11