Mutagenetix > Incidental Mutation

Incidental Mutation 'R8963:Ankrd28'

682517

Institutional Source

Beutler Lab

Gene Symbol

Ankrd28

Ensembl Gene

ENSMUSG00000014496

Gene Name

ankyrin repeat domain 28

Synonyms

E430019N21Rik

MMRRC Submission

068797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R8963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31420725-31552608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31477698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 115 (C115R)

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: C85R

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

SMART Domains

Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: C85R

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

probably benign
Transcript: ENSMUST00000227089

Predicted Effect

probably benign
Transcript: ENSMUST00000227863
AA Change: C115R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000228037
AA Change: C57R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,902,963 (GRCm39)	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,443 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,567,588 (GRCm39)	V5195E	probably benign	Het
Adora2b	C	T	11: 62,139,983 (GRCm39)	A19V	possibly damaging	Het
Ankrd35	T	A	3: 96,587,003 (GRCm39)	L106*	probably null	Het
Ankrd44	G	A	1: 54,801,538 (GRCm39)	A263V	probably damaging	Het
Apol7b	T	C	15: 77,308,120 (GRCm39)	K125R	possibly damaging	Het
Cacna1c	A	T	6: 118,719,232 (GRCm39)	L245*	probably null	Het
Cbll1	A	T	12: 31,538,199 (GRCm39)	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,311,641 (GRCm39)	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Cfap54	C	A	10: 92,864,562 (GRCm39)	G124*	probably null	Het
Chml	A	T	1: 175,514,601 (GRCm39)	L440H	probably damaging	Het
Chrnd	A	T	1: 87,122,603 (GRCm39)	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,498,677 (GRCm39)	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,926 (GRCm39)	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,136,519 (GRCm39)	R425L	probably damaging	Het
Daam1	A	G	12: 71,992,018 (GRCm39)	T279A	unknown	Het
Ebf2	G	T	14: 67,665,554 (GRCm39)	V571F	probably benign	Het
Elapor2	T	A	5: 9,487,792 (GRCm39)	N559K	probably damaging	Het
Elavl4	A	T	4: 110,063,776 (GRCm39)	I275N	probably damaging	Het
F11r	A	G	1: 171,288,505 (GRCm39)	Q116R	probably benign	Het
Foxred2	T	A	15: 77,829,805 (GRCm39)	D580V	probably benign	Het
Gatad1	A	C	5: 3,691,544 (GRCm39)	L4R	probably damaging	Het
Gcn1	T	A	5: 115,727,153 (GRCm39)	M670K	probably benign	Het
Greb1	A	T	12: 16,774,885 (GRCm39)	F171I	probably damaging	Het
Grin2b	A	G	6: 136,021,007 (GRCm39)	V98A	probably damaging	Het
Helz2	A	T	2: 180,871,407 (GRCm39)	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564 (GRCm39)		probably benign	Het
Ighv1-11	C	T	12: 114,575,864 (GRCm39)	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,741,754 (GRCm39)	S34T	probably damaging	Het
Il27ra	T	A	8: 84,767,711 (GRCm39)	N71Y	probably damaging	Het
Iqca1	G	T	1: 90,067,649 (GRCm39)	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,324,864 (GRCm39)	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,809,519 (GRCm39)	L13S	probably damaging	Het
Kif26b	G	A	1: 178,743,714 (GRCm39)	R1270Q	probably benign	Het
Klhdc2	A	T	12: 69,347,065 (GRCm39)	R77*	probably null	Het
Klra10	A	T	6: 130,249,617 (GRCm39)		probably null	Het
Large1	A	T	8: 73,542,612 (GRCm39)	I704N	probably damaging	Het
Lrp1b	G	A	2: 40,888,196 (GRCm39)	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,255,001 (GRCm39)	M212L	probably benign	Het
Mab21l1	A	G	3: 55,690,348 (GRCm39)		probably benign	Het
Map4k4	A	T	1: 40,039,740 (GRCm39)	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Me1	A	T	9: 86,480,844 (GRCm39)	F354I	probably damaging	Het
Nlrp1b	A	G	11: 71,108,658 (GRCm39)	V281A	probably damaging	Het
Nrip2	A	G	6: 128,385,288 (GRCm39)	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471 (GRCm39)	V203A	probably damaging	Het
Or12e8	T	A	2: 87,187,950 (GRCm39)	I54K	possibly damaging	Het
Or4g17	A	T	2: 111,209,645 (GRCm39)	Q100L	probably damaging	Het
Or4n5	A	T	14: 50,132,509 (GRCm39)	M250K	probably benign	Het
Or8g2	A	G	9: 39,821,495 (GRCm39)	Y132C	probably damaging	Het
P4ha2	T	C	11: 54,004,995 (GRCm39)	F124L	probably benign	Het
Pcdha9	A	T	18: 37,131,750 (GRCm39)	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnd1	G	T	6: 115,949,506 (GRCm39)	S760*	probably null	Het
Polr1b	A	G	2: 128,957,576 (GRCm39)	T544A	probably benign	Het
Polr2g	T	C	19: 8,771,513 (GRCm39)	D153G	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,506,255 (GRCm39)	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,105,739 (GRCm39)	Y285F	probably benign	Het
Ryr3	A	G	2: 112,667,015 (GRCm39)		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Sftpd	A	G	14: 40,905,001 (GRCm39)	V30A	probably benign	Het
Sirt6	A	G	10: 81,462,378 (GRCm39)	V7A	probably benign	Het
Ska1	C	T	18: 74,330,639 (GRCm39)	V188M	probably damaging	Het
Skint8	G	A	4: 111,794,241 (GRCm39)	M210I	probably benign	Het
Slc6a11	A	G	6: 114,202,782 (GRCm39)		probably null	Het
Slc6a2	A	T	8: 93,715,702 (GRCm39)	H280L	probably benign	Het
Sptan1	T	C	2: 29,873,744 (GRCm39)	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,752,135 (GRCm39)	T518S	probably benign	Het
Thoc2l	T	C	5: 104,665,652 (GRCm39)	V58A	probably benign	Het
Tsc22d1	T	C	14: 76,656,266 (GRCm39)	M59T	probably benign	Het
Unc5cl	A	G	17: 48,769,361 (GRCm39)	T282A	probably benign	Het
Vav3	A	G	3: 109,590,229 (GRCm39)	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,315,926 (GRCm39)	V631A	probably damaging	Het
Zfp938	A	T	10: 82,061,287 (GRCm39)	F444L	possibly 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
R4731:Ankrd28	UTSW	14	31,477,698 (GRCm39)	missense	probably benign	0.43
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
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'- CCTTGAGTATGCTCTGTATAAAGGTG -3'

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

Posted On

2021-08-31