Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Ankrd44'

181465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

54645340-54926387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54766966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 94 (I94V)

Ref Sequence

ENSEMBL: ENSMUSP00000137616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044359] [ENSMUST00000177679] [ENSMUST00000178226] [ENSMUST00000179030]

AlphaFold

B2RXR6

Predicted Effect

probably benign
Transcript: ENSMUST00000044359
AA Change: I94V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: I94V

Domain	Start	End	E-Value	Type
ANK	7	36	2.55e2	SMART
ANK	40	69	3.23e-4	SMART
ANK	73	102	1.12e-3	SMART
ANK	106	135	1.65e-1	SMART
ANK	139	168	1.6e-8	SMART
ANK	172	201	4.97e-5	SMART
ANK	205	234	1.1e-6	SMART
ANK	238	267	9.7e-8	SMART
ANK	271	301	1.11e-2	SMART
ANK	305	334	9.35e-1	SMART
ANK	338	367	2.02e-5	SMART
ANK	371	400	5.98e1	SMART
ANK	422	451	7.13e-6	SMART
ANK	455	484	1.18e-6	SMART
ANK	488	545	1.17e2	SMART
ANK	549	579	3.31e-1	SMART
ANK	584	613	3.91e-3	SMART
ANK	617	646	1.43e-5	SMART
ANK	651	680	2.73e-2	SMART
ANK	687	716	5.41e-6	SMART
ANK	720	749	5.53e-3	SMART
ANK	753	785	1.52e0	SMART
ANK	789	819	9.27e-5	SMART
ANK	821	851	1.52e0	SMART
ANK	856	885	6.02e-4	SMART
ANK	889	919	3.08e-1	SMART
ANK	923	955	3.36e-2	SMART
ANK	959	988	6.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158620

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177679
AA Change: I69V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: I69V

Domain	Start	End	E-Value	Type
ANK	15	44	3.23e-4	SMART
ANK	48	77	1.12e-3	SMART
ANK	81	110	1.65e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177919

Predicted Effect

probably benign
Transcript: ENSMUST00000178226

SMART Domains

Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331

Domain	Start	End	E-Value	Type
ANK	2	31	1.1e-6	SMART
ANK	35	64	9.7e-8	SMART
ANK	68	98	1.11e-2	SMART
ANK	102	131	9.35e-1	SMART
ANK	135	164	2.02e-5	SMART
ANK	168	197	5.98e1	SMART
ANK	219	248	7.13e-6	SMART
ANK	252	281	1.18e-6	SMART
ANK	285	342	1.17e2	SMART
ANK	346	376	3.31e-1	SMART
ANK	381	410	3.91e-3	SMART
ANK	414	443	1.43e-5	SMART
ANK	448	477	2.73e-2	SMART
ANK	484	513	5.41e-6	SMART
ANK	517	546	5.53e-3	SMART
ANK	550	582	1.52e0	SMART
ANK	586	616	9.27e-5	SMART
ANK	618	648	1.52e0	SMART
ANK	653	682	6.02e-4	SMART
ANK	686	716	3.08e-1	SMART
ANK	720	752	3.36e-2	SMART
ANK	756	785	6.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178935

Predicted Effect

probably damaging
Transcript: ENSMUST00000179030
AA Change: I94V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: I94V

Domain	Start	End	E-Value	Type
ANK	7	36	2.55e2	SMART
ANK	40	69	3.23e-4	SMART
ANK	73	102	1.12e-3	SMART
ANK	106	135	1.65e-1	SMART
ANK	139	168	1.6e-8	SMART
ANK	172	201	4.97e-5	SMART
ANK	205	234	1.1e-6	SMART
ANK	238	267	9.7e-8	SMART
ANK	271	301	1.11e-2	SMART
ANK	305	334	9.35e-1	SMART
ANK	338	367	2.02e-5	SMART
ANK	371	400	3.26e0	SMART
ANK	404	433	7.13e-6	SMART
ANK	437	466	1.18e-6	SMART
ANK	470	527	1.17e2	SMART
ANK	531	561	3.31e-1	SMART
ANK	566	595	3.91e-3	SMART
ANK	599	628	1.43e-5	SMART
ANK	633	662	2.73e-2	SMART
ANK	669	698	5.41e-6	SMART
ANK	702	731	5.53e-3	SMART
ANK	735	767	1.52e0	SMART
ANK	771	801	9.27e-5	SMART
ANK	803	833	1.52e0	SMART
ANK	838	867	6.02e-4	SMART
ANK	871	901	3.08e-1	SMART
ANK	905	937	3.36e-2	SMART
ANK	941	970	6.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188243

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Ankrd44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Ankrd44	APN	1	54662647	splice site	probably benign
IGL00839:Ankrd44	APN	1	54667435	missense	probably benign	0.27
IGL01145:Ankrd44	APN	1	54762259	critical splice donor site	probably null
IGL01380:Ankrd44	APN	1	54727565	missense	probably benign	0.00
IGL01415:Ankrd44	APN	1	54752928	missense	probably damaging	1.00
IGL02014:Ankrd44	APN	1	54657620	missense	possibly damaging	0.95
IGL02745:Ankrd44	APN	1	54766791	missense	probably damaging	1.00
IGL03008:Ankrd44	APN	1	54766809	missense	probably damaging	1.00
wilderness	UTSW	1	54735034	synonymous	silent
PIT4812001:Ankrd44	UTSW	1	54723038	nonsense	probably null
R0416:Ankrd44	UTSW	1	54743339	missense	possibly damaging	0.63
R0554:Ankrd44	UTSW	1	54763758	missense	probably benign	0.00
R0575:Ankrd44	UTSW	1	54762310	missense	probably damaging	1.00
R1323:Ankrd44	UTSW	1	54766450	splice site	probably benign
R1605:Ankrd44	UTSW	1	54828622	missense	probably benign	0.36
R2032:Ankrd44	UTSW	1	54723009	splice site	probably null
R4458:Ankrd44	UTSW	1	54762391	missense	possibly damaging	0.92
R4610:Ankrd44	UTSW	1	54766748	intron	probably benign
R4727:Ankrd44	UTSW	1	54667417	missense	probably benign	0.05
R4780:Ankrd44	UTSW	1	54763757	missense	probably benign	0.00
R4801:Ankrd44	UTSW	1	54762316	missense	probably damaging	1.00
R4802:Ankrd44	UTSW	1	54762316	missense	probably damaging	1.00
R4810:Ankrd44	UTSW	1	54735143	intron	probably benign
R4961:Ankrd44	UTSW	1	54663912	missense	probably damaging	1.00
R5053:Ankrd44	UTSW	1	54735089	nonsense	probably null
R5093:Ankrd44	UTSW	1	54763718	missense	probably damaging	1.00
R5155:Ankrd44	UTSW	1	54778330	missense	probably benign	0.43
R5248:Ankrd44	UTSW	1	54667380	missense	probably damaging	1.00
R5306:Ankrd44	UTSW	1	54926203	utr 5 prime	probably benign
R5595:Ankrd44	UTSW	1	54735050	missense	probably damaging	1.00
R5595:Ankrd44	UTSW	1	54762347	missense	probably damaging	1.00
R6288:Ankrd44	UTSW	1	54763763	missense	probably damaging	1.00
R6332:Ankrd44	UTSW	1	54762273	missense	probably damaging	1.00
R6453:Ankrd44	UTSW	1	54657704	splice site	probably null
R6610:Ankrd44	UTSW	1	54655087	missense	probably benign	0.02
R6699:Ankrd44	UTSW	1	54762445	missense	probably damaging	1.00
R6905:Ankrd44	UTSW	1	54792494	missense	probably damaging	1.00
R7173:Ankrd44	UTSW	1	54766391	missense	probably damaging	1.00
R7178:Ankrd44	UTSW	1	54649440	missense
R7219:Ankrd44	UTSW	1	54766910	missense	probably damaging	1.00
R7276:Ankrd44	UTSW	1	54735080	missense	probably benign	0.05
R7283:Ankrd44	UTSW	1	54729796	missense	probably damaging	1.00
R7414:Ankrd44	UTSW	1	54667380	missense	probably damaging	1.00
R7490:Ankrd44	UTSW	1	54648300	missense	probably benign	0.03
R7501:Ankrd44	UTSW	1	54649363	missense
R7515:Ankrd44	UTSW	1	54766355	missense	probably damaging	1.00
R7527:Ankrd44	UTSW	1	54648324	missense	probably benign	0.08
R7807:Ankrd44	UTSW	1	54792476	missense	probably damaging	1.00
R8164:Ankrd44	UTSW	1	54663979	missense	probably damaging	1.00
R8247:Ankrd44	UTSW	1	54752943	missense	probably damaging	1.00
R8408:Ankrd44	UTSW	1	54723098	missense	probably benign	0.00
R8859:Ankrd44	UTSW	1	54667521	missense	possibly damaging	0.94
R8963:Ankrd44	UTSW	1	54762379	missense	probably damaging	1.00
R8971:Ankrd44	UTSW	1	54653793	missense	probably benign	0.01
R8987:Ankrd44	UTSW	1	54661190	nonsense	probably null
R9354:Ankrd44	UTSW	1	54648279	makesense	probably null
RF021:Ankrd44	UTSW	1	54778312	missense	probably damaging	1.00
Z1088:Ankrd44	UTSW	1	54658982	missense	probably damaging	1.00

Posted On

2014-05-07