Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03008:Ankrd44'

407636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

54645340-54926387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54766809 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 146 (H146R)

Ref Sequence

ENSEMBL: ENSMUSP00000040327 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044359
AA Change: H146R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: H146R

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: H121R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: H121R

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: H146R

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

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: H146R

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,491,598		probably null	Het
AF529169	A	G	9: 89,596,678	Y772H	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,730,284	M1I	probably null	Het
Bst1	A	G	5: 43,826,262		probably null	Het
Cdh12	A	T	15: 21,480,330	I211F	probably damaging	Het
Cenpj	G	T	14: 56,526,949	D1335E	probably benign	Het
Clpx	G	A	9: 65,322,775	V502I	possibly damaging	Het
Cntnap4	T	C	8: 112,773,590	S505P	probably benign	Het
Cog2	T	C	8: 124,535,392		probably benign	Het
Cped1	A	G	6: 22,233,602	Q819R	probably benign	Het
Cspg4	A	G	9: 56,898,475	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,837,448	R359Q	probably damaging	Het
Cul9	A	G	17: 46,502,697		probably benign	Het
Dab1	G	T	4: 104,727,580	V306F	probably damaging	Het
Dysf	A	G	6: 84,073,894	I438V	probably benign	Het
Eif4g3	G	T	4: 138,120,388	G380W	probably damaging	Het
Exd1	T	A	2: 119,520,381	K466N	probably benign	Het
Eya3	A	C	4: 132,706,983	D325A	probably damaging	Het
Fmn1	A	G	2: 113,365,100	T382A	unknown	Het
Fry	T	A	5: 150,345,556	D106E	possibly damaging	Het
Gm21957	T	A	7: 125,219,561		noncoding transcript	Het
Gm44511	A	G	6: 128,784,096		probably benign	Het
Gm884	T	C	11: 103,620,467	E225G	unknown	Het
Itga4	A	G	2: 79,325,638	I983V	probably benign	Het
Lrpprc	A	T	17: 84,751,247	D5E	probably benign	Het
Ltbp4	G	T	7: 27,324,364	N747K	probably damaging	Het
Mlh3	T	C	12: 85,240,851	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,353,439	C63S	possibly damaging	Het
Myh11	T	A	16: 14,204,753	M1661L	probably benign	Het
Myo1c	T	C	11: 75,658,414	M137T	probably benign	Het
Myocd	A	C	11: 65,187,566	L340V	probably damaging	Het
Napsa	A	T	7: 44,585,796	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,714,589	Q240K	probably benign	Het
Npepps	A	C	11: 97,238,158	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,393,438	E275V	probably benign	Het
Ofd1	T	C	X: 166,409,534	D501G	probably benign	Het
Olfr1310	A	G	2: 112,008,523	I221T	possibly damaging	Het
Olfr228	A	T	2: 86,483,334	M136K	probably damaging	Het
Olfr507	T	G	7: 108,622,283	L157R	probably damaging	Het
Olfr525	T	C	7: 140,323,532	Y278H	probably damaging	Het
P2ry1	A	T	3: 61,003,526	T29S	probably benign	Het
Papss1	T	C	3: 131,585,099	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,752,766	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,821,834	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,876,159	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,653,864	I27T	probably damaging	Het
Rnf10	G	T	5: 115,251,296	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,562,511	S246P	probably damaging	Het
Sertad2	G	T	11: 20,647,798		probably benign	Het
Slc22a27	A	G	19: 7,909,702	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,891,232	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,890,941	F225I	probably benign	Het
Slc6a3	G	A	13: 73,558,285		probably null	Het
Smcr8	A	G	11: 60,778,461	E145G	probably damaging	Het
Spen	A	T	4: 141,476,137	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stag1	A	T	9: 100,776,791	N144Y	probably damaging	Het
Strada	T	C	11: 106,170,957	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r138	A	C	6: 40,613,182	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,826,335	K106*	probably null	Het
Trbv13-1	A	G	6: 41,116,295	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,247,695	V218A	probably benign	Het
Ttn	G	A	2: 76,780,859	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,412,423	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,257,646	M168V	probably benign	Het
Wdr11	T	C	7: 129,606,991		probably benign	Het
Wipf2	T	C	11: 98,892,728		probably benign	Het
Zranb2	T	A	3: 157,546,665		probably null	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
IGL01958:Ankrd44	APN	1	54766966	missense	probably damaging	0.99
IGL02014:Ankrd44	APN	1	54657620	missense	possibly damaging	0.95
IGL02745:Ankrd44	APN	1	54766791	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
RF021:Ankrd44	UTSW	1	54778312	missense	probably damaging	1.00
Z1088:Ankrd44	UTSW	1	54658982	missense	probably damaging	1.00

Posted On

2016-08-02