Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Ankrd44'

396627

Institutional Source

Beutler Lab

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54645340-54926387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54778330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 73 (M73K)

Ref Sequence

ENSEMBL: ENSMUSP00000137616 (fasta)

Gene Model

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

AlphaFold

B2RXR6

Predicted Effect

probably benign
Transcript: ENSMUST00000044359
AA Change: M73K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: M73K

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

probably benign
Transcript: ENSMUST00000177679
AA Change: M48K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: M48K

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: ENSMUST00000178905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178935

Predicted Effect

probably benign
Transcript: ENSMUST00000179030
AA Change: M73K

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: M73K

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: ENSMUST00000180327

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGACCCCGTACTATGCTC -3'
(R):5'- CAAGATAGATTTCTGTTGGCCC -3'

Sequencing Primer
(F):5'- GGAACCTCCACCTAACTTTGG -3'
(R):5'- GGCCCCTTTATCCCATATAAAATC -3'

Posted On

2016-06-21