Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Ankrd44'

558731

Institutional Source

Beutler Lab

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54645340-54926387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54649440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 212 (N212K)

Gene Model

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

AlphaFold

B2RXR6

Predicted Effect

probably benign
Transcript: ENSMUST00000044359

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331

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: 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

probably benign
Transcript: ENSMUST00000179030

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,628,461	I130T	possibly damaging	Het
Adam24	T	A	8: 40,680,000	L169*	probably null	Het
Als2	A	T	1: 59,207,812	I556N	probably damaging	Het
Anpep	T	C	7: 79,840,988	D260G	probably benign	Het
Arhgap17	A	T	7: 123,285,358		probably null	Het
Atad2	C	T	15: 58,117,293	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,819,950	M696K	probably benign	Het
Atp13a2	A	G	4: 140,999,151	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,943,672	D29G	possibly damaging	Het
Baz2a	C	T	10: 128,124,457	R1514W	probably damaging	Het
Cep250	T	A	2: 155,973,455	L631*	probably null	Het
Clec4a3	T	C	6: 122,964,292	I82T	probably benign	Het
Csmd3	T	A	15: 47,590,774	I2648F		Het
Cul5	A	G	9: 53,644,526	F247L	probably benign	Het
D430042O09Rik	T	C	7: 125,866,327	V1317A	probably benign	Het
Dnajc24	A	T	2: 105,970,462	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,694,993	V1848E	probably damaging	Het
Dspp	A	G	5: 104,174,066	T14A	probably benign	Het
Fam166a	G	A	2: 25,220,240	V55I	probably damaging	Het
Fam196b	G	T	11: 34,402,359	V134F	probably damaging	Het
Gm7298	T	G	6: 121,785,896	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,709,163	S62R	unknown	Het
Gtsf1	T	G	15: 103,419,961	N130T	probably benign	Het
Heatr5a	C	A	12: 51,925,142	S755I	probably damaging	Het
Hrc	A	G	7: 45,336,261	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,233,510	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,835	S256G	probably benign	Het
Ipo13	A	G	4: 117,903,884	S546P	possibly damaging	Het
Kif24	A	G	4: 41,395,085	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,671,074	V176A	probably benign	Het
Lgi1	T	C	19: 38,306,285	Y502H	probably damaging	Het
Liph	T	A	16: 21,976,328	D178V	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mak16	A	C	8: 31,166,574	S42A	probably benign	Het
Mamdc4	T	C	2: 25,568,965	I269V	probably benign	Het
Mapk8ip3	A	T	17: 24,901,754	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788	S889T	unknown	Het
Npy6r	A	G	18: 44,276,484	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,356,147	T489P	possibly damaging	Het
Olfr1102	G	A	2: 87,002,535	V189I	probably benign	Het
Olfr187	T	A	16: 59,035,933	D268V	probably benign	Het
Olfr69	G	A	7: 103,767,975	Q141*	probably null	Het
Otof	G	C	5: 30,383,534	T887S	possibly damaging	Het
Papola	T	C	12: 105,807,184	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,715,630	H1421R	probably benign	Het
Plpp5	T	C	8: 25,720,579	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,518,337	I154L	probably benign	Het
Prr18	A	C	17: 8,341,909	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,477,259	S198F	possibly damaging	Het
Qars	T	C	9: 108,515,123	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,636,752	R185*	probably null	Het
Scn2a	C	T	2: 65,748,853	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,080,776	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,258,148	T175A	probably damaging	Het
Skiv2l	T	C	17: 34,839,464	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,667,511	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,719,482	A312V	possibly damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spcs1	G	A	14: 31,000,481	S127F	possibly damaging	Het
Speg	T	C	1: 75,422,383	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,418,056	I423F	probably damaging	Het
Synj2	T	A	17: 6,026,479	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,055,660	D45V	probably damaging	Het
Tcf3	C	A	10: 80,421,599	V11F	unknown	Het
Tead1	A	T	7: 112,841,937	Q91L	probably benign	Het
Tgm5	T	A	2: 121,085,768		probably benign	Het
Tgoln1	C	T	6: 72,616,045	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,827,539	N445K	probably benign	Het
Ttn	G	C	2: 76,710,170	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,136,162	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,996,994	L684F	probably damaging	Het
Zfp661	T	C	2: 127,577,536	D228G	probably benign	Het
Zfp738	T	C	13: 67,673,028	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,100,930	D378E	probably damaging	Het
Zswim9	T	A	7: 13,259,997	D744V	possibly damaging	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
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
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'- GCCCTCTTTTGGTTAGACTGAC -3'
(R):5'- TTATGCCCAGGTCATACCCC -3'

Sequencing Primer
(F):5'- GAAGCTTGGCCTCAAATGTC -3'
(R):5'- TCATACCCCGGCCCTGG -3'

Posted On

2019-06-26