Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Ankrd44'

78790

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: 0.155) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

54684499-54965546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54766724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 488 (M488K)

Ref Sequence

ENSEMBL: ENSMUSP00000137616 (fasta)

Gene Model

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

AlphaFold

B2RXR6

Predicted Effect

probably benign
Transcript: ENSMUST00000044359
AA Change: M506K

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

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: M506K

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
AA Change: M303K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: M303K

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: ENSMUST00000178685

Predicted Effect

probably benign
Transcript: ENSMUST00000179030
AA Change: M488K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: M488K

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: ENSMUST00000179242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190007

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	probably damaging	Het

Other mutations in Ankrd44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Ankrd44	APN	1	54,701,806 (GRCm39)	splice site	probably benign
IGL00839:Ankrd44	APN	1	54,706,594 (GRCm39)	missense	probably benign	0.27
IGL01145:Ankrd44	APN	1	54,801,418 (GRCm39)	critical splice donor site	probably null
IGL01415:Ankrd44	APN	1	54,792,087 (GRCm39)	missense	probably damaging	1.00
IGL01958:Ankrd44	APN	1	54,806,125 (GRCm39)	missense	probably damaging	0.99
IGL02014:Ankrd44	APN	1	54,696,779 (GRCm39)	missense	possibly damaging	0.95
IGL02745:Ankrd44	APN	1	54,805,950 (GRCm39)	missense	probably damaging	1.00
IGL03008:Ankrd44	APN	1	54,805,968 (GRCm39)	missense	probably damaging	1.00
wilderness	UTSW	1	54,774,193 (GRCm39)	synonymous	silent
PIT4812001:Ankrd44	UTSW	1	54,762,197 (GRCm39)	nonsense	probably null
R0416:Ankrd44	UTSW	1	54,782,498 (GRCm39)	missense	possibly damaging	0.63
R0554:Ankrd44	UTSW	1	54,802,917 (GRCm39)	missense	probably benign	0.00
R0575:Ankrd44	UTSW	1	54,801,469 (GRCm39)	missense	probably damaging	1.00
R1323:Ankrd44	UTSW	1	54,805,609 (GRCm39)	splice site	probably benign
R1605:Ankrd44	UTSW	1	54,867,781 (GRCm39)	missense	probably benign	0.36
R2032:Ankrd44	UTSW	1	54,762,168 (GRCm39)	splice site	probably null
R4458:Ankrd44	UTSW	1	54,801,550 (GRCm39)	missense	possibly damaging	0.92
R4610:Ankrd44	UTSW	1	54,805,907 (GRCm39)	intron	probably benign
R4727:Ankrd44	UTSW	1	54,706,576 (GRCm39)	missense	probably benign	0.05
R4780:Ankrd44	UTSW	1	54,802,916 (GRCm39)	missense	probably benign	0.00
R4801:Ankrd44	UTSW	1	54,801,475 (GRCm39)	missense	probably damaging	1.00
R4802:Ankrd44	UTSW	1	54,801,475 (GRCm39)	missense	probably damaging	1.00
R4810:Ankrd44	UTSW	1	54,774,302 (GRCm39)	intron	probably benign
R4961:Ankrd44	UTSW	1	54,703,071 (GRCm39)	missense	probably damaging	1.00
R5053:Ankrd44	UTSW	1	54,774,248 (GRCm39)	nonsense	probably null
R5093:Ankrd44	UTSW	1	54,802,877 (GRCm39)	missense	probably damaging	1.00
R5155:Ankrd44	UTSW	1	54,817,489 (GRCm39)	missense	probably benign	0.43
R5248:Ankrd44	UTSW	1	54,706,539 (GRCm39)	missense	probably damaging	1.00
R5306:Ankrd44	UTSW	1	54,965,362 (GRCm39)	utr 5 prime	probably benign
R5595:Ankrd44	UTSW	1	54,774,209 (GRCm39)	missense	probably damaging	1.00
R5595:Ankrd44	UTSW	1	54,801,506 (GRCm39)	missense	probably damaging	1.00
R6288:Ankrd44	UTSW	1	54,802,922 (GRCm39)	missense	probably damaging	1.00
R6332:Ankrd44	UTSW	1	54,801,432 (GRCm39)	missense	probably damaging	1.00
R6453:Ankrd44	UTSW	1	54,696,863 (GRCm39)	splice site	probably null
R6610:Ankrd44	UTSW	1	54,694,246 (GRCm39)	missense	probably benign	0.02
R6699:Ankrd44	UTSW	1	54,801,604 (GRCm39)	missense	probably damaging	1.00
R6905:Ankrd44	UTSW	1	54,831,653 (GRCm39)	missense	probably damaging	1.00
R7173:Ankrd44	UTSW	1	54,805,550 (GRCm39)	missense	probably damaging	1.00
R7178:Ankrd44	UTSW	1	54,688,599 (GRCm39)	missense
R7219:Ankrd44	UTSW	1	54,806,069 (GRCm39)	missense	probably damaging	1.00
R7276:Ankrd44	UTSW	1	54,774,239 (GRCm39)	missense	probably benign	0.05
R7283:Ankrd44	UTSW	1	54,768,955 (GRCm39)	missense	probably damaging	1.00
R7414:Ankrd44	UTSW	1	54,706,539 (GRCm39)	missense	probably damaging	1.00
R7490:Ankrd44	UTSW	1	54,687,459 (GRCm39)	missense	probably benign	0.03
R7501:Ankrd44	UTSW	1	54,688,522 (GRCm39)	missense
R7515:Ankrd44	UTSW	1	54,805,514 (GRCm39)	missense	probably damaging	1.00
R7527:Ankrd44	UTSW	1	54,687,483 (GRCm39)	missense	probably benign	0.08
R7807:Ankrd44	UTSW	1	54,831,635 (GRCm39)	missense	probably damaging	1.00
R8164:Ankrd44	UTSW	1	54,703,138 (GRCm39)	missense	probably damaging	1.00
R8247:Ankrd44	UTSW	1	54,792,102 (GRCm39)	missense	probably damaging	1.00
R8408:Ankrd44	UTSW	1	54,762,257 (GRCm39)	missense	probably benign	0.00
R8859:Ankrd44	UTSW	1	54,706,680 (GRCm39)	missense	possibly damaging	0.94
R8963:Ankrd44	UTSW	1	54,801,538 (GRCm39)	missense	probably damaging	1.00
R8971:Ankrd44	UTSW	1	54,692,952 (GRCm39)	missense	probably benign	0.01
R8987:Ankrd44	UTSW	1	54,700,349 (GRCm39)	nonsense	probably null
R9354:Ankrd44	UTSW	1	54,687,438 (GRCm39)	makesense	probably null
RF021:Ankrd44	UTSW	1	54,817,471 (GRCm39)	missense	probably damaging	1.00
Z1088:Ankrd44	UTSW	1	54,698,141 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05