Mutagenetix > Incidental Mutation

Incidental Mutation 'R1323:Ankrd44'

172443

Institutional Source

Beutler Lab

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

MMRRC Submission

039389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R1323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54684499-54965546 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 54805609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

noncoding transcript
Transcript: ENSMUST00000158620

Predicted Effect

probably benign
Transcript: ENSMUST00000177679

SMART Domains

Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331

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

noncoding transcript
Transcript: ENSMUST00000180189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180327

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188243

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.1%
20x: 88.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,240,937 (GRCm39)	F933L	possibly damaging	Het
Abcc8	T	G	7: 45,766,786 (GRCm39)	Q998P	probably benign	Het
Akr1e1	C	T	13: 4,657,547 (GRCm39)	G17E	probably damaging	Het
D630045J12Rik	T	C	6: 38,125,443 (GRCm39)	I1524V	probably damaging	Het
Elovl1	T	C	4: 118,288,851 (GRCm39)	L103P	possibly damaging	Het
Emsy	T	C	7: 98,259,864 (GRCm39)		probably benign	Het
Fam171a2	T	G	11: 102,334,951 (GRCm39)	D62A	probably damaging	Het
Firrm	C	A	1: 163,783,030 (GRCm39)		probably benign	Het
Frzb	G	A	2: 80,243,720 (GRCm39)	P320S	probably benign	Het
Fsip2	G	T	2: 82,816,096 (GRCm39)	G3943V	probably damaging	Het
Ftdc1	G	A	16: 58,437,278 (GRCm39)	P10L	possibly damaging	Het
Grm8	A	G	6: 28,125,973 (GRCm39)	L51P	probably damaging	Het
H2af-ps2	T	G	13: 51,357,100 (GRCm39)		noncoding transcript	Het
Hnf4g	T	C	3: 3,699,281 (GRCm39)	S4P	possibly damaging	Het
Megf8	T	A	7: 25,059,527 (GRCm39)		probably null	Het
Mtnr1b	A	G	9: 15,774,432 (GRCm39)	F209S	probably damaging	Het
Nckipsd	G	A	9: 108,689,778 (GRCm39)	R313Q	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Paqr5	C	T	9: 61,868,810 (GRCm39)		probably null	Het
S100a14	T	C	3: 90,435,043 (GRCm39)	V18A	probably damaging	Het
Sycp2	A	T	2: 177,989,414 (GRCm39)	S1441R	possibly damaging	Het
Vmn2r101	G	A	17: 19,832,313 (GRCm39)	D770N	probably damaging	Het
Zfp600	A	G	4: 146,133,261 (GRCm39)	Y643C	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
IGL01380:Ankrd44	APN	1	54,766,724 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

Posted On

2014-04-24