Mutagenetix > Incidental Mutation

Incidental Mutation 'R8963:Ankrd44'

682456

Institutional Source

Beutler Lab

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

MMRRC Submission

068797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54684499-54965546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54801538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 263 (A263V)

Ref Sequence

ENSEMBL: ENSMUSP00000137616 (fasta)

Gene Model

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

AlphaFold

B2RXR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044359
AA Change: A263V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: A263V

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

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

SMART Domains

Protein: ENSMUSP00000136802
Gene: ENSMUSG00000052331
AA Change: A60V

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 damaging
Transcript: ENSMUST00000179030
AA Change: A263V

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

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: A263V

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,902,963 (GRCm39)	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,443 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,567,588 (GRCm39)	V5195E	probably benign	Het
Adora2b	C	T	11: 62,139,983 (GRCm39)	A19V	possibly damaging	Het
Ankrd28	A	G	14: 31,477,698 (GRCm39)	C115R	probably benign	Het
Ankrd35	T	A	3: 96,587,003 (GRCm39)	L106*	probably null	Het
Apol7b	T	C	15: 77,308,120 (GRCm39)	K125R	possibly damaging	Het
Cacna1c	A	T	6: 118,719,232 (GRCm39)	L245*	probably null	Het
Cbll1	A	T	12: 31,538,199 (GRCm39)	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,311,641 (GRCm39)	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Cfap54	C	A	10: 92,864,562 (GRCm39)	G124*	probably null	Het
Chml	A	T	1: 175,514,601 (GRCm39)	L440H	probably damaging	Het
Chrnd	A	T	1: 87,122,603 (GRCm39)	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,498,677 (GRCm39)	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,926 (GRCm39)	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,136,519 (GRCm39)	R425L	probably damaging	Het
Daam1	A	G	12: 71,992,018 (GRCm39)	T279A	unknown	Het
Ebf2	G	T	14: 67,665,554 (GRCm39)	V571F	probably benign	Het
Elapor2	T	A	5: 9,487,792 (GRCm39)	N559K	probably damaging	Het
Elavl4	A	T	4: 110,063,776 (GRCm39)	I275N	probably damaging	Het
F11r	A	G	1: 171,288,505 (GRCm39)	Q116R	probably benign	Het
Foxred2	T	A	15: 77,829,805 (GRCm39)	D580V	probably benign	Het
Gatad1	A	C	5: 3,691,544 (GRCm39)	L4R	probably damaging	Het
Gcn1	T	A	5: 115,727,153 (GRCm39)	M670K	probably benign	Het
Greb1	A	T	12: 16,774,885 (GRCm39)	F171I	probably damaging	Het
Grin2b	A	G	6: 136,021,007 (GRCm39)	V98A	probably damaging	Het
Helz2	A	T	2: 180,871,407 (GRCm39)	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564 (GRCm39)		probably benign	Het
Ighv1-11	C	T	12: 114,575,864 (GRCm39)	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,741,754 (GRCm39)	S34T	probably damaging	Het
Il27ra	T	A	8: 84,767,711 (GRCm39)	N71Y	probably damaging	Het
Iqca1	G	T	1: 90,067,649 (GRCm39)	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,324,864 (GRCm39)	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,809,519 (GRCm39)	L13S	probably damaging	Het
Kif26b	G	A	1: 178,743,714 (GRCm39)	R1270Q	probably benign	Het
Klhdc2	A	T	12: 69,347,065 (GRCm39)	R77*	probably null	Het
Klra10	A	T	6: 130,249,617 (GRCm39)		probably null	Het
Large1	A	T	8: 73,542,612 (GRCm39)	I704N	probably damaging	Het
Lrp1b	G	A	2: 40,888,196 (GRCm39)	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,255,001 (GRCm39)	M212L	probably benign	Het
Mab21l1	A	G	3: 55,690,348 (GRCm39)		probably benign	Het
Map4k4	A	T	1: 40,039,740 (GRCm39)	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Me1	A	T	9: 86,480,844 (GRCm39)	F354I	probably damaging	Het
Nlrp1b	A	G	11: 71,108,658 (GRCm39)	V281A	probably damaging	Het
Nrip2	A	G	6: 128,385,288 (GRCm39)	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471 (GRCm39)	V203A	probably damaging	Het
Or12e8	T	A	2: 87,187,950 (GRCm39)	I54K	possibly damaging	Het
Or4g17	A	T	2: 111,209,645 (GRCm39)	Q100L	probably damaging	Het
Or4n5	A	T	14: 50,132,509 (GRCm39)	M250K	probably benign	Het
Or8g2	A	G	9: 39,821,495 (GRCm39)	Y132C	probably damaging	Het
P4ha2	T	C	11: 54,004,995 (GRCm39)	F124L	probably benign	Het
Pcdha9	A	T	18: 37,131,750 (GRCm39)	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnd1	G	T	6: 115,949,506 (GRCm39)	S760*	probably null	Het
Polr1b	A	G	2: 128,957,576 (GRCm39)	T544A	probably benign	Het
Polr2g	T	C	19: 8,771,513 (GRCm39)	D153G	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,506,255 (GRCm39)	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,105,739 (GRCm39)	Y285F	probably benign	Het
Ryr3	A	G	2: 112,667,015 (GRCm39)		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Sftpd	A	G	14: 40,905,001 (GRCm39)	V30A	probably benign	Het
Sirt6	A	G	10: 81,462,378 (GRCm39)	V7A	probably benign	Het
Ska1	C	T	18: 74,330,639 (GRCm39)	V188M	probably damaging	Het
Skint8	G	A	4: 111,794,241 (GRCm39)	M210I	probably benign	Het
Slc6a11	A	G	6: 114,202,782 (GRCm39)		probably null	Het
Slc6a2	A	T	8: 93,715,702 (GRCm39)	H280L	probably benign	Het
Sptan1	T	C	2: 29,873,744 (GRCm39)	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,752,135 (GRCm39)	T518S	probably benign	Het
Thoc2l	T	C	5: 104,665,652 (GRCm39)	V58A	probably benign	Het
Tsc22d1	T	C	14: 76,656,266 (GRCm39)	M59T	probably benign	Het
Unc5cl	A	G	17: 48,769,361 (GRCm39)	T282A	probably benign	Het
Vav3	A	G	3: 109,590,229 (GRCm39)	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,315,926 (GRCm39)	V631A	probably damaging	Het
Zfp938	A	T	10: 82,061,287 (GRCm39)	F444L	possibly 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
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	54,801,506 (GRCm39)	missense	probably damaging	1.00
R5595:Ankrd44	UTSW	1	54,774,209 (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
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

PCR Primer
(F):5'- CTCAAAGGCTCAGTGCAAAAG -3'
(R):5'- ATAACCTGCTGGGGAGCAAG -3'

Sequencing Primer
(F):5'- CTCAGTGCAAAAGTGTTTAAGGC -3'
(R):5'- TCTCTCACCAGAGCCATTAGG -3'

Posted On

2021-08-31