Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Ankrd44'

600835

Institutional Source

Beutler Lab

Gene Symbol

Ankrd44

Ensembl Gene

ENSMUSG00000052331

Gene Name

ankyrin repeat domain 44

Synonyms

E130014H08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7807 (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 54792476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 56 (I56N)

Ref Sequence

ENSEMBL: ENSMUSP00000137616 (fasta)

Gene Model

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

AlphaFold

B2RXR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044359
AA Change: I56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040327
Gene: ENSMUSG00000052331
AA Change: I56N

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 damaging
Transcript: ENSMUST00000177679
AA Change: I31N

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

SMART Domains

Protein: ENSMUSP00000137216
Gene: ENSMUSG00000052331
AA Change: I31N

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

probably damaging
Transcript: ENSMUST00000179030
AA Change: I56N

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

SMART Domains

Protein: ENSMUSP00000137616
Gene: ENSMUSG00000052331
AA Change: I56N

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,710,865	K1092E	probably damaging	Het
AB124611	C	A	9: 21,535,980	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976	S1595T	possibly damaging	Het
Anln	C	A	9: 22,360,880	V648F	probably damaging	Het
Arhgap29	A	G	3: 122,014,332	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017	S68P	probably benign	Het
Begain	T	C	12: 109,038,930	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855	M1K	probably null	Het
Cipc	T	C	12: 86,962,125	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,310,348		probably null	Het
Clock	A	T	5: 76,243,135	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842	D476G	probably benign	Het
Dnah7b	A	G	1: 46,214,367	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925	N64K	probably damaging	Het
Gm12394	A	C	4: 42,793,885	H82Q	probably benign	Het
Hectd1	G	A	12: 51,745,388	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011	H244R	probably damaging	Het
Hgs	G	T	11: 120,479,934	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,133,795	V1036A	probably benign	Het
Keg1	G	A	19: 12,714,634		probably null	Het
Klhl8	A	T	5: 103,876,066	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507		probably null	Het
Olfr1165-ps	T	C	2: 88,101,565	S141G	probably benign	Het
Olfr1355	T	A	10: 78,879,209	S12R	probably benign	Het
Olfr1487	C	A	19: 13,619,921	T210K	probably damaging	Het
Pax9	A	T	12: 56,697,065	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704	D834G	probably damaging	Het
Stim1	T	C	7: 102,427,141	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631	I1256N	probably benign	Het
Uba2	T	C	7: 34,163,213	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,870,237	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874	I907S	probably 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
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
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'- TGTGCTATACAGAGTGATAGACAGG -3'
(R):5'- TCTGCATAGGTTGGCCTTC -3'

Sequencing Primer
(F):5'- TACAGAGTGATAGACAGGAATCAAAC -3'
(R):5'- TCAACCTTACTCTACTAGCATGGAC -3'

Posted On

2019-11-26