Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Ankmy1'

560267

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92886824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 320 (H320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112998] [ENSMUST00000160548]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112998
AA Change: H320Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: H320Q

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
MORN	87	108	4.22e0	SMART
MORN	110	131	7.05e-5	SMART
MORN	155	176	7.15e1	SMART
ANK	378	407	4.32e-5	SMART
Blast:ANK	575	604	2e-10	BLAST
ANK	607	636	2.63e2	SMART
ANK	643	675	1.87e2	SMART
ANK	719	753	1.73e-4	SMART
ANK	756	785	6.92e-4	SMART
Blast:ANK	790	828	1e-12	BLAST
low complexity region	876	889	N/A	INTRINSIC
Pfam:zf-MYND	940	980	1.8e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160548
AA Change: H320Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: H320Q

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
MORN	87	108	4.22e0	SMART
MORN	110	131	7.05e-5	SMART
MORN	155	176	7.15e1	SMART
ANK	378	407	4.32e-5	SMART
Blast:ANK	575	604	2e-10	BLAST
ANK	607	636	2.63e2	SMART
ANK	643	675	1.87e2	SMART
ANK	719	753	1.73e-4	SMART
ANK	756	785	6.92e-4	SMART
Blast:ANK	790	828	1e-12	BLAST
low complexity region	876	889	N/A	INTRINSIC
Pfam:zf-MYND	941	981	2.3e-8	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,291,627	M1850V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,468	D326G	possibly damaging	Het
Acaca	A	G	11: 84,262,474	T903A	probably benign	Het
Acin1	A	T	14: 54,664,899	S479T	possibly damaging	Het
Actr6	A	T	10: 89,712,512	D370E	probably benign	Het
Adgrl3	T	C	5: 81,724,222	F921S	probably damaging	Het
Arhgef5	C	T	6: 43,273,232	Q306*	probably null	Het
Arntl	T	A	7: 113,285,142	M122K	probably damaging	Het
Art4	A	T	6: 136,854,549	V198E	probably benign	Het
Asph	G	A	4: 9,474,917	R686W	probably damaging	Het
Atg7	A	G	6: 114,777,057	H724R	probably damaging	Het
B020004J07Rik	T	A	4: 101,838,141		probably null	Het
BC034090	A	G	1: 155,241,934	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,731,586	Q45L	probably damaging	Het
Ccdc36	A	T	9: 108,404,775	D571E	probably damaging	Het
Cd28	G	T	1: 60,763,173	E84*	probably null	Het
Ceacam3	G	A	7: 17,158,238	W302*	probably null	Het
Cerkl	T	C	2: 79,333,590	N462S	probably benign	Het
Cisd2	A	T	3: 135,411,213	L39H	probably damaging	Het
Col11a1	C	A	3: 114,090,157	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,142,991	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,401,776	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,991,447	S263A	probably benign	Het
Cyp3a25	T	A	5: 146,003,058	L46F	probably benign	Het
D17Wsu92e	A	C	17: 27,794,070		probably null	Het
Dmrta1	T	A	4: 89,692,171	L456*	probably null	Het
Dnah12	T	C	14: 26,814,622	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,328,311	S253R	probably damaging	Het
Egln2	A	C	7: 27,160,319	I323S	probably damaging	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,963,397	Q276K	probably benign	Het
Fcrls	C	T	3: 87,252,627	C440Y	probably damaging	Het
Fmnl2	T	C	2: 53,073,654	V266A	unknown	Het
Glo1	A	T	17: 30,597,854	D109E	probably benign	Het
Grin3b	A	G	10: 79,974,078	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015	L425F	probably damaging	Het
Kcnq5	T	C	1: 21,402,875	E716G	possibly damaging	Het
Klra17	A	T	6: 129,873,343	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,629,897	Q37K	probably benign	Het
Ly6a	T	A	15: 74,996,476	T55S	probably benign	Het
Lyst	T	A	13: 13,709,300	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,631,351	Y140H	probably benign	Het
Mak	T	C	13: 41,051,440	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,489,172	I789T	probably benign	Het
Mrpl4	T	C	9: 21,007,338	I123T	probably benign	Het
Mup18	G	C	4: 61,673,336		probably null	Het
Myef2	T	C	2: 125,096,162		probably null	Het
Myh7	T	C	14: 54,990,945	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,715,459	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,830,895	Y85*	probably null	Het
Nyap1	A	T	5: 137,736,262	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,094		probably benign	Het
Olfr392	A	G	11: 73,814,341	V247A	probably benign	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr718-ps1	A	G	5: 143,137,798	Y157H	probably damaging	Het
Papss1	T	C	3: 131,599,926	L244P	probably damaging	Het
Pibf1	A	T	14: 99,196,408	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,737,179	M1K	probably null	Het
Ppwd1	G	A	13: 104,207,172	P575L	probably damaging	Het
Prc1	A	G	7: 80,311,089	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,316,306	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,698,803	I1014V	probably benign	Het
Rab3gap2	A	G	1: 185,267,191	Y999C	probably damaging	Het
Robo3	G	A	9: 37,424,330	Q539*	probably null	Het
Rps12	A	G	10: 23,785,231	Y127H	probably benign	Het
Sar1b	A	G	11: 51,788,252	D116G	probably benign	Het
Selenbp2	C	T	3: 94,702,357	P294L	probably benign	Het
Slc6a2	T	C	8: 92,995,672	Y516H	probably damaging	Het
Slit2	A	G	5: 48,237,285	N673S	probably null	Het
Snap91	A	T	9: 86,790,146		probably null	Het
Srpk2	A	G	5: 23,507,628	F653L	possibly damaging	Het
Supt5	A	T	7: 28,316,788	S824T	probably benign	Het
Taar7a	A	G	10: 23,992,460	V341A	probably benign	Het
Tmem52	G	A	4: 155,470,321	G134R	probably damaging	Het
Ush2a	A	G	1: 188,874,754	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855		probably null	Het
Vmn1r173	A	T	7: 23,702,158		probably benign	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vwce	A	G	19: 10,638,115	E120G	possibly damaging	Het
Zfp143	T	C	7: 110,093,080	V566A	possibly damaging	Het

Other mutations in Ankmy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ankmy1	APN	1	92886266	missense	probably damaging	1.00
IGL01061:Ankmy1	APN	1	92870974	splice site	probably benign
IGL01960:Ankmy1	APN	1	92871663	splice site	probably benign
IGL01984:Ankmy1	APN	1	92883765	missense	probably damaging	0.99
IGL02193:Ankmy1	APN	1	92881045	missense	probably benign	0.03
IGL02536:Ankmy1	APN	1	92886188	missense	probably damaging	1.00
IGL02644:Ankmy1	APN	1	92885054	missense	probably benign	0.18
IGL02650:Ankmy1	APN	1	92881023	missense	probably damaging	1.00
IGL02660:Ankmy1	APN	1	92896094	missense	probably damaging	1.00
IGL02808:Ankmy1	APN	1	92886666	missense	probably damaging	1.00
bali	UTSW	1	92871722	missense	probably damaging	1.00
timor	UTSW	1	92886281	missense	probably benign	0.02
PIT4687001:Ankmy1	UTSW	1	92885081	missense	probably benign	0.00
R0313:Ankmy1	UTSW	1	92886221	missense	probably damaging	1.00
R0373:Ankmy1	UTSW	1	92896190	missense	probably damaging	0.99
R0383:Ankmy1	UTSW	1	92885053	missense	probably benign	0.00
R0499:Ankmy1	UTSW	1	92886226	missense	probably damaging	1.00
R0562:Ankmy1	UTSW	1	92899691	splice site	probably benign
R0607:Ankmy1	UTSW	1	92888675	missense	probably damaging	1.00
R0739:Ankmy1	UTSW	1	92888648	missense	probably damaging	1.00
R0962:Ankmy1	UTSW	1	92899568	nonsense	probably null
R1192:Ankmy1	UTSW	1	92883894	missense	probably damaging	0.99
R1491:Ankmy1	UTSW	1	92886809	missense	probably benign	0.02
R1568:Ankmy1	UTSW	1	92881116	missense	probably damaging	1.00
R1585:Ankmy1	UTSW	1	92899651	missense	probably benign	0.00
R1590:Ankmy1	UTSW	1	92888675	missense	probably damaging	1.00
R1664:Ankmy1	UTSW	1	92885191	missense	probably benign	0.00
R1714:Ankmy1	UTSW	1	92885194	nonsense	probably null
R1818:Ankmy1	UTSW	1	92886831	missense	probably benign	0.43
R2014:Ankmy1	UTSW	1	92885141	missense	probably benign	0.00
R2043:Ankmy1	UTSW	1	92876527	unclassified	probably benign
R2056:Ankmy1	UTSW	1	92881831	missense	possibly damaging	0.61
R2427:Ankmy1	UTSW	1	92870807	critical splice donor site	probably null
R3806:Ankmy1	UTSW	1	92883758	missense	possibly damaging	0.92
R3883:Ankmy1	UTSW	1	92886152	missense	probably damaging	1.00
R3884:Ankmy1	UTSW	1	92886152	missense	probably damaging	1.00
R4118:Ankmy1	UTSW	1	92888696	missense	possibly damaging	0.60
R4132:Ankmy1	UTSW	1	92885100	missense	probably benign
R4441:Ankmy1	UTSW	1	92888661	missense	possibly damaging	0.92
R4543:Ankmy1	UTSW	1	92884850	missense	probably damaging	1.00
R4602:Ankmy1	UTSW	1	92888650	missense	probably benign	0.38
R4779:Ankmy1	UTSW	1	92886723	missense	probably benign	0.23
R5200:Ankmy1	UTSW	1	92870292	missense	probably benign	0.00
R5381:Ankmy1	UTSW	1	92876562	missense	probably benign
R5425:Ankmy1	UTSW	1	92870957	nonsense	probably null
R5474:Ankmy1	UTSW	1	92885204	missense	possibly damaging	0.59
R5534:Ankmy1	UTSW	1	92886720	missense	probably damaging	1.00
R5607:Ankmy1	UTSW	1	92877018	missense	probably damaging	1.00
R6112:Ankmy1	UTSW	1	92870962	missense	probably damaging	1.00
R6117:Ankmy1	UTSW	1	92861274	unclassified	probably benign
R6376:Ankmy1	UTSW	1	92888465	missense	possibly damaging	0.60
R6712:Ankmy1	UTSW	1	92870922	missense	probably damaging	1.00
R6915:Ankmy1	UTSW	1	92888451	missense	probably null	1.00
R7432:Ankmy1	UTSW	1	92896079	missense	probably benign
R7485:Ankmy1	UTSW	1	92876657	missense	probably damaging	0.99
R7795:Ankmy1	UTSW	1	92883848	missense	probably benign
R7851:Ankmy1	UTSW	1	92871722	missense	probably damaging	1.00
R8018:Ankmy1	UTSW	1	92886281	missense	probably benign	0.02
R8024:Ankmy1	UTSW	1	92884994	missense	probably benign
R8276:Ankmy1	UTSW	1	92886809	missense	probably benign	0.02
R8350:Ankmy1	UTSW	1	92876631	missense	possibly damaging	0.87
R8373:Ankmy1	UTSW	1	92896094	missense	probably damaging	0.98
R8683:Ankmy1	UTSW	1	92885250	missense	possibly damaging	0.96
R9597:Ankmy1	UTSW	1	92877051	missense
R9681:Ankmy1	UTSW	1	92886160	missense	possibly damaging	0.95
Z1176:Ankmy1	UTSW	1	92878437	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCCTTGGAGTCAGCCAC -3'
(R):5'- CCATCCTGATTGTAACTGACTGG -3'

Sequencing Primer
(F):5'- TTGGAGTCAGCCACGTCAG -3'
(R):5'- GCAGAGTAGCCATTGGGG -3'

Posted On

2019-06-26