Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Ankmy1'

30573

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92896190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 118 (R118Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112998
AA Change: R118Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: R118Q

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

probably damaging
Transcript: ENSMUST00000160548
AA Change: R118Q

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

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: R118Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582 (GRCm38)	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655 (GRCm38)	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929 (GRCm38)	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500 (GRCm38)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377 (GRCm38)	V69A	probably benign	Het
Ankrd27	T	C	7: 35,638,053 (GRCm38)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168 (GRCm38)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052 (GRCm38)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950 (GRCm38)	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238 (GRCm38)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545 (GRCm38)	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264 (GRCm38)	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193 (GRCm38)	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394 (GRCm38)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467 (GRCm38)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040 (GRCm38)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426 (GRCm38)		probably benign	Het
Def6	A	G	17: 28,220,180 (GRCm38)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870 (GRCm38)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747 (GRCm38)	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000 (GRCm38)	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817 (GRCm38)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm38)		probably null	Het
Fam205a1	T	C	4: 42,851,161 (GRCm38)	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405 (GRCm38)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104 (GRCm38)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210 (GRCm38)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270 (GRCm38)	T206M	probably benign	Het
Gls	T	C	1: 52,188,699 (GRCm38)	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220 (GRCm38)	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515 (GRCm38)	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042 (GRCm38)	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444 (GRCm38)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090 (GRCm38)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106 (GRCm38)	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222 (GRCm38)	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375 (GRCm38)	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288 (GRCm38)	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956 (GRCm38)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149 (GRCm38)		noncoding transcript	Het
Myh15	A	G	16: 49,182,959 (GRCm38)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042 (GRCm38)	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419 (GRCm38)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881 (GRCm38)	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187 (GRCm38)	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988 (GRCm38)	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805 (GRCm38)	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706 (GRCm38)	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413 (GRCm38)	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805 (GRCm38)	C177*	probably null	Het
Opcml	A	G	9: 28,813,398 (GRCm38)	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418 (GRCm38)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215 (GRCm38)	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390 (GRCm38)	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111 (GRCm38)	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849 (GRCm38)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344 (GRCm38)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537 (GRCm38)	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927 (GRCm38)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024 (GRCm38)		probably benign	Het
Prpsap2	A	G	11: 61,741,000 (GRCm38)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519 (GRCm38)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244 (GRCm38)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980 (GRCm38)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400 (GRCm38)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040 (GRCm38)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918 (GRCm38)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824 (GRCm38)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410 (GRCm38)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031 (GRCm38)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367 (GRCm38)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922 (GRCm38)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399 (GRCm38)	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763 (GRCm38)	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371 (GRCm38)	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620 (GRCm38)	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341 (GRCm38)	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768 (GRCm38)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209 (GRCm38)	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036 (GRCm38)	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684 (GRCm38)	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587 (GRCm38)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326 (GRCm38)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777 (GRCm38)	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443 (GRCm38)	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657 (GRCm38)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670 (GRCm38)	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344 (GRCm38)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940 (GRCm38)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590 (GRCm38)	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905 (GRCm38)	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336 (GRCm38)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522 (GRCm38)	Y322H	probably benign	Het

Other mutations in Ankmy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ankmy1	APN	1	92,886,266 (GRCm38)	missense	probably damaging	1.00
IGL01061:Ankmy1	APN	1	92,870,974 (GRCm38)	splice site	probably benign
IGL01960:Ankmy1	APN	1	92,871,663 (GRCm38)	splice site	probably benign
IGL01984:Ankmy1	APN	1	92,883,765 (GRCm38)	missense	probably damaging	0.99
IGL02193:Ankmy1	APN	1	92,881,045 (GRCm38)	missense	probably benign	0.03
IGL02536:Ankmy1	APN	1	92,886,188 (GRCm38)	missense	probably damaging	1.00
IGL02644:Ankmy1	APN	1	92,885,054 (GRCm38)	missense	probably benign	0.18
IGL02650:Ankmy1	APN	1	92,881,023 (GRCm38)	missense	probably damaging	1.00
IGL02660:Ankmy1	APN	1	92,896,094 (GRCm38)	missense	probably damaging	1.00
IGL02808:Ankmy1	APN	1	92,886,666 (GRCm38)	missense	probably damaging	1.00
bali	UTSW	1	92,871,722 (GRCm38)	missense	probably damaging	1.00
timor	UTSW	1	92,886,281 (GRCm38)	missense	probably benign	0.02
PIT4687001:Ankmy1	UTSW	1	92,885,081 (GRCm38)	missense	probably benign	0.00
R0313:Ankmy1	UTSW	1	92,886,221 (GRCm38)	missense	probably damaging	1.00
R0383:Ankmy1	UTSW	1	92,885,053 (GRCm38)	missense	probably benign	0.00
R0499:Ankmy1	UTSW	1	92,886,226 (GRCm38)	missense	probably damaging	1.00
R0562:Ankmy1	UTSW	1	92,899,691 (GRCm38)	splice site	probably benign
R0607:Ankmy1	UTSW	1	92,888,675 (GRCm38)	missense	probably damaging	1.00
R0739:Ankmy1	UTSW	1	92,888,648 (GRCm38)	missense	probably damaging	1.00
R0962:Ankmy1	UTSW	1	92,899,568 (GRCm38)	nonsense	probably null
R1192:Ankmy1	UTSW	1	92,883,894 (GRCm38)	missense	probably damaging	0.99
R1491:Ankmy1	UTSW	1	92,886,809 (GRCm38)	missense	probably benign	0.02
R1568:Ankmy1	UTSW	1	92,881,116 (GRCm38)	missense	probably damaging	1.00
R1585:Ankmy1	UTSW	1	92,899,651 (GRCm38)	missense	probably benign	0.00
R1590:Ankmy1	UTSW	1	92,888,675 (GRCm38)	missense	probably damaging	1.00
R1664:Ankmy1	UTSW	1	92,885,191 (GRCm38)	missense	probably benign	0.00
R1714:Ankmy1	UTSW	1	92,885,194 (GRCm38)	nonsense	probably null
R1818:Ankmy1	UTSW	1	92,886,831 (GRCm38)	missense	probably benign	0.43
R2014:Ankmy1	UTSW	1	92,885,141 (GRCm38)	missense	probably benign	0.00
R2043:Ankmy1	UTSW	1	92,876,527 (GRCm38)	unclassified	probably benign
R2056:Ankmy1	UTSW	1	92,881,831 (GRCm38)	missense	possibly damaging	0.61
R2427:Ankmy1	UTSW	1	92,870,807 (GRCm38)	critical splice donor site	probably null
R3806:Ankmy1	UTSW	1	92,883,758 (GRCm38)	missense	possibly damaging	0.92
R3883:Ankmy1	UTSW	1	92,886,152 (GRCm38)	missense	probably damaging	1.00
R3884:Ankmy1	UTSW	1	92,886,152 (GRCm38)	missense	probably damaging	1.00
R4118:Ankmy1	UTSW	1	92,888,696 (GRCm38)	missense	possibly damaging	0.60
R4132:Ankmy1	UTSW	1	92,885,100 (GRCm38)	missense	probably benign
R4441:Ankmy1	UTSW	1	92,888,661 (GRCm38)	missense	possibly damaging	0.92
R4543:Ankmy1	UTSW	1	92,884,850 (GRCm38)	missense	probably damaging	1.00
R4602:Ankmy1	UTSW	1	92,888,650 (GRCm38)	missense	probably benign	0.38
R4779:Ankmy1	UTSW	1	92,886,723 (GRCm38)	missense	probably benign	0.23
R5200:Ankmy1	UTSW	1	92,870,292 (GRCm38)	missense	probably benign	0.00
R5381:Ankmy1	UTSW	1	92,876,562 (GRCm38)	missense	probably benign
R5425:Ankmy1	UTSW	1	92,870,957 (GRCm38)	nonsense	probably null
R5474:Ankmy1	UTSW	1	92,885,204 (GRCm38)	missense	possibly damaging	0.59
R5534:Ankmy1	UTSW	1	92,886,720 (GRCm38)	missense	probably damaging	1.00
R5607:Ankmy1	UTSW	1	92,877,018 (GRCm38)	missense	probably damaging	1.00
R6112:Ankmy1	UTSW	1	92,870,962 (GRCm38)	missense	probably damaging	1.00
R6117:Ankmy1	UTSW	1	92,861,274 (GRCm38)	unclassified	probably benign
R6376:Ankmy1	UTSW	1	92,888,465 (GRCm38)	missense	possibly damaging	0.60
R6712:Ankmy1	UTSW	1	92,870,922 (GRCm38)	missense	probably damaging	1.00
R6915:Ankmy1	UTSW	1	92,888,451 (GRCm38)	missense	probably null	1.00
R7201:Ankmy1	UTSW	1	92,886,824 (GRCm38)	missense	possibly damaging	0.95
R7432:Ankmy1	UTSW	1	92,896,079 (GRCm38)	missense	probably benign
R7485:Ankmy1	UTSW	1	92,876,657 (GRCm38)	missense	probably damaging	0.99
R7795:Ankmy1	UTSW	1	92,883,848 (GRCm38)	missense	probably benign
R7851:Ankmy1	UTSW	1	92,871,722 (GRCm38)	missense	probably damaging	1.00
R8018:Ankmy1	UTSW	1	92,886,281 (GRCm38)	missense	probably benign	0.02
R8024:Ankmy1	UTSW	1	92,884,994 (GRCm38)	missense	probably benign
R8276:Ankmy1	UTSW	1	92,886,809 (GRCm38)	missense	probably benign	0.02
R8350:Ankmy1	UTSW	1	92,876,631 (GRCm38)	missense	possibly damaging	0.87
R8373:Ankmy1	UTSW	1	92,896,094 (GRCm38)	missense	probably damaging	0.98
R8683:Ankmy1	UTSW	1	92,885,250 (GRCm38)	missense	possibly damaging	0.96
R9597:Ankmy1	UTSW	1	92,877,051 (GRCm38)	missense
R9681:Ankmy1	UTSW	1	92,886,160 (GRCm38)	missense	possibly damaging	0.95
Z1176:Ankmy1	UTSW	1	92,878,437 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTTCACACAGCAGCCTCTC -3'
(R):5'- TGGCAGCAGCTCTATGCAGTTC -3'

Sequencing Primer
(F):5'- TCGAGTGAACACACAGCAG -3'
(R):5'- TTCTGAGTGACCAATGCCAG -3'

Posted On

2013-04-24