Mutagenetix > Incidental Mutation

Incidental Mutation 'R4132:Ankmy1'

314693

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92787525-92830628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92812822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 496 (M496V)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112998
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: M496V

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 benign
Transcript: ENSMUST00000160548
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: M496V

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Cmklr1	C	A	5: 113,752,545 (GRCm39)	R152L	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Gm1527	A	T	3: 28,974,779 (GRCm39)	I531L	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Heca	A	G	10: 17,777,987 (GRCm39)	S537P	probably damaging	Het
Icam5	T	C	9: 20,947,953 (GRCm39)	I617T	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhdc4	C	T	8: 122,524,804 (GRCm39)	G375R	possibly damaging	Het
Myo5c	G	A	9: 75,159,850 (GRCm39)	V293I	probably benign	Het
Ncbp1	C	T	4: 46,169,241 (GRCm39)	R672*	probably null	Het
Pcdhga2	T	C	18: 37,803,107 (GRCm39)	I317T	possibly damaging	Het
Safb	C	A	17: 56,907,848 (GRCm39)		probably benign	Het
Tspan5	C	T	3: 138,602,628 (GRCm39)	R106*	probably null	Het
Ubap2l	A	G	3: 89,916,491 (GRCm39)	Y908H	probably damaging	Het
Uspl1	A	G	5: 149,141,159 (GRCm39)	N372S	probably damaging	Het
Vmn1r210	T	C	13: 23,011,819 (GRCm39)	I156V	probably benign	Het
Zbtb8os	A	G	4: 129,229,906 (GRCm39)	Y24C	probably damaging	Het

Other mutations in Ankmy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ankmy1	APN	1	92,813,988 (GRCm39)	missense	probably damaging	1.00
IGL01061:Ankmy1	APN	1	92,798,696 (GRCm39)	splice site	probably benign
IGL01960:Ankmy1	APN	1	92,799,385 (GRCm39)	splice site	probably benign
IGL01984:Ankmy1	APN	1	92,811,487 (GRCm39)	missense	probably damaging	0.99
IGL02193:Ankmy1	APN	1	92,808,767 (GRCm39)	missense	probably benign	0.03
IGL02536:Ankmy1	APN	1	92,813,910 (GRCm39)	missense	probably damaging	1.00
IGL02644:Ankmy1	APN	1	92,812,776 (GRCm39)	missense	probably benign	0.18
IGL02650:Ankmy1	APN	1	92,808,745 (GRCm39)	missense	probably damaging	1.00
IGL02660:Ankmy1	APN	1	92,823,816 (GRCm39)	missense	probably damaging	1.00
IGL02808:Ankmy1	APN	1	92,814,388 (GRCm39)	missense	probably damaging	1.00
bali	UTSW	1	92,799,444 (GRCm39)	missense	probably damaging	1.00
timor	UTSW	1	92,814,003 (GRCm39)	missense	probably benign	0.02
PIT4687001:Ankmy1	UTSW	1	92,812,803 (GRCm39)	missense	probably benign	0.00
R0313:Ankmy1	UTSW	1	92,813,943 (GRCm39)	missense	probably damaging	1.00
R0373:Ankmy1	UTSW	1	92,823,912 (GRCm39)	missense	probably damaging	0.99
R0383:Ankmy1	UTSW	1	92,812,775 (GRCm39)	missense	probably benign	0.00
R0499:Ankmy1	UTSW	1	92,813,948 (GRCm39)	missense	probably damaging	1.00
R0562:Ankmy1	UTSW	1	92,827,413 (GRCm39)	splice site	probably benign
R0607:Ankmy1	UTSW	1	92,816,397 (GRCm39)	missense	probably damaging	1.00
R0739:Ankmy1	UTSW	1	92,816,370 (GRCm39)	missense	probably damaging	1.00
R0962:Ankmy1	UTSW	1	92,827,290 (GRCm39)	nonsense	probably null
R1192:Ankmy1	UTSW	1	92,811,616 (GRCm39)	missense	probably damaging	0.99
R1491:Ankmy1	UTSW	1	92,814,531 (GRCm39)	missense	probably benign	0.02
R1568:Ankmy1	UTSW	1	92,808,838 (GRCm39)	missense	probably damaging	1.00
R1585:Ankmy1	UTSW	1	92,827,373 (GRCm39)	missense	probably benign	0.00
R1590:Ankmy1	UTSW	1	92,816,397 (GRCm39)	missense	probably damaging	1.00
R1664:Ankmy1	UTSW	1	92,812,913 (GRCm39)	missense	probably benign	0.00
R1714:Ankmy1	UTSW	1	92,812,916 (GRCm39)	nonsense	probably null
R1818:Ankmy1	UTSW	1	92,814,553 (GRCm39)	missense	probably benign	0.43
R2014:Ankmy1	UTSW	1	92,812,863 (GRCm39)	missense	probably benign	0.00
R2043:Ankmy1	UTSW	1	92,804,249 (GRCm39)	unclassified	probably benign
R2056:Ankmy1	UTSW	1	92,809,553 (GRCm39)	missense	possibly damaging	0.61
R2427:Ankmy1	UTSW	1	92,798,529 (GRCm39)	critical splice donor site	probably null
R3806:Ankmy1	UTSW	1	92,811,480 (GRCm39)	missense	possibly damaging	0.92
R3883:Ankmy1	UTSW	1	92,813,874 (GRCm39)	missense	probably damaging	1.00
R3884:Ankmy1	UTSW	1	92,813,874 (GRCm39)	missense	probably damaging	1.00
R4118:Ankmy1	UTSW	1	92,816,418 (GRCm39)	missense	possibly damaging	0.60
R4441:Ankmy1	UTSW	1	92,816,383 (GRCm39)	missense	possibly damaging	0.92
R4543:Ankmy1	UTSW	1	92,812,572 (GRCm39)	missense	probably damaging	1.00
R4602:Ankmy1	UTSW	1	92,816,372 (GRCm39)	missense	probably benign	0.38
R4779:Ankmy1	UTSW	1	92,814,445 (GRCm39)	missense	probably benign	0.23
R5200:Ankmy1	UTSW	1	92,798,014 (GRCm39)	missense	probably benign	0.00
R5381:Ankmy1	UTSW	1	92,804,284 (GRCm39)	missense	probably benign
R5425:Ankmy1	UTSW	1	92,798,679 (GRCm39)	nonsense	probably null
R5474:Ankmy1	UTSW	1	92,812,926 (GRCm39)	missense	possibly damaging	0.59
R5534:Ankmy1	UTSW	1	92,814,442 (GRCm39)	missense	probably damaging	1.00
R5607:Ankmy1	UTSW	1	92,804,740 (GRCm39)	missense	probably damaging	1.00
R6112:Ankmy1	UTSW	1	92,798,684 (GRCm39)	missense	probably damaging	1.00
R6117:Ankmy1	UTSW	1	92,788,996 (GRCm39)	unclassified	probably benign
R6376:Ankmy1	UTSW	1	92,816,187 (GRCm39)	missense	possibly damaging	0.60
R6712:Ankmy1	UTSW	1	92,798,644 (GRCm39)	missense	probably damaging	1.00
R6915:Ankmy1	UTSW	1	92,816,173 (GRCm39)	missense	probably null	1.00
R7201:Ankmy1	UTSW	1	92,814,546 (GRCm39)	missense	possibly damaging	0.95
R7432:Ankmy1	UTSW	1	92,823,801 (GRCm39)	missense	probably benign
R7485:Ankmy1	UTSW	1	92,804,379 (GRCm39)	missense	probably damaging	0.99
R7795:Ankmy1	UTSW	1	92,811,570 (GRCm39)	missense	probably benign
R7851:Ankmy1	UTSW	1	92,799,444 (GRCm39)	missense	probably damaging	1.00
R8018:Ankmy1	UTSW	1	92,814,003 (GRCm39)	missense	probably benign	0.02
R8024:Ankmy1	UTSW	1	92,812,716 (GRCm39)	missense	probably benign
R8276:Ankmy1	UTSW	1	92,814,531 (GRCm39)	missense	probably benign	0.02
R8350:Ankmy1	UTSW	1	92,804,353 (GRCm39)	missense	possibly damaging	0.87
R8373:Ankmy1	UTSW	1	92,823,816 (GRCm39)	missense	probably damaging	0.98
R8683:Ankmy1	UTSW	1	92,812,972 (GRCm39)	missense	possibly damaging	0.96
R9597:Ankmy1	UTSW	1	92,804,773 (GRCm39)	missense
R9681:Ankmy1	UTSW	1	92,813,882 (GRCm39)	missense	possibly damaging	0.95
Z1176:Ankmy1	UTSW	1	92,806,159 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCATGATGTCCCTCGAG -3'
(R):5'- CTGCTATGGAGAGAAGAGCTGC -3'

Sequencing Primer
(F):5'- CGAGACATTAATAGTGTAGTTCCGC -3'
(R):5'- TGGTGCTTTGCCATAGGAATCTCC -3'

Posted On

2015-05-14