Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:Ankrd42'

412774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd42

Ensembl Gene

ENSMUSG00000041343

Gene Name

ankyrin repeat domain 42

Synonyms

4933417L02Rik, Ikbn

Accession Numbers

Is this an essential gene?

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

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

92581723-92637142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92591858 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 431 (Q431L)

Ref Sequence

ENSEMBL: ENSMUSP00000113767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056106] [ENSMUST00000118157] [ENSMUST00000126305]

Predicted Effect

probably benign
Transcript: ENSMUST00000056106
AA Change: Q431L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: Q431L

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	1.48e-3	SMART
ANK	158	187	2.11e2	SMART
ANK	191	220	9.78e-4	SMART
ANK	263	293	1.33e2	SMART
ANK	297	326	1.22e-4	SMART
coiled coil region	437	489	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118157
AA Change: Q431L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: Q431L

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	1.48e-3	SMART
ANK	158	187	2.11e2	SMART
ANK	191	220	9.78e-4	SMART
ANK	263	293	1.33e2	SMART
ANK	297	326	1.22e-4	SMART
coiled coil region	437	489	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126305

SMART Domains

Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	2.92e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,853,607	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,769		probably benign	Het
Arhgap12	A	T	18: 6,031,766	F592I	probably damaging	Het
Arhgef28	A	G	13: 97,951,563		probably null	Het
Boc	A	G	16: 44,492,821	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,896,708	V96E	probably benign	Het
Cep162	C	T	9: 87,225,786	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,157,448	N372S	probably benign	Het
Dnah7a	G	A	1: 53,419,607	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,276,092	Q57R	probably benign	Het
G3bp2	A	G	5: 92,068,508		probably benign	Het
Gm595	T	A	X: 48,872,948	Q296L	possibly damaging	Het
Hmcn1	G	A	1: 150,802,909	T487I	probably benign	Het
Kpna7	A	T	5: 144,997,037	I282N	probably damaging	Het
Lif	A	T	11: 4,269,201	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,471,122	D556E	possibly damaging	Het
Myom2	G	T	8: 15,111,844	E954*	probably null	Het
Nr6a1	A	T	2: 38,742,936	I171N	probably damaging	Het
Nup210	C	A	6: 91,015,850	R1059L	probably benign	Het
Olfr1109	A	T	2: 87,092,569	V276E	probably damaging	Het
Olfr225	G	A	11: 59,613,803	V280M	probably damaging	Het
Olfr698	A	G	7: 106,752,773	I205T	probably benign	Het
Olfr743	A	G	14: 50,533,420	T3A	probably benign	Het
Olfr987	A	T	2: 85,331,520	I126N	probably damaging	Het
Ostm1	T	C	10: 42,698,217	V302A	probably damaging	Het
Oxct1	A	G	15: 4,101,189	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,268,555	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,977,571	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,584,423	V636G	possibly damaging	Het
Spata18	T	A	5: 73,671,248	L270Q	probably damaging	Het
Stard9	G	A	2: 120,705,802	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,628,909	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,459,034	V406M	probably benign	Het
Trpc5	T	A	X: 144,382,728	M900L	probably benign	Het
Ttc9c	T	C	19: 8,815,980	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,757,080	E275G	probably damaging	Het

Other mutations in Ankrd42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ankrd42	APN	7	92584454	utr 3 prime	probably benign
IGL01151:Ankrd42	APN	7	92605200	unclassified	probably benign
IGL01444:Ankrd42	APN	7	92610585	missense	probably damaging	0.96
IGL01933:Ankrd42	APN	7	92605285	missense	probably benign
IGL03397:Ankrd42	APN	7	92619554	missense	probably damaging	1.00
R0128:Ankrd42	UTSW	7	92591859	nonsense	probably null
R0278:Ankrd42	UTSW	7	92631657	missense	possibly damaging	0.82
R0839:Ankrd42	UTSW	7	92612772	missense	possibly damaging	0.92
R1227:Ankrd42	UTSW	7	92605300	missense	possibly damaging	0.53
R1603:Ankrd42	UTSW	7	92619691	intron	probably benign
R2281:Ankrd42	UTSW	7	92625773	nonsense	probably null
R2299:Ankrd42	UTSW	7	92590254	missense	probably benign	0.33
R2324:Ankrd42	UTSW	7	92623978	missense	probably damaging	0.98
R2874:Ankrd42	UTSW	7	92605358	missense	possibly damaging	0.71
R3940:Ankrd42	UTSW	7	92591788	splice site	probably null
R4998:Ankrd42	UTSW	7	92624074	missense	possibly damaging	0.71
R5579:Ankrd42	UTSW	7	92590182	missense	possibly damaging	0.96
R5954:Ankrd42	UTSW	7	92623967	critical splice donor site	probably null
R6140:Ankrd42	UTSW	7	92591828	splice site	probably null
R6924:Ankrd42	UTSW	7	92582016	unclassified	probably benign
R6944:Ankrd42	UTSW	7	92619547	critical splice donor site	probably null
R7096:Ankrd42	UTSW	7	92591832	nonsense	probably null
R7101:Ankrd42	UTSW	7	92631544	missense	possibly damaging	0.53
R7155:Ankrd42	UTSW	7	92591933	missense	possibly damaging	0.72
R7410:Ankrd42	UTSW	7	92610554	missense	possibly damaging	0.93
R7500:Ankrd42	UTSW	7	92591872	missense	probably benign	0.33
R7640:Ankrd42	UTSW	7	92619635	missense	probably benign	0.14
R7737:Ankrd42	UTSW	7	92605262	missense	possibly damaging	0.53
X0065:Ankrd42	UTSW	7	92610555	missense	probably damaging	0.99

Posted On

2016-08-02