Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Ankrd42'

5209

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

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

92581723-92637142 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 92584454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032842] [ENSMUST00000056106] [ENSMUST00000085017] [ENSMUST00000118157] [ENSMUST00000126305]

AlphaFold

Q3V096

Predicted Effect

probably benign
Transcript: ENSMUST00000032842

SMART Domains

Protein: ENSMUSP00000032842
Gene: ENSMUSG00000030613

Domain	Start	End	E-Value	Type
Pfam:DUF1640	61	253	1.6e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056106

SMART Domains

Protein: ENSMUSP00000061208
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	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: ENSMUST00000085017

SMART Domains

Protein: ENSMUSP00000082090
Gene: ENSMUSG00000030613

Domain	Start	End	E-Value	Type
Pfam:DUF1640	60	109	1.6e-16	PFAM
Pfam:DUF1640	105	220	1.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118157

SMART Domains

Protein: ENSMUSP00000113767
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	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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Ankrd42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03195:Ankrd42	APN	7	92591858	missense	probably benign	0.33
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
R8669:Ankrd42	UTSW	7	92619673	missense	possibly damaging	0.51
R8794:Ankrd42	UTSW	7	92614466	missense	probably benign	0.32
R9646:Ankrd42	UTSW	7	92624049	missense	possibly damaging	0.84
X0065:Ankrd42	UTSW	7	92610555	missense	probably damaging	0.99

Posted On

2012-04-20