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

Ikbn, 4933417L02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

92230931-92286350 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 92233662 bp (GRCm39)

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: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Ankrd42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Ankrd42	APN	7	92,254,408 (GRCm39)	unclassified	probably benign
IGL01444:Ankrd42	APN	7	92,259,793 (GRCm39)	missense	probably damaging	0.96
IGL01933:Ankrd42	APN	7	92,254,493 (GRCm39)	missense	probably benign
IGL03195:Ankrd42	APN	7	92,241,066 (GRCm39)	missense	probably benign	0.33
IGL03397:Ankrd42	APN	7	92,268,762 (GRCm39)	missense	probably damaging	1.00
R0128:Ankrd42	UTSW	7	92,241,067 (GRCm39)	nonsense	probably null
R0278:Ankrd42	UTSW	7	92,280,865 (GRCm39)	missense	possibly damaging	0.82
R0839:Ankrd42	UTSW	7	92,261,980 (GRCm39)	missense	possibly damaging	0.92
R1227:Ankrd42	UTSW	7	92,254,508 (GRCm39)	missense	possibly damaging	0.53
R1603:Ankrd42	UTSW	7	92,268,899 (GRCm39)	intron	probably benign
R2281:Ankrd42	UTSW	7	92,274,981 (GRCm39)	nonsense	probably null
R2299:Ankrd42	UTSW	7	92,239,462 (GRCm39)	missense	probably benign	0.33
R2324:Ankrd42	UTSW	7	92,273,186 (GRCm39)	missense	probably damaging	0.98
R2874:Ankrd42	UTSW	7	92,254,566 (GRCm39)	missense	possibly damaging	0.71
R3940:Ankrd42	UTSW	7	92,240,996 (GRCm39)	splice site	probably null
R4998:Ankrd42	UTSW	7	92,273,282 (GRCm39)	missense	possibly damaging	0.71
R5579:Ankrd42	UTSW	7	92,239,390 (GRCm39)	missense	possibly damaging	0.96
R5954:Ankrd42	UTSW	7	92,273,175 (GRCm39)	critical splice donor site	probably null
R6140:Ankrd42	UTSW	7	92,241,036 (GRCm39)	splice site	probably null
R6924:Ankrd42	UTSW	7	92,231,224 (GRCm39)	unclassified	probably benign
R6944:Ankrd42	UTSW	7	92,268,755 (GRCm39)	critical splice donor site	probably null
R7096:Ankrd42	UTSW	7	92,241,040 (GRCm39)	nonsense	probably null
R7101:Ankrd42	UTSW	7	92,280,752 (GRCm39)	missense	possibly damaging	0.53
R7155:Ankrd42	UTSW	7	92,241,141 (GRCm39)	missense	possibly damaging	0.72
R7410:Ankrd42	UTSW	7	92,259,762 (GRCm39)	missense	possibly damaging	0.93
R7500:Ankrd42	UTSW	7	92,241,080 (GRCm39)	missense	probably benign	0.33
R7640:Ankrd42	UTSW	7	92,268,843 (GRCm39)	missense	probably benign	0.14
R7737:Ankrd42	UTSW	7	92,254,470 (GRCm39)	missense	possibly damaging	0.53
R8669:Ankrd42	UTSW	7	92,268,881 (GRCm39)	missense	possibly damaging	0.51
R8794:Ankrd42	UTSW	7	92,263,674 (GRCm39)	missense	probably benign	0.32
R9646:Ankrd42	UTSW	7	92,273,257 (GRCm39)	missense	possibly damaging	0.84
X0065:Ankrd42	UTSW	7	92,259,763 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20