Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Ankrd42'

84353

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: 0.076) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

92581723-92637142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92610585 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 327 (T327A)

Ref Sequence

ENSEMBL: ENSMUSP00000147057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056106] [ENSMUST00000118157] [ENSMUST00000126305] [ENSMUST00000138267] [ENSMUST00000207131] [ENSMUST00000207151]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056106
AA Change: T327A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: T327A

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

possibly damaging
Transcript: ENSMUST00000118157
AA Change: T327A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: T327A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138267
AA Change: T327A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142971

Predicted Effect

probably damaging
Transcript: ENSMUST00000207131
AA Change: T327A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000207151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207971

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906	A806S	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
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	intron	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

2013-11-11