Mutagenetix > Incidental Mutations

Incidental Mutation 'R2299:Ankrd42'

245263

Institutional Source

Beutler Lab

Gene Symbol

Ankrd42

Ensembl Gene

ENSMUSG00000041343

Gene Name

ankyrin repeat domain 42

Synonyms

4933417L02Rik, Ikbn

MMRRC Submission

040298-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2299 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

92581723-92637142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92590254 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 442 (I442T)

Ref Sequence

ENSEMBL: ENSMUSP00000113767 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056106
AA Change: I442T

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

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: I442T

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: I442T

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

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: I442T

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

Meta Mutation Damage Score

0.0883

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	G	X: 89,932,399	M64T	possibly damaging	Het
4933434E20Rik	A	G	3: 90,064,538	N68S	possibly damaging	Het
5031439G07Rik	A	C	15: 84,953,285	F276V	possibly damaging	Het
Abca12	C	T	1: 71,258,222	V2370I	probably damaging	Het
Acsl3	T	G	1: 78,699,110	C469W	probably damaging	Het
Adgrg5	A	T	8: 94,938,576	I372F	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bmpr1b	C	A	3: 141,845,202	R376L	probably damaging	Het
C1qtnf6	T	A	15: 78,525,342	T102S	probably benign	Het
Chordc1	T	C	9: 18,302,108	L85P	probably damaging	Het
Clec2j	T	A	6: 128,655,236		noncoding transcript	Het
Copa	T	C	1: 172,121,725	I1223T	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cyfip2	T	A	11: 46,286,131	E74V	probably benign	Het
Dsg1a	A	T	18: 20,340,150	D760V	probably damaging	Het
Folr1	A	G	7: 101,863,992	L32P	probably damaging	Het
Galnt13	A	T	2: 55,060,583	R425S	possibly damaging	Het
Gm4559	A	T	7: 142,273,835	C177S	unknown	Het
H3f3a	C	T	1: 180,803,138	R117H	probably benign	Het
Hist1h2bh	A	G	13: 23,543,184	S57P	probably damaging	Het
Kansl1l	T	C	1: 66,773,477	D459G	probably damaging	Het
Limd1	A	T	9: 123,516,877	K574*	probably null	Het
Mmrn1	A	G	6: 60,976,441	K569E	probably damaging	Het
Olfr583	T	C	7: 103,051,582	W95R	probably damaging	Het
Ppwd1	T	C	13: 104,220,063	M315V	probably benign	Het
Prss21	A	G	17: 23,869,589	E176G	probably benign	Het
Ptpn23	A	G	9: 110,392,513	I173T	possibly damaging	Het
Rit1	T	A	3: 88,726,070		probably null	Het
Rnf14	C	T	18: 38,308,085	A176V	probably benign	Het
Sema5a	T	A	15: 32,562,776	V311E	possibly damaging	Het
Slc28a2	C	T	2: 122,441,778	Q34*	probably null	Het
Spire1	A	C	18: 67,530,423	L36R	probably damaging	Het
Usp33	T	A	3: 152,374,621	V463E	probably damaging	Het
Vcpip1	A	G	1: 9,745,719	L813S	possibly damaging	Het
Vmn1r174	A	T	7: 23,754,004	I32F	probably benign	Het
Zbtb24	G	A	10: 41,464,581	V536M	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACAGGATTCAAATTCACCCC -3'
(R):5'- TGGTACCTTCTAGCACACCAC -3'

Sequencing Primer
(F):5'- CTCAAAGCTTACAATTTTAGCCAC -3'
(R):5'- ACCTTCTAGCACACCACATATTTTAC -3'

Posted On

2014-10-30