Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02211:Dytn'

284711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02211

Quality Score

Status

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63674930 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 137 (N137Y)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090313]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090313
AA Change: N137Y

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: N137Y

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	5	118	8.2e-14	PFAM
Pfam:EF-hand_3	123	217	7.2e-20	PFAM
ZnF_ZZ	222	267	7.34e-13	SMART
coiled coil region	382	411	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoc3	C	A	9: 46,233,215		probably benign	Het
Atp8a2	C	T	14: 60,027,976	G304R	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cct4	A	G	11: 22,993,327		probably benign	Het
Cd28	T	C	1: 60,762,994	V24A	probably damaging	Het
Cfap70	T	C	14: 20,394,972	N1080S	probably damaging	Het
Cpa6	A	T	1: 10,595,636	I59K	possibly damaging	Het
Cramp1l	A	G	17: 24,977,636	S835P	possibly damaging	Het
Crim1	T	C	17: 78,355,145	L799S	probably damaging	Het
Cxcl16	T	C	11: 70,456,032	H95R	possibly damaging	Het
Dip2c	T	A	13: 9,610,847	C915S	probably damaging	Het
Exoc5	T	A	14: 49,014,210	Q628L	probably damaging	Het
Flii	A	G	11: 60,718,298		probably benign	Het
Hnrnph3	A	T	10: 63,017,342		probably benign	Het
Iqsec1	A	G	6: 90,671,609	L830P	probably damaging	Het
Kank1	G	T	19: 25,430,338	G1232V	probably damaging	Het
Kcnmb2	A	G	3: 32,198,334	E228G	probably damaging	Het
Limk1	A	T	5: 134,657,637	V538E	probably damaging	Het
Mmp20	T	A	9: 7,655,070	I393K	probably damaging	Het
Mtmr1	A	G	X: 71,412,257	D574G	possibly damaging	Het
Nr1h2	A	C	7: 44,550,460	M345R	probably damaging	Het
Nyap1	T	C	5: 137,739,675	H15R	probably damaging	Het
Olfr316	G	T	11: 58,758,370	S235I	possibly damaging	Het
Olfr652	A	T	7: 104,565,126	K302*	probably null	Het
Pde4b	T	G	4: 102,590,822		probably benign	Het
Pgrmc2	A	G	3: 41,082,633	V121A	probably damaging	Het
Ptges3	T	C	10: 128,076,058		probably benign	Het
Ranbp2	T	C	10: 58,478,242	S1595P	probably benign	Het
Rhbdf2	A	G	11: 116,600,435	F625L	possibly damaging	Het
Rhpn1	T	C	15: 75,711,056	S281P	possibly damaging	Het
Samd3	G	T	10: 26,233,557	G128W	probably damaging	Het
Sept5	T	C	16: 18,624,879	K51E	probably damaging	Het
Serpina7	G	A	X: 139,081,313	T185I	probably damaging	Het
Slc25a25	A	G	2: 32,417,440	V303A	probably damaging	Het
Slc5a4b	A	T	10: 76,060,463		probably benign	Het
Srpk3	A	T	X: 73,775,148	H114L	probably benign	Het
Sybu	T	G	15: 44,673,466	Q360P	probably damaging	Het
Vmn1r179	A	T	7: 23,929,205	I274F	probably benign	Het
Wdsub1	G	T	2: 59,858,736	R381S	probably damaging	Het
Wscd1	G	A	11: 71,788,975	R558H	probably damaging	Het

Other mutations in Dytn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dytn	APN	1	63678840	missense	probably benign	0.34
IGL00870:Dytn	APN	1	63677113	splice site	probably benign
IGL02110:Dytn	APN	1	63647473	missense	possibly damaging	0.86
IGL02124:Dytn	APN	1	63641092	missense	probably damaging	1.00
IGL02712:Dytn	APN	1	63664422	missense	probably benign	0.00
IGL02832:Dytn	APN	1	63643373	missense	probably benign	0.45
IGL03036:Dytn	APN	1	63641122	missense	probably damaging	0.97
H8562:Dytn	UTSW	1	63674912	missense	possibly damaging	0.88
R0306:Dytn	UTSW	1	63685113	missense	possibly damaging	0.89
R0441:Dytn	UTSW	1	63678774	splice site	probably benign
R1453:Dytn	UTSW	1	63633873	missense	probably damaging	0.99
R1655:Dytn	UTSW	1	63661198	missense	probably damaging	1.00
R1892:Dytn	UTSW	1	63677261	missense	probably benign	0.04
R3030:Dytn	UTSW	1	63633519	missense	probably benign	0.04
R4062:Dytn	UTSW	1	63647447	missense	probably benign	0.05
R4640:Dytn	UTSW	1	63643348	missense	possibly damaging	0.52
R4804:Dytn	UTSW	1	63643366	missense	probably benign	0.08
R4931:Dytn	UTSW	1	63633678	missense	probably benign	0.26
R5015:Dytn	UTSW	1	63633695	missense	probably benign	0.00
R5054:Dytn	UTSW	1	63661159	missense	possibly damaging	0.64
R5120:Dytn	UTSW	1	63623043	missense	probably benign
R5888:Dytn	UTSW	1	63677237	missense	possibly damaging	0.91
R6243:Dytn	UTSW	1	63647521	missense	possibly damaging	0.76
R6400:Dytn	UTSW	1	63641176	nonsense	probably null
R7595:Dytn	UTSW	1	63659002	missense	probably damaging	0.99
R7705:Dytn	UTSW	1	63678789	missense	probably damaging	1.00
R8445:Dytn	UTSW	1	63647514	missense	probably benign	0.04
Z1177:Dytn	UTSW	1	63633454	nonsense	probably null

Posted On

2015-04-16