Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02110:Dytn'

280083

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: 0.062) question?

Stock #

IGL02110

Quality Score

Status

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63647473 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 346 (V346E)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090313
AA Change: V346E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: V346E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,548,084		probably benign	Het
Apol7e	A	G	15: 77,714,348		probably null	Het
Arhgef40	C	T	14: 51,989,405	T302M	probably damaging	Het
Bap1	T	C	14: 31,257,414	L458P	probably damaging	Het
Bbs12	A	G	3: 37,319,187	E43G	probably benign	Het
Bod1l	C	T	5: 41,816,453	C2506Y	probably damaging	Het
Ccdc170	A	G	10: 4,541,885		probably null	Het
Chpf2	A	G	5: 24,591,712	E552G	probably damaging	Het
Comp	T	A	8: 70,373,639	I23N	probably benign	Het
Cxcl2	T	C	5: 90,904,352		probably benign	Het
Dctn5	T	C	7: 122,135,151	F73L	probably damaging	Het
Ddx5	T	C	11: 106,785,009	E285G	probably damaging	Het
Ddx60	T	G	8: 62,017,247		probably null	Het
Dhcr24	T	A	4: 106,573,801	I229N	probably damaging	Het
Dnah7a	G	A	1: 53,411,580	T3897I	possibly damaging	Het
Dvl2	T	A	11: 70,008,016		probably benign	Het
Eepd1	T	C	9: 25,603,402		probably benign	Het
Fbln2	G	T	6: 91,234,102	A343S	probably benign	Het
Flywch1	T	C	17: 23,763,092		probably null	Het
Gckr	A	T	5: 31,298,738	T81S	possibly damaging	Het
Gm6139	T	A	5: 129,623,592		noncoding transcript	Het
Gpcpd1	A	T	2: 132,530,610	C657*	probably null	Het
Greb1l	A	G	18: 10,515,271	I89V	probably damaging	Het
Hdac4	G	A	1: 91,984,405	P421S	probably benign	Het
Klhl1	A	G	14: 96,136,603	L669P	probably benign	Het
Mios	A	G	6: 8,215,565	R254G	probably damaging	Het
Mmp19	A	G	10: 128,794,858	N116D	probably damaging	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Nadsyn1	T	C	7: 143,813,427	Y141C	probably damaging	Het
Nlrp4d	T	C	7: 10,382,564		noncoding transcript	Het
Nob1	A	T	8: 107,416,172	*160R	probably null	Het
Olfr1295	C	T	2: 111,564,907	C179Y	probably damaging	Het
Olfr1366	T	A	13: 21,537,942	Q21L	possibly damaging	Het
Olfr346	A	G	2: 36,688,685	T228A	probably benign	Het
Olfr455	A	G	6: 42,538,179	V281A	possibly damaging	Het
Olfr504	C	A	7: 108,565,079	A239S	probably damaging	Het
Olfr571	C	T	7: 102,909,195	V215I	probably benign	Het
Phc1	T	C	6: 122,322,035	D658G	possibly damaging	Het
Pitx2	T	G	3: 129,218,817	S299A	probably damaging	Het
Plekha7	C	A	7: 116,154,628		probably null	Het
Ptgfr	A	G	3: 151,835,460	V137A	probably damaging	Het
Ptprb	T	C	10: 116,331,203		probably benign	Het
Rasl2-9	C	T	7: 5,125,347	A195T	probably benign	Het
Ripor3	T	A	2: 167,994,706	Q121L	possibly damaging	Het
Sgsh	G	T	11: 119,352,806	A30E	probably damaging	Het
Sis	G	T	3: 72,928,699	C852*	probably null	Het
Slc17a9	A	G	2: 180,732,576		probably benign	Het
Slco6b1	A	T	1: 96,987,882		noncoding transcript	Het
Smarca2	A	G	19: 26,672,740	Y704C	possibly damaging	Het
Spata6	A	T	4: 111,784,806	H291L	possibly damaging	Het
Stra8	T	C	6: 34,930,354		probably benign	Het
Taldo1	T	C	7: 141,402,734		probably benign	Het
Tmco6	T	C	18: 36,735,166		probably benign	Het
Tmpo	A	C	10: 91,162,865	S353R	probably damaging	Het
Tpr	A	T	1: 150,435,742	Q1757L	probably damaging	Het
Ubn1	T	C	16: 5,081,890		probably benign	Het
Vmn2r83	T	C	10: 79,491,700	V714A	possibly damaging	Het
Zfp407	G	T	18: 84,559,040	A1316D	probably benign	Het
Zzef1	T	A	11: 72,913,112	I2560N	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
IGL02124:Dytn	APN	1	63641092	missense	probably damaging	1.00
IGL02211:Dytn	APN	1	63674930	missense	possibly damaging	0.61
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
R8745:Dytn	UTSW	1	63647447	missense	probably benign	0.00
Z1177:Dytn	UTSW	1	63633454	nonsense	probably null

Posted On

2015-04-16