Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03036:Dytn'

408663

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: 0.067) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63641122 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 426 (I426T)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090313
AA Change: I426T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: I426T

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,585,700	Y145*	probably null	Het
Afdn	T	G	17: 13,888,088	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,306,926	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,319,194	H45Q	possibly damaging	Het
Brpf3	T	C	17: 28,824,048	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,769,337	S485P	possibly damaging	Het
Cgref1	A	T	5: 30,933,593	N292K	probably damaging	Het
Chst3	A	T	10: 60,186,439	Y195*	probably null	Het
Clmn	T	C	12: 104,774,523	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,893,913		probably null	Het
Cpeb3	A	T	19: 37,024,948	I688N	probably damaging	Het
Cpn2	A	T	16: 30,260,829	L18H	probably benign	Het
Crybg3	T	A	16: 59,555,179	H1904L	possibly damaging	Het
Csde1	C	T	3: 103,043,839	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,844,140	L377P	probably damaging	Het
Dmwd	A	T	7: 19,081,129	K568M	probably damaging	Het
Dsg2	T	C	18: 20,579,077	I90T	probably damaging	Het
Edc4	G	A	8: 105,887,311		probably null	Het
Elac1	G	T	18: 73,738,914	Q337K	probably benign	Het
Exd2	G	T	12: 80,489,411	A272S	probably damaging	Het
F13b	A	G	1: 139,508,115	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,583,124	R276S	possibly damaging	Het
Fn1	A	C	1: 71,629,773	L671R	probably damaging	Het
Frem1	A	T	4: 82,959,339	F1334I	possibly damaging	Het
Gm6614	T	G	6: 142,008,607	I47L	possibly damaging	Het
H2-T23	T	A	17: 36,032,357	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 138,228,732	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,608,937	M632V	probably damaging	Het
Klra5	T	A	6: 129,908,867	S20C	probably damaging	Het
Lancl1	A	T	1: 67,006,915	C276S	probably damaging	Het
Lect2	A	G	13: 56,542,707	*152Q	probably null	Het
Maff	C	A	15: 79,357,458	S25*	probably null	Het
Mtr	A	G	13: 12,247,377	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,163,696	Y236*	probably null	Het
Neb	A	C	2: 52,244,153	Y3273D	probably damaging	Het
Nup133	A	T	8: 123,946,594	I66K	probably benign	Het
Olfr1215	T	C	2: 89,002,115	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,783,861	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Ptk2b	T	A	14: 66,173,895		probably benign	Het
Pum3	G	A	19: 27,421,313	T279M	probably damaging	Het
Rabl6	C	T	2: 25,584,856	G614D	probably benign	Het
Ripk3	T	C	14: 55,787,339	D128G	probably benign	Het
Serinc4	A	T	2: 121,439,558		probably benign	Het
Sorbs2	T	C	8: 45,782,865	S322P	probably benign	Het
Srebf1	A	T	11: 60,220,458	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,768,874	L238S	probably damaging	Het
Supt20	T	A	3: 54,709,302	C298*	probably null	Het
Tbc1d19	A	G	5: 53,897,047	D459G	probably damaging	Het
Thegl	A	C	5: 77,016,350	K67Q	possibly damaging	Het
Ulk2	A	T	11: 61,834,834	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,864,621	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,738,214	M24I	probably benign	Het
Vil1	A	G	1: 74,419,612	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,116,900	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,952,692	Y579*	probably null	Het
Zdhhc3	A	T	9: 123,100,517	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,702,645	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,242,151	M271L	probably benign	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
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
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
Z1177:Dytn	UTSW	1	63633454	nonsense	probably null

Posted On

2016-08-02