Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02712:Dytn'

304620

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: 0.058) question?

Stock #

IGL02712

Quality Score

Status

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63664422 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 233 (T233A)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090313
AA Change: T233A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: T233A

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: 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
Angel1	A	G	12: 86,722,839		probably benign	Het
Arhgef33	T	A	17: 80,360,373	V289D	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Cabp5	A	G	7: 13,403,346	M93V	probably damaging	Het
Ces1a	A	C	8: 93,036,040	V201G	probably damaging	Het
Cisd1	A	G	10: 71,336,351	F34L	probably benign	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Ddx39	A	G	8: 83,721,757	I213V	probably benign	Het
Ddx59	A	T	1: 136,439,781	N542I	probably benign	Het
Fbxo7	A	G	10: 86,024,438	T49A	possibly damaging	Het
Fmnl2	C	A	2: 53,036,498		probably benign	Het
Golga2	G	T	2: 32,304,213	K610N	probably damaging	Het
Hipk4	T	C	7: 27,528,635	Y269H	probably damaging	Het
Ifi209	T	C	1: 173,642,701	V285A	possibly damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map3k13	T	G	16: 21,905,255	V329G	probably damaging	Het
Mrm3	T	C	11: 76,243,857	W29R	possibly damaging	Het
Nos1ap	T	C	1: 170,329,251	I213V	possibly damaging	Het
Nphp4	C	T	4: 152,556,275	T1033M	probably damaging	Het
Nr5a2	T	C	1: 136,940,528		probably null	Het
Nrcam	A	G	12: 44,573,827	Y885C	probably damaging	Het
Olfr23	T	C	11: 73,940,930	V228A	probably benign	Het
Olfr983	T	C	9: 40,092,786	H60R	probably damaging	Het
Ovgp1	T	A	3: 105,986,513		probably benign	Het
Pdzd2	T	C	15: 12,376,027	S1341G	probably benign	Het
Pld2	T	G	11: 70,557,079	L856R	probably benign	Het
Plod1	A	G	4: 147,918,887	F494L	possibly damaging	Het
Pnkd	T	A	1: 74,349,868	S233T	possibly damaging	Het
Rnf144b	T	C	13: 47,239,779	I198T	probably damaging	Het
Rsc1a1	G	T	4: 141,685,065	Q179K	probably benign	Het
Slc5a10	C	T	11: 61,707,806	W249*	probably null	Het
Slc9a3r1	T	C	11: 115,177,234	V200A	possibly damaging	Het
Spata32	T	G	11: 103,208,147		probably benign	Het
Stk4	T	A	2: 164,096,897	H228Q	probably damaging	Het
Szt2	T	A	4: 118,384,833	Q1592L	probably benign	Het
Tnc	T	A	4: 63,975,256	I1598F	probably damaging	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Ttll6	T	G	11: 96,139,775		probably benign	Het
Vmn2r118	A	G	17: 55,592,655	S750P	probably benign	Het
Zswim5	C	T	4: 116,985,695	T879I	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
IGL02211:Dytn	APN	1	63674930	missense	possibly damaging	0.61
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

Posted On

2015-04-16