Mutagenetix > Incidental Mutations

Incidental Mutation 'R0306:Dytn'

35775

Institutional Source

Beutler Lab

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

MMRRC Submission

038517-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63685113 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 3 (P3S)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090313
AA Change: P3S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: P3S

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

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,179,889	V270A	probably damaging	Het
BC028528	C	T	3: 95,889,820		probably benign	Het
Bspry	T	C	4: 62,496,157	F329S	probably damaging	Het
Cd209a	A	G	8: 3,745,535	Y120H	probably benign	Het
Ces1f	T	C	8: 93,276,544		probably benign	Het
Cfap52	T	C	11: 67,954,070	N58D	probably benign	Het
Cfap74	G	A	4: 155,465,439		probably benign	Het
Chst8	T	C	7: 34,675,298	E372G	probably benign	Het
Ddx49	A	G	8: 70,294,672		probably benign	Het
Ddx52	G	T	11: 83,944,648	L133F	probably benign	Het
Defb26	T	A	2: 152,507,968	I131F	unknown	Het
Dip2c	T	A	13: 9,604,599	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Doxl2	T	C	6: 48,976,086	V315A	probably damaging	Het
Fmn2	T	C	1: 174,609,484		probably benign	Het
Gal3st1	T	A	11: 3,998,546	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,127,408		probably benign	Het
Il15	T	A	8: 82,334,454		probably benign	Het
Jag1	C	T	2: 137,085,935	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,914,186		probably benign	Het
Kdm3b	C	A	18: 34,804,017	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,096,255	I469F	probably damaging	Het
Mep1a	A	T	17: 43,502,643		probably benign	Het
Morn5	T	C	2: 36,054,974	F70S	probably damaging	Het
Nav2	C	A	7: 49,545,903	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,807,650	Y334C	probably damaging	Het
Nsun4	A	T	4: 116,052,822	Y180*	probably null	Het
Nup210l	T	C	3: 90,207,368	I1750T	probably benign	Het
Olfr1044	T	A	2: 86,171,716	I34F	possibly damaging	Het
Olfr473	A	T	7: 107,933,700	Y60F	probably damaging	Het
Olfr571	A	T	7: 102,909,803	I12N	probably benign	Het
Parp14	A	G	16: 35,856,574	L1008P	probably benign	Het
Paxbp1	A	G	16: 91,022,115	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,316,224	Q42K	probably damaging	Het
Prkcsh	T	C	9: 22,006,526		probably benign	Het
Psmg1	A	G	16: 95,987,340	C138R	probably damaging	Het
Ptprb	T	C	10: 116,343,988	M1437T	probably benign	Het
Ryr3	A	G	2: 112,775,655		probably null	Het
Serpinf1	T	C	11: 75,413,935	Y200C	probably damaging	Het
Shox2	T	C	3: 66,973,834	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,662,598	F335L	probably benign	Het
Slc44a5	A	G	3: 154,270,001	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,137,934	T519S	probably benign	Het
Smarca2	T	A	19: 26,640,613	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,344,411	D521G	possibly damaging	Het
Sorbs2	A	T	8: 45,795,730	T593S	probably benign	Het
Srp19	T	C	18: 34,334,576		probably benign	Het
Stk35	T	A	2: 129,801,763	Y222*	probably null	Het
Syt10	T	G	15: 89,826,988	K114T	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,636,260	V662A	probably benign	Het
Ttll4	G	A	1: 74,696,757	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,518,576		probably benign	Het
Unc5b	C	A	10: 60,779,658		probably benign	Het
Vmn1r230	T	A	17: 20,846,633	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,608,616	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,570,182	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,617,197	A292E	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTCCTCCACGGCTTACTG -3'
(R):5'- GCTGCCCCGTAGGTGAATGATTCC -3'

Sequencing Primer
(F):5'- TACCAAATACCTGCTTAGTGACAG -3'
(R):5'- AGGTGAATGATTCCTCGGC -3'

Posted On

2013-05-09