Mutagenetix > Incidental Mutations

Incidental Mutation 'R1453:Dytn'

161583

Institutional Source

Beutler Lab

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

MMRRC Submission

039508-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 63633873 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 457 (S457C)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090313
AA Change: S457C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: S457C

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

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,422	D477G	possibly damaging	Het
Abca4	A	G	3: 122,069,114	I240M	probably benign	Het
Abcd3	A	T	3: 121,765,061	D595E	probably damaging	Het
Akap9	A	G	5: 3,975,614		probably null	Het
Arpc1b	A	G	5: 145,125,745	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 90,898,747	T104S	probably benign	Het
BC005537	T	C	13: 24,805,986		probably null	Het
Chrdl2	T	C	7: 100,016,990	V39A	possibly damaging	Het
Clmp	C	G	9: 40,782,441	S318W	probably damaging	Het
Cmas	T	C	6: 142,772,127	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,129,132	T80A	probably benign	Het
Ddx25	T	C	9: 35,542,002	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,188,872	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,857,249	V252I	probably benign	Het
Dnah2	T	C	11: 69,451,050	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,721,273		probably null	Het
Dppa4	G	A	16: 48,291,233	A194T	probably damaging	Het
Dst	T	C	1: 34,189,446	V2218A	possibly damaging	Het
Fndc3a	G	A	14: 72,540,328	Q1101*	probably null	Het
Focad	A	T	4: 88,357,442		probably null	Het
Gas2l2	T	A	11: 83,422,081	T802S	probably benign	Het
Gm5093	A	G	17: 46,439,696	F135S	probably benign	Het
Gmeb1	A	T	4: 132,242,448	D71E	possibly damaging	Het
Heatr5b	G	A	17: 78,817,563	R587C	probably damaging	Het
Hrasls5	A	G	19: 7,639,634		probably benign	Het
Jakmip2	T	C	18: 43,559,214		probably null	Het
Mier3	T	A	13: 111,705,244	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,765,042	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,671,676	K677R	probably benign	Het
Nhsl1	T	C	10: 18,531,575	S1486P	probably damaging	Het
Nup133	A	G	8: 123,915,375	I783T	probably benign	Het
Olfr262	A	T	19: 12,241,592	I23K	probably benign	Het
Olfr961	A	T	9: 39,647,163	T146S	probably benign	Het
Pigr	A	T	1: 130,841,544	I31L	probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Pramel6	T	A	2: 87,508,573	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,639,727		probably null	Het
Rinl	T	C	7: 28,796,904	C437R	probably damaging	Het
Shank1	T	C	7: 44,316,075	S192P	unknown	Het
Slc2a10	A	T	2: 165,517,650	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,366,943	L12H	probably damaging	Het
Slit2	T	A	5: 48,257,051	C970S	possibly damaging	Het
Stard9	T	C	2: 120,666,376	S119P	probably damaging	Het
Stim2	C	A	5: 54,116,109	D568E	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Traf3	A	G	12: 111,255,323	E306G	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll6	T	C	11: 96,158,888	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,769,178	K299E	probably benign	Het
Urb1	C	A	16: 90,796,492	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,444	E183D	probably damaging	Het
Zfp35	T	G	18: 24,003,500	Y300*	probably null	Het
Zfp414	C	T	17: 33,630,038	T33I	probably damaging	Het
Zfp938	C	T	10: 82,227,798		probably null	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
R0306:Dytn	UTSW	1	63685113	missense	possibly damaging	0.89
R0441:Dytn	UTSW	1	63678774	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CCCTGAACTTGCTTGACATTTGTGC -3'
(R):5'- GGCCCAAACTTGAAAACAGTGGAAC -3'

Sequencing Primer
(F):5'- GACATTTGTGCTTTCTGTCCAC -3'
(R):5'- TGAGCAAGTCCCAGTCTTATAC -3'

Posted On

2014-03-14