Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63662010-63726086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63724272 bp (GRCm39)

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]

AlphaFold

A2CI98

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
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Dytn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dytn	APN	1	63,717,999 (GRCm39)	missense	probably benign	0.34
IGL00870:Dytn	APN	1	63,716,272 (GRCm39)	splice site	probably benign
IGL02110:Dytn	APN	1	63,686,632 (GRCm39)	missense	possibly damaging	0.86
IGL02124:Dytn	APN	1	63,680,251 (GRCm39)	missense	probably damaging	1.00
IGL02211:Dytn	APN	1	63,714,089 (GRCm39)	missense	possibly damaging	0.61
IGL02712:Dytn	APN	1	63,703,581 (GRCm39)	missense	probably benign	0.00
IGL02832:Dytn	APN	1	63,682,532 (GRCm39)	missense	probably benign	0.45
IGL03036:Dytn	APN	1	63,680,281 (GRCm39)	missense	probably damaging	0.97
H8562:Dytn	UTSW	1	63,714,071 (GRCm39)	missense	possibly damaging	0.88
R0441:Dytn	UTSW	1	63,717,933 (GRCm39)	splice site	probably benign
R1453:Dytn	UTSW	1	63,673,032 (GRCm39)	missense	probably damaging	0.99
R1655:Dytn	UTSW	1	63,700,357 (GRCm39)	missense	probably damaging	1.00
R1892:Dytn	UTSW	1	63,716,420 (GRCm39)	missense	probably benign	0.04
R3030:Dytn	UTSW	1	63,672,678 (GRCm39)	missense	probably benign	0.04
R4062:Dytn	UTSW	1	63,686,606 (GRCm39)	missense	probably benign	0.05
R4640:Dytn	UTSW	1	63,682,507 (GRCm39)	missense	possibly damaging	0.52
R4804:Dytn	UTSW	1	63,682,525 (GRCm39)	missense	probably benign	0.08
R4931:Dytn	UTSW	1	63,672,837 (GRCm39)	missense	probably benign	0.26
R5015:Dytn	UTSW	1	63,672,854 (GRCm39)	missense	probably benign	0.00
R5054:Dytn	UTSW	1	63,700,318 (GRCm39)	missense	possibly damaging	0.64
R5120:Dytn	UTSW	1	63,662,202 (GRCm39)	missense	probably benign
R5888:Dytn	UTSW	1	63,716,396 (GRCm39)	missense	possibly damaging	0.91
R6243:Dytn	UTSW	1	63,686,680 (GRCm39)	missense	possibly damaging	0.76
R6400:Dytn	UTSW	1	63,680,335 (GRCm39)	nonsense	probably null
R7595:Dytn	UTSW	1	63,698,161 (GRCm39)	missense	probably damaging	0.99
R7705:Dytn	UTSW	1	63,717,948 (GRCm39)	missense	probably damaging	1.00
R8445:Dytn	UTSW	1	63,686,673 (GRCm39)	missense	probably benign	0.04
R8745:Dytn	UTSW	1	63,686,606 (GRCm39)	missense	probably benign	0.00
R8952:Dytn	UTSW	1	63,698,111 (GRCm39)	missense
R9227:Dytn	UTSW	1	63,686,611 (GRCm39)	missense	probably benign	0.00
R9230:Dytn	UTSW	1	63,686,611 (GRCm39)	missense	probably benign	0.00
R9447:Dytn	UTSW	1	63,700,302 (GRCm39)	missense
Z1177:Dytn	UTSW	1	63,672,613 (GRCm39)	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