Mutagenetix > Incidental Mutations

Incidental Mutation 'R4640:Dytn'

351595

Institutional Source

Beutler Lab

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

MMRRC Submission

041902-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4640 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63643348 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 380 (L380P)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090313
AA Change: L380P

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: L380P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adgrl4	T	C	3: 151,500,310		probably benign	Het
Ano4	C	T	10: 88,954,697	A847T	probably damaging	Het
Atp11a	A	G	8: 12,828,434		probably benign	Het
Cct4	T	A	11: 23,002,297	S463T	probably benign	Het
Cnmd	T	C	14: 79,656,653	N98S	probably damaging	Het
Copz2	A	T	11: 96,856,707	Q172L	possibly damaging	Het
Ctdp1	C	A	18: 80,451,154		probably null	Het
Cyfip1	C	T	7: 55,913,451	T865I	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,832	D466V	possibly damaging	Het
Fam124b	G	A	1: 80,213,526	R47C	probably damaging	Het
Foxe3	G	A	4: 114,925,775	A80V	probably damaging	Het
Gm5884	A	G	6: 128,645,771		noncoding transcript	Het
Kera	A	T	10: 97,612,887	Y323F	probably damaging	Het
Lipf	A	T	19: 33,968,797	Y205F	probably damaging	Het
Lipo2	T	C	19: 33,720,837	E380G	probably benign	Het
Mcm2	A	T	6: 88,887,804	H563Q	possibly damaging	Het
Mindy3	T	C	2: 12,348,163	E409G	probably benign	Het
Mns1	A	G	9: 72,439,282	K16E	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nlrp4g	T	C	9: 124,349,153		noncoding transcript	Het
Nrxn1	A	G	17: 90,560,768	S1105P	probably damaging	Het
Odf2l	G	A	3: 145,128,945	R186H	probably damaging	Het
Olfr309	T	A	7: 86,307,066	T16S	probably benign	Het
Olfr709-ps1	T	C	7: 106,926,593	I289V	possibly damaging	Het
Phxr2	T	C	10: 99,126,069		probably benign	Het
Plcxd3	T	C	15: 4,517,243	F243S	probably damaging	Het
Ppp1r27	T	C	11: 120,550,727	N76D	possibly damaging	Het
Ptprz1	A	G	6: 22,972,798	T236A	probably damaging	Het
Pyroxd1	C	G	6: 142,354,741	S199*	probably null	Het
R3hdm1	T	C	1: 128,175,238		probably benign	Het
Sall2	T	A	14: 52,315,159	Q193L	probably damaging	Het
Srpk1	T	C	17: 28,608,724	S39G	probably benign	Het
Tcaf3	A	G	6: 42,587,579	V883A	probably damaging	Het
Tmem104	T	A	11: 115,243,724	V362E	probably damaging	Het
Wdr66	G	T	5: 123,302,432	V1094L	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
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
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'- AGCTAGATGATGTTCCTTCTGCC -3'
(R):5'- ACATCAGCCAGTTTGTAAGATACTG -3'

Sequencing Primer
(F):5'- AACTTCACATTGATGGGAGTTTC -3'
(R):5'- CATTGTGCTCGTATGACAA -3'

Posted On

2015-10-08