Mutagenetix > Incidental Mutations

Incidental Mutation 'R7595:Dytn'

587655

Institutional Source

Beutler Lab

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7595 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63659002 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 282 (E282G)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090313
AA Change: E282G

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

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: E282G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Adamts16	A	G	13: 70,730,115	F1177S	probably damaging	Het
Alox12	T	A	11: 70,242,404	E658V	probably damaging	Het
Anxa6	C	A	11: 54,985,085	V591L	probably benign	Het
Atp6ap1l	A	T	13: 90,891,016	S141T	probably damaging	Het
Bcar1	A	C	8: 111,720,993	N117K	probably benign	Het
Cdh22	A	G	2: 165,112,463	S713P	probably benign	Het
Cideb	T	C	14: 55,754,804	D144G	probably damaging	Het
Coch	T	A	12: 51,598,233	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,331,892	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,071,633	L331R	probably damaging	Het
Dthd1	A	G	5: 62,818,715	D244G	probably benign	Het
Eml4	A	G	17: 83,456,084	Q576R	probably benign	Het
Fa2h	T	A	8: 111,355,490	I175F	probably benign	Het
Fv1	A	G	4: 147,870,170	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm4778	A	G	3: 94,266,678	E327G	probably benign	Het
Gm5286	A	G	3: 94,198,417	D14G	probably benign	Het
Gm5592	A	G	7: 41,286,443	D123G	probably damaging	Het
Golph3l	A	G	3: 95,609,783	T201A	probably benign	Het
Ikbip	A	G	10: 91,096,585	S364G	probably benign	Het
Kcnc3	G	A	7: 44,591,469	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,608,966	D641E	probably benign	Het
Kif26a	C	T	12: 112,179,325	P1757S	probably benign	Het
Klf14	T	C	6: 30,958,540	K53R	probably benign	Het
Klk1b4	A	G	7: 44,210,708	D82G	probably benign	Het
Ly75	A	G	2: 60,293,827	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 40,003,225	Y225*	probably null	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Olfr44	A	C	9: 39,484,315	F313V	probably benign	Het
Pcsk4	T	A	10: 80,322,101	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,495,521	D375E	probably damaging	Het
Primpol	A	G	8: 46,610,615	L2S	probably benign	Het
Ralgapb	G	A	2: 158,426,165	V63I	possibly damaging	Het
Rptor	T	A	11: 119,743,953	N198K	possibly damaging	Het
Samd5	T	C	10: 9,628,994	N172S	probably benign	Het
Sorbs1	A	T	19: 40,314,653	H542Q	probably damaging	Het
Srgn	T	A	10: 62,508,006		probably benign	Het
Taar6	C	T	10: 23,985,070	V193I	probably benign	Het
Tmem132a	G	A	19: 10,858,205	A987V	probably damaging	Het
Trank1	T	C	9: 111,365,991	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,958,069	L714P	probably benign	Het
Wdfy4	C	T	14: 32,974,154		probably null	Het
Zswim9	T	C	7: 13,261,072	D386G	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
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
R7705:Dytn	UTSW	1	63678789	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTATGCTGGCTGTGTCAG -3'
(R):5'- AGGCTTGAACTGATCTGATGC -3'

Sequencing Primer
(F):5'- TGTGTCAGCAGCACCCAC -3'
(R):5'- CTGGCCTGATTTTATGACTTTTATTC -3'

Posted On

2019-10-24