Mutagenetix > Incidental Mutations

Incidental Mutation 'R7705:Dytn'

594213

Institutional Source

Beutler Lab

Gene Symbol

Dytn

Ensembl Gene

ENSMUSG00000069085

Gene Name

dystrotelin

Synonyms

LOC241073

Accession Numbers

Is this an essential gene?

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

Stock #

R7705 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63622851-63686927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63678789 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 29 (L29P)

Ref Sequence

ENSEMBL: ENSMUSP00000087787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090313
AA Change: L29P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087787
Gene: ENSMUSG00000069085
AA Change: L29P

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,182,252	F359V	probably damaging	Het
Abcb9	G	T	5: 124,081,955	Y342*	probably null	Het
Acad9	C	T	3: 36,088,526	T470M	probably benign	Het
Ankmy2	A	G	12: 36,195,108	E379G	probably benign	Het
Cand1	A	G	10: 119,212,438		probably null	Het
Ccdc171	A	G	4: 83,557,956	T203A	possibly damaging	Het
Cpeb4	A	G	11: 31,872,327	T14A	probably damaging	Het
Crtap	A	T	9: 114,381,679	C276S	probably damaging	Het
Csf2rb2	T	C	15: 78,284,574	I794V	probably benign	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cux2	T	A	5: 121,869,673	M642L	probably benign	Het
Dpep1	T	C	8: 123,200,721	V338A	possibly damaging	Het
E2f3	G	A	13: 29,985,323	R116C	probably benign	Het
Edc3	T	C	9: 57,739,914	V282A	probably benign	Het
Epha1	A	G	6: 42,362,668	V630A	probably damaging	Het
Erc1	A	G	6: 119,824,603	I151T	probably benign	Het
Fam83h	C	T	15: 76,003,850	R546H	probably damaging	Het
Fbxl14	A	T	6: 119,480,781	K308*	probably null	Het
Gldn	T	A	9: 54,338,692	M509K	probably benign	Het
Gm14085	A	C	2: 122,521,629		probably null	Het
Gm4969	T	A	7: 19,101,119	D393V	unknown	Het
Gm8298	G	A	3: 59,876,747	A214T	probably benign	Het
Gpr139	T	C	7: 119,144,643	I240V	probably benign	Het
Herc1	G	T	9: 66,439,834	M1990I	possibly damaging	Het
Hmgcr	A	G	13: 96,656,723	I467T	probably benign	Het
Isl2	T	C	9: 55,542,401	F85L	probably benign	Het
Lat	T	C	7: 126,364,440	N197D	probably damaging	Het
March1	T	C	8: 66,468,517	V282A	probably benign	Het
Mrpl9	A	G	3: 94,443,768	H85R	possibly damaging	Het
Mterf2	G	T	10: 85,120,517	A81E	probably damaging	Het
Mtr	A	G	13: 12,249,896	C107R	probably benign	Het
Nlrp4c	T	A	7: 6,072,636	V642E	probably damaging	Het
Olfr1445	A	G	19: 12,884,507	I209V	probably benign	Het
Olfr805	T	A	10: 129,723,149	I132F	probably benign	Het
Pdik1l	A	G	4: 134,279,493	S112P	unknown	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Rest	T	A	5: 77,268,272	L111Q	probably damaging	Het
Spg7	A	C	8: 123,073,878	D169A	possibly damaging	Het
Syt3	T	C	7: 44,392,659	V314A	possibly damaging	Het
Tbc1d20	G	C	2: 152,308,084	G144R	probably damaging	Het
Tmem147	T	G	7: 30,728,291		probably null	Het
Trip12	A	T	1: 84,777,449	D401E	probably damaging	Het
Ulbp1	A	G	10: 7,445,685	S291P	unknown	Het
Usp19	A	G	9: 108,501,913	D1286G	possibly damaging	Het
Usp49	T	C	17: 47,678,948	F553L	probably damaging	Het
Zfp352	A	G	4: 90,225,275	T551A	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
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
R7595:Dytn	UTSW	1	63659002	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTATTGCTGTCAGTGAAGCAAC -3'
(R):5'- GTCTCACTTACAAGGTGAGGCTC -3'

Sequencing Primer
(F):5'- AGTGGACTGCTCACAATGGTCTC -3'
(R):5'- CACTTACAAGGTGAGGCTCTAGGAG -3'

Posted On

2019-11-12