Mutagenetix > Incidental Mutations

Incidental Mutation 'R0592:Elmod1'

56027

Institutional Source

Beutler Lab

Gene Symbol

Elmod1

Ensembl Gene

ENSMUSG00000041986

Gene Name

ELMO/CED-12 domain containing 1

Synonyms

MMRRC Submission

038782-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53911457-53975301 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53926106 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048409] [ENSMUST00000166580]

Predicted Effect

probably benign
Transcript: ENSMUST00000048409

SMART Domains

Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	117	295	3.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166580

SMART Domains

Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	114	296	9.6e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216880

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous allele exhibit circling, absent startle reflex, deafness, organ of Corti degeneration and abnormal cochlear hair stereociliary bundle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
Bbs7	A	T	3: 36,610,297	V53D	probably benign	Het
Bglap	T	A	3: 88,383,655	I90F	probably benign	Het
C2cd4b	G	A	9: 67,760,691	R323H	probably damaging	Het
Cdh5	T	A	8: 104,130,902		probably null	Het
Cdh8	T	A	8: 99,279,478	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,456,612	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 118,902,139	E381G	probably damaging	Het
Exosc10	T	C	4: 148,581,113	S811P	probably benign	Het
Fhl3	A	G	4: 124,705,677	Y15C	probably benign	Het
Gstz1	G	A	12: 87,163,721	S126N	probably benign	Het
Hey2	C	A	10: 30,833,957	A267S	probably benign	Het
Iqce	A	T	5: 140,686,107		probably null	Het
Katnal2	A	T	18: 77,002,560		probably null	Het
Kdm2b	G	A	5: 122,961,134		probably benign	Het
Mov10l1	A	G	15: 88,998,766		probably null	Het
Numa1	A	G	7: 102,013,897	T724A	probably benign	Het
Oas3	A	G	5: 120,771,149	F244S	probably damaging	Het
Olfr1472	T	C	19: 13,453,705	I271V	probably benign	Het
Olfr715	G	A	7: 107,129,343	L17F	probably benign	Het
Ppil2	A	G	16: 17,107,219	S30P	probably benign	Het
Rab37	T	G	11: 115,160,523		probably benign	Het
Riox2	T	C	16: 59,489,579		probably benign	Het
Ryr3	A	G	2: 112,678,481	S3358P	probably damaging	Het
Sash1	T	A	10: 8,729,782	H948L	probably benign	Het
Serpinb6e	T	A	13: 33,841,074	N78I	probably damaging	Het
Slc25a47	G	A	12: 108,854,258	V63M	probably damaging	Het
Slc9b1	A	T	3: 135,394,074		probably benign	Het
Strip2	T	A	6: 29,931,210	S387T	probably benign	Het
Tcaf3	T	C	6: 42,596,843	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Trmu	T	C	15: 85,896,826		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn2r116	C	T	17: 23,386,915	T267I	probably damaging	Het
Whrn	C	A	4: 63,415,567	A450S	probably damaging	Het

Other mutations in Elmod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Elmod1	APN	9	53924398	critical splice donor site	probably null
IGL01803:Elmod1	APN	9	53931480	missense	probably benign	0.01
IGL01966:Elmod1	APN	9	53921327	missense	probably benign	0.00
IGL02354:Elmod1	APN	9	53931558	missense	probably damaging	1.00
IGL02361:Elmod1	APN	9	53931558	missense	probably damaging	1.00
IGL03107:Elmod1	APN	9	53934223	splice site	probably benign
IGL03277:Elmod1	APN	9	53925988	missense	probably damaging	1.00
R0013:Elmod1	UTSW	9	53912901	splice site	probably benign
R0013:Elmod1	UTSW	9	53912901	splice site	probably benign
R0243:Elmod1	UTSW	9	53935547	splice site	probably benign
R0530:Elmod1	UTSW	9	53925976	missense	probably damaging	0.96
R0555:Elmod1	UTSW	9	53931592	splice site	probably benign
R0670:Elmod1	UTSW	9	53912822	missense	probably damaging	0.96
R1054:Elmod1	UTSW	9	53912774	missense	probably benign	0.02
R1195:Elmod1	UTSW	9	53935768	missense	probably damaging	1.00
R1195:Elmod1	UTSW	9	53935768	missense	probably damaging	1.00
R1195:Elmod1	UTSW	9	53935768	missense	probably damaging	1.00
R1875:Elmod1	UTSW	9	53935867	missense	probably benign	0.00
R4445:Elmod1	UTSW	9	53934129	missense	probably damaging	1.00
R4573:Elmod1	UTSW	9	53925972	missense	probably damaging	1.00
R5895:Elmod1	UTSW	9	53935807	missense	probably damaging	0.99
R6826:Elmod1	UTSW	9	53919599	missense	probably benign	0.02
R7181:Elmod1	UTSW	9	53934098	splice site	probably null
R7334:Elmod1	UTSW	9	53934224	splice site	probably null
R7422:Elmod1	UTSW	9	53912843	missense	probably damaging	0.99
R7964:Elmod1	UTSW	9	53931576	missense	probably benign	0.00
R8511:Elmod1	UTSW	9	53912811	missense	probably damaging	1.00
Z1088:Elmod1	UTSW	9	53919614	missense	probably benign	0.00
Z1176:Elmod1	UTSW	9	53946860	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- ACAGACTAGCACATTGCCCTAATGC -3'
(R):5'- ACACCAGGTGACCTCAACATTTTCC -3'

Sequencing Primer
(F):5'- ATTGCCCTAATGCTCAACCATC -3'
(R):5'- TTGTCTTCAAAGCAACAGCTC -3'

Posted On

2013-07-11