Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00391:Elmod1'

332361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elmod1

Ensembl Gene

ENSMUSG00000041986

Gene Name

ELMO/CED-12 domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

53911457-53975301 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 53924398 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129082 (fasta)

Gene Model

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

Predicted Effect

probably null
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 null
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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,724,224	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,821,542	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,337,933		probably benign	Het
Ccr5	T	A	9: 124,124,406	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,915,561	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,674,262	M85T	probably damaging	Het
Col6a3	T	A	1: 90,828,255	H104L	probably damaging	Het
Coq9	A	T	8: 94,850,517	K170M	probably damaging	Het
Fam47e	A	C	5: 92,579,663	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725	K146E	probably damaging	Het
Gm5346	A	T	8: 43,625,629	F519L	probably damaging	Het
Hrasls5	A	T	19: 7,619,266		probably benign	Het
Myo7b	A	C	18: 32,021,556		probably benign	Het
Nmur1	G	A	1: 86,386,471	R381C	probably damaging	Het
Nsd2	T	G	5: 33,855,733	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,590,439	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439	Y85C	probably damaging	Het
Otof	A	G	5: 30,375,623	C1587R	probably damaging	Het
Plekha2	A	G	8: 25,057,327	V247A	probably damaging	Het
Plppr5	A	T	3: 117,671,943	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,317,826		probably null	Het
Ppp1r12a	A	G	10: 108,198,848	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,606,984	S262G	probably benign	Het
Sspo	G	A	6: 48,497,386	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,916,061	E4621G	probably damaging	Het

Other mutations in Elmod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0592:Elmod1	UTSW	9	53926106	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

Posted On

2015-08-05