Mutagenetix > Incidental Mutations

Incidental Mutation 'R4471:Eml1'

329455

Institutional Source

Beutler Lab

Gene Symbol

Eml1

Ensembl Gene

ENSMUSG00000058070

Gene Name

echinoderm microtubule associated protein like 1

Synonyms

A930030P13Rik, ELP79, 1110008N23Rik

MMRRC Submission

041728-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108370957-108539617 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 108506635 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054955] [ENSMUST00000109857] [ENSMUST00000109860] [ENSMUST00000130999]

Predicted Effect

probably benign
Transcript: ENSMUST00000054955

SMART Domains

Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
low complexity region	72	84	N/A	INTRINSIC
low complexity region	119	146	N/A	INTRINSIC
WD40	228	277	5.6e-3	SMART
WD40	280	325	2.21e1	SMART
WD40	328	367	4.46e-1	SMART
WD40	375	413	5.73e0	SMART
WD40	416	456	5.75e-1	SMART
WD40	496	539	4.24e-3	SMART
WD40	542	580	1.37e2	SMART
WD40	583	622	1.7e-2	SMART
WD40	629	668	1.58e-2	SMART
Blast:WD40	694	735	7e-20	BLAST
WD40	741	781	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109857

SMART Domains

Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
low complexity region	72	84	N/A	INTRINSIC
low complexity region	119	146	N/A	INTRINSIC
WD40	245	294	5.6e-3	SMART
WD40	297	342	2.21e1	SMART
WD40	345	384	4.46e-1	SMART
WD40	392	430	5.73e0	SMART
WD40	433	473	5.75e-1	SMART
WD40	513	556	4.24e-3	SMART
WD40	559	597	1.37e2	SMART
WD40	600	639	1.7e-2	SMART
WD40	646	685	1.58e-2	SMART
Blast:WD40	711	752	7e-20	BLAST
WD40	758	798	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109860

SMART Domains

Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
coiled coil region	31	72	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	150	177	N/A	INTRINSIC
Pfam:HELP	184	258	1.8e-35	PFAM
WD40	259	308	5.6e-3	SMART
WD40	311	356	2.21e1	SMART
WD40	359	398	4.46e-1	SMART
WD40	406	444	5.73e0	SMART
WD40	447	487	5.75e-1	SMART
WD40	527	570	4.24e-3	SMART
WD40	573	611	1.37e2	SMART
WD40	614	653	1.7e-2	SMART
WD40	660	699	1.58e-2	SMART
Blast:WD40	725	766	7e-20	BLAST
WD40	772	812	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130999

SMART Domains

Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
coiled coil region	31	72	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	150	177	N/A	INTRINSIC
WD40	259	308	5.6e-3	SMART
WD40	311	356	2.21e1	SMART
WD40	359	398	4.46e-1	SMART
WD40	406	444	5.73e0	SMART
WD40	447	487	5.75e-1	SMART
WD40	527	570	4.24e-3	SMART
WD40	573	611	1.37e2	SMART
WD40	614	653	1.7e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155544

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,536,571	L212P	probably damaging	Het
AF067061	G	T	13: 120,264,043	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724		probably null	Het
Cdc34b	A	G	11: 94,742,238	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476		probably null	Het
Ceacam1	T	A	7: 25,474,600	N210I	possibly damaging	Het
Celf3	A	G	3: 94,488,278		probably null	Het
Cmya5	A	T	13: 93,092,325	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946	V316A	possibly damaging	Het
Ern1	C	A	11: 106,420,042	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673	D146E	probably benign	Het
Git1	A	G	11: 77,499,824	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922		probably benign	Het
Hydin	A	G	8: 110,587,132	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726		probably benign	Het
Mdn1	A	G	4: 32,668,860	E306G	probably benign	Het
Msc	G	C	1: 14,755,678	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053		probably benign	Het
Mvp	C	T	7: 127,001,958	M1I	probably null	Het
Myh7	A	T	14: 54,991,854	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896		probably benign	Het
Nrxn3	T	C	12: 90,204,741	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,582,820		probably benign	Het
Rest	T	C	5: 77,281,180	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658	S476T	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948		probably benign	Het
Slc5a4b	G	A	10: 76,058,891	Q594*	probably null	Het
Slk	T	G	19: 47,615,423	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817		probably null	Het
Taf2	T	C	15: 55,058,880	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057	V230A	probably benign	Het
Ube2u	G	A	4: 100,481,646	W36*	probably null	Het
Ube4a	A	T	9: 44,946,532		probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787		probably null	Het
Zfp24	A	G	18: 24,018,115		probably benign	Het
Zfp777	A	T	6: 48,042,107	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331	L2633Q	probably damaging	Het

Other mutations in Eml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Eml1	APN	12	108514515	splice site	probably null
IGL00774:Eml1	APN	12	108514515	splice site	probably null
IGL01358:Eml1	APN	12	108514468	missense	probably benign	0.05
IGL02316:Eml1	APN	12	108534759	intron	probably benign
IGL02346:Eml1	APN	12	108537441	missense	possibly damaging	0.87
IGL02480:Eml1	APN	12	108521696	missense	probably benign	0.32
IGL02513:Eml1	APN	12	108530312	missense	probably damaging	1.00
IGL02556:Eml1	APN	12	108537366	missense	probably benign	0.00
IGL02565:Eml1	APN	12	108506520	missense	probably damaging	1.00
IGL03217:Eml1	APN	12	108534942	missense	probably benign	0.31
bubble	UTSW	12	108513071	critical splice donor site	probably null
R0027:Eml1	UTSW	12	108536298	missense	possibly damaging	0.90
R0067:Eml1	UTSW	12	108463527	missense	possibly damaging	0.61
R0124:Eml1	UTSW	12	108506608	missense	probably benign	0.00
R0124:Eml1	UTSW	12	108509178	missense	probably damaging	1.00
R0730:Eml1	UTSW	12	108530326	missense	possibly damaging	0.79
R1566:Eml1	UTSW	12	108471892	missense	probably damaging	0.99
R1883:Eml1	UTSW	12	108463652	missense	probably damaging	0.97
R1927:Eml1	UTSW	12	108538217	nonsense	probably null
R1938:Eml1	UTSW	12	108521396	missense	possibly damaging	0.75
R2070:Eml1	UTSW	12	108512999	missense	probably damaging	1.00
R2311:Eml1	UTSW	12	108537416	missense	probably damaging	0.99
R2417:Eml1	UTSW	12	108536275	missense	probably benign	0.00
R3120:Eml1	UTSW	12	108513053	missense	probably benign	0.31
R4352:Eml1	UTSW	12	108534837	intron	probably benign
R4655:Eml1	UTSW	12	108534713	missense	probably damaging	1.00
R5077:Eml1	UTSW	12	108506612	splice site	probably benign
R5094:Eml1	UTSW	12	108536311	missense	probably benign	0.11
R5113:Eml1	UTSW	12	108537337	missense	possibly damaging	0.74
R5524:Eml1	UTSW	12	108521376	missense	probably damaging	0.99
R5775:Eml1	UTSW	12	108506554	missense	probably damaging	1.00
R6120:Eml1	UTSW	12	108527724	missense	probably damaging	1.00
R6224:Eml1	UTSW	12	108514508	missense	probably damaging	1.00
R6491:Eml1	UTSW	12	108513071	critical splice donor site	probably null
R7035:Eml1	UTSW	12	108509234	missense	probably damaging	1.00
R7134:Eml1	UTSW	12	108506551	missense	probably benign	0.00
R7273:Eml1	UTSW	12	108538173	missense	possibly damaging	0.87
R7606:Eml1	UTSW	12	108537366	missense	probably benign	0.45
R7744:Eml1	UTSW	12	108516604	missense	probably benign
R7820:Eml1	UTSW	12	108515174	missense	possibly damaging	0.81
R8013:Eml1	UTSW	12	108521679	missense	probably benign	0.18
R8223:Eml1	UTSW	12	108536310	missense	probably benign	0.00
R8258:Eml1	UTSW	12	108510199	missense	probably damaging	0.97
R8259:Eml1	UTSW	12	108510199	missense	probably damaging	0.97
R8399:Eml1	UTSW	12	108538131	missense	possibly damaging	0.91
R8427:Eml1	UTSW	12	108530321	missense	probably damaging	0.99
Z1088:Eml1	UTSW	12	108537459	missense	possibly damaging	0.80
Z1177:Eml1	UTSW	12	108423139	start gained	probably benign
Z1177:Eml1	UTSW	12	108534656	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCCCTACAAGCTAACC -3'
(R):5'- TTCCATGGCGTCCTTTCAGG -3'

Sequencing Primer
(F):5'- GAGGCATGTCACTGACACCTTC -3'
(R):5'- TCCTTTCAGGAAGACAGTGGGTAC -3'

Posted On

2015-07-21