Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Eml1'

209297

Institutional Source

Beutler Lab

Gene Symbol

Eml1

Ensembl Gene

ENSMUSG00000058070

Gene Name

echinoderm microtubule associated protein like 1

Synonyms

1110008N23Rik, heco, A930030P13Rik, ELP79

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108337265-108505835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108429911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 65 (R65G)

Ref Sequence

ENSEMBL: ENSMUSP00000118325 (fasta)

Gene Model

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

AlphaFold

Q05BC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054955
AA Change: R34G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: R34G

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

possibly damaging
Transcript: ENSMUST00000109857
AA Change: R34G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: R34G

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

possibly damaging
Transcript: ENSMUST00000109860
AA Change: R65G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: R65G

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 damaging
Transcript: ENSMUST00000130999
AA Change: R65G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
AA Change: R65G

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Dusp8	C	T	7: 141,638,085 (GRCm39)		probably null	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Swt1	T	A	1: 151,299,284 (GRCm39)	K8*	probably null	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	probably benign	Het
Zp2	C	T	7: 119,732,624 (GRCm39)	D641N	probably benign	Het

Other mutations in Eml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Eml1	APN	12	108,480,774 (GRCm39)	splice site	probably null
IGL00774:Eml1	APN	12	108,480,774 (GRCm39)	splice site	probably null
IGL01358:Eml1	APN	12	108,480,727 (GRCm39)	missense	probably benign	0.05
IGL02316:Eml1	APN	12	108,501,018 (GRCm39)	intron	probably benign
IGL02346:Eml1	APN	12	108,503,700 (GRCm39)	missense	possibly damaging	0.87
IGL02480:Eml1	APN	12	108,487,955 (GRCm39)	missense	probably benign	0.32
IGL02513:Eml1	APN	12	108,496,571 (GRCm39)	missense	probably damaging	1.00
IGL02556:Eml1	APN	12	108,503,625 (GRCm39)	missense	probably benign	0.00
IGL02565:Eml1	APN	12	108,472,779 (GRCm39)	missense	probably damaging	1.00
IGL03217:Eml1	APN	12	108,501,201 (GRCm39)	missense	probably benign	0.31
bubble	UTSW	12	108,479,330 (GRCm39)	critical splice donor site	probably null
R0027:Eml1	UTSW	12	108,502,557 (GRCm39)	missense	possibly damaging	0.90
R0067:Eml1	UTSW	12	108,429,786 (GRCm39)	missense	possibly damaging	0.61
R0124:Eml1	UTSW	12	108,475,437 (GRCm39)	missense	probably damaging	1.00
R0124:Eml1	UTSW	12	108,472,867 (GRCm39)	missense	probably benign	0.00
R0730:Eml1	UTSW	12	108,496,585 (GRCm39)	missense	possibly damaging	0.79
R1566:Eml1	UTSW	12	108,438,151 (GRCm39)	missense	probably damaging	0.99
R1927:Eml1	UTSW	12	108,504,476 (GRCm39)	nonsense	probably null
R1938:Eml1	UTSW	12	108,487,655 (GRCm39)	missense	possibly damaging	0.75
R2070:Eml1	UTSW	12	108,479,258 (GRCm39)	missense	probably damaging	1.00
R2311:Eml1	UTSW	12	108,503,675 (GRCm39)	missense	probably damaging	0.99
R2417:Eml1	UTSW	12	108,502,534 (GRCm39)	missense	probably benign	0.00
R3120:Eml1	UTSW	12	108,479,312 (GRCm39)	missense	probably benign	0.31
R4352:Eml1	UTSW	12	108,501,096 (GRCm39)	intron	probably benign
R4471:Eml1	UTSW	12	108,472,894 (GRCm39)	intron	probably benign
R4655:Eml1	UTSW	12	108,500,972 (GRCm39)	missense	probably damaging	1.00
R5077:Eml1	UTSW	12	108,472,871 (GRCm39)	splice site	probably benign
R5094:Eml1	UTSW	12	108,502,570 (GRCm39)	missense	probably benign	0.11
R5113:Eml1	UTSW	12	108,503,596 (GRCm39)	missense	possibly damaging	0.74
R5524:Eml1	UTSW	12	108,487,635 (GRCm39)	missense	probably damaging	0.99
R5775:Eml1	UTSW	12	108,472,813 (GRCm39)	missense	probably damaging	1.00
R6120:Eml1	UTSW	12	108,493,983 (GRCm39)	missense	probably damaging	1.00
R6224:Eml1	UTSW	12	108,480,767 (GRCm39)	missense	probably damaging	1.00
R6491:Eml1	UTSW	12	108,479,330 (GRCm39)	critical splice donor site	probably null
R7035:Eml1	UTSW	12	108,475,493 (GRCm39)	missense	probably damaging	1.00
R7134:Eml1	UTSW	12	108,472,810 (GRCm39)	missense	probably benign	0.00
R7273:Eml1	UTSW	12	108,504,432 (GRCm39)	missense	possibly damaging	0.87
R7606:Eml1	UTSW	12	108,503,625 (GRCm39)	missense	probably benign	0.45
R7744:Eml1	UTSW	12	108,482,863 (GRCm39)	missense	probably benign
R7820:Eml1	UTSW	12	108,481,433 (GRCm39)	missense	possibly damaging	0.81
R8013:Eml1	UTSW	12	108,487,938 (GRCm39)	missense	probably benign	0.18
R8223:Eml1	UTSW	12	108,502,569 (GRCm39)	missense	probably benign	0.00
R8258:Eml1	UTSW	12	108,476,458 (GRCm39)	missense	probably damaging	0.97
R8259:Eml1	UTSW	12	108,476,458 (GRCm39)	missense	probably damaging	0.97
R8399:Eml1	UTSW	12	108,504,390 (GRCm39)	missense	possibly damaging	0.91
R8427:Eml1	UTSW	12	108,496,580 (GRCm39)	missense	probably damaging	0.99
R9002:Eml1	UTSW	12	108,504,438 (GRCm39)	missense	probably damaging	1.00
R9220:Eml1	UTSW	12	108,480,702 (GRCm39)	nonsense	probably null
R9432:Eml1	UTSW	12	108,482,842 (GRCm39)	missense	probably benign	0.00
R9446:Eml1	UTSW	12	108,481,465 (GRCm39)	missense	probably damaging	0.98
R9500:Eml1	UTSW	12	108,493,958 (GRCm39)	missense	probably damaging	1.00
Z1088:Eml1	UTSW	12	108,503,718 (GRCm39)	missense	possibly damaging	0.80
Z1177:Eml1	UTSW	12	108,500,915 (GRCm39)	missense	probably damaging	1.00
Z1177:Eml1	UTSW	12	108,389,398 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATGGGCTGTACGTCACTC -3'
(R):5'- AGCATTTAGGGAGCGTCTAC -3'

Sequencing Primer
(F):5'- GGCTGTACGTCACTCACCTGAC -3'
(R):5'- GTCTACAAAGACCCACCTCAG -3'

Posted On

2014-06-30