Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Eml1'

67495

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

038911-MU

Accession Numbers

Essential gene?

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

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108337265-108505835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108496585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 614 (T614A)

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: T583A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: T583A

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: T600A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: T600A

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: T614A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: T614A

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

noncoding transcript
Transcript: ENSMUST00000123035

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130999
AA Change: T614A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
AA Change: T614A

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: ENSMUST00000148186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155544

Meta Mutation Damage Score

0.1474

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,486,774 (GRCm39)	I168N	probably benign	Het
Adamts20	G	A	15: 94,245,571 (GRCm39)	A577V	probably benign	Het
Agtr1a	A	T	13: 30,565,279 (GRCm39)	S115C	probably damaging	Het
Ankrd11	T	C	8: 123,618,692 (GRCm39)	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,818,252 (GRCm39)	T353S	probably damaging	Het
App	A	G	16: 84,876,840 (GRCm39)	F184L	probably damaging	Het
Arhgef38	T	A	3: 132,843,232 (GRCm39)	Y446F	probably benign	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Atp1a4	G	A	1: 172,067,774 (GRCm39)		probably benign	Het
Bdp1	G	A	13: 100,195,459 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,717 (GRCm39)	S246T	possibly damaging	Het
Brd10	T	A	19: 29,695,381 (GRCm39)	I1438F	probably benign	Het
Bsn	T	A	9: 107,984,011 (GRCm39)	M3348L	unknown	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,704,322 (GRCm39)	I820V	probably benign	Het
Cdc40	A	G	10: 40,720,952 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,159,493 (GRCm39)	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,305,922 (GRCm39)	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391 (GRCm39)	A502V	probably benign	Het
Cfap54	T	C	10: 92,870,599 (GRCm39)	T29A	probably benign	Het
Cfap57	T	C	4: 118,470,117 (GRCm39)		probably null	Het
Chd5	A	G	4: 152,432,441 (GRCm39)	E43G	possibly damaging	Het
Clk1	G	A	1: 58,453,558 (GRCm39)	H343Y	probably benign	Het
Cntn4	A	C	6: 106,527,447 (GRCm39)	K443T	probably damaging	Het
Csn2	G	A	5: 87,842,811 (GRCm39)	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,493,457 (GRCm39)	H346L	probably benign	Het
Ctif	A	T	18: 75,698,083 (GRCm39)	N192K	probably damaging	Het
Ddr2	G	A	1: 169,823,135 (GRCm39)	A383V	probably benign	Het
Derl3	C	T	10: 75,731,076 (GRCm39)		probably benign	Het
Dgkh	T	C	14: 78,821,919 (GRCm39)	I865V	probably damaging	Het
Dip2b	C	T	15: 100,069,532 (GRCm39)	A619V	probably damaging	Het
Elapor1	T	A	3: 108,376,851 (GRCm39)	H509L	probably benign	Het
Eogt	G	C	6: 97,092,970 (GRCm39)	Y402*	probably null	Het
Erbb4	A	G	1: 68,298,449 (GRCm39)	V647A	probably damaging	Het
Esm1	G	T	13: 113,350,036 (GRCm39)		probably null	Het
Fbxo31	A	G	8: 122,282,103 (GRCm39)		probably benign	Het
Fbxw5	T	A	2: 25,394,630 (GRCm39)	D201E	possibly damaging	Het
Fgfr1	G	A	8: 26,045,760 (GRCm39)	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,504,757 (GRCm39)		probably benign	Het
Gnat1	G	A	9: 107,556,662 (GRCm39)	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,221,597 (GRCm39)	R67*	probably null	Het
Il22b	A	T	10: 118,130,142 (GRCm39)	D87E	probably benign	Het
Kcnq3	T	C	15: 65,867,457 (GRCm39)	T729A	probably benign	Het
Klrc2	A	T	6: 129,635,659 (GRCm39)	S156R	probably damaging	Het
Krt76	A	T	15: 101,795,784 (GRCm39)	L462Q	probably damaging	Het
Lama3	C	A	18: 12,589,907 (GRCm39)		probably benign	Het
Lin28a	A	T	4: 133,735,319 (GRCm39)	S56T	probably damaging	Het
Macf1	A	G	4: 123,276,323 (GRCm39)		probably benign	Het
Macrod2	C	T	2: 142,059,594 (GRCm39)		probably benign	Het
Mansc1	C	T	6: 134,594,424 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,566,274 (GRCm39)	S2149*	probably null	Het
Mgst1	A	T	6: 138,124,667 (GRCm39)	T34S	probably benign	Het
Mlf2	C	T	6: 124,911,354 (GRCm39)	T123M	probably damaging	Het
Mospd2	C	T	X: 163,731,253 (GRCm39)		probably benign	Het
Mrpl15	A	T	1: 4,847,834 (GRCm39)	V155E	probably damaging	Het
Mstn	A	T	1: 53,100,953 (GRCm39)	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,470,794 (GRCm39)	V21M	probably damaging	Het
Myom2	T	C	8: 15,149,326 (GRCm39)	I599T	probably benign	Het
Ndc80	A	T	17: 71,803,241 (GRCm39)	N633K	probably benign	Het
Nhs	C	A	X: 160,620,296 (GRCm39)	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,352,382 (GRCm39)	T106A	probably benign	Het
Nup133	C	T	8: 124,675,747 (GRCm39)	V57M	probably benign	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Oprm1	T	C	10: 6,782,652 (GRCm39)		probably benign	Het
Or5j1	T	C	2: 86,879,492 (GRCm39)	I29M	probably benign	Het
Or6c219	T	A	10: 129,780,980 (GRCm39)	H317L	probably benign	Het
Or8j3	A	G	2: 86,029,069 (GRCm39)	V9A	probably benign	Het
Ostf1	C	T	19: 18,581,571 (GRCm39)	V14I	unknown	Het
Pcdhb14	C	A	18: 37,581,921 (GRCm39)	D342E	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdpr	T	C	8: 111,852,387 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,705,135 (GRCm39)	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444 (GRCm39)	M288T	probably benign	Het
Psd2	A	T	18: 36,111,627 (GRCm39)	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,712,448 (GRCm39)	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,626,476 (GRCm39)		probably benign	Het
Rasgrf1	T	A	9: 89,833,062 (GRCm39)		probably benign	Het
Rictor	A	G	15: 6,803,467 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,775,780 (GRCm39)	I984F	probably benign	Het
Slc1a6	C	T	10: 78,631,842 (GRCm39)	P223S	probably benign	Het
Taar8b	A	C	10: 23,967,924 (GRCm39)	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,267,160 (GRCm39)	V327A	probably benign	Het
Tex21	T	C	12: 76,250,940 (GRCm39)	T499A	probably benign	Het
Tg	A	T	15: 66,550,638 (GRCm39)	D256V	probably damaging	Het
Tmf1	A	G	6: 97,153,453 (GRCm39)	S207P	probably benign	Het
Tpr	A	G	1: 150,269,158 (GRCm39)		probably benign	Het
Ufd1	A	G	16: 18,633,637 (GRCm39)	T21A	probably damaging	Het
Unc13a	T	C	8: 72,108,929 (GRCm39)	D115G	possibly damaging	Het
Usb1	T	A	8: 96,070,669 (GRCm39)	F198L	probably damaging	Het
Utrn	A	T	10: 12,573,902 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,233,276 (GRCm39)	N954S	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,968,429 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,658,369 (GRCm39)		probably benign	Het
Zfp445	A	T	9: 122,690,823 (GRCm39)	V124E	probably damaging	Het
Zfp616	A	T	11: 73,975,648 (GRCm39)	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,657,985 (GRCm39)	S642I	probably damaging	Het
Zswim5	C	T	4: 116,842,943 (GRCm39)	T896I	possibly damaging	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
R1566:Eml1	UTSW	12	108,438,151 (GRCm39)	missense	probably damaging	0.99
R1883:Eml1	UTSW	12	108,429,911 (GRCm39)	missense	probably damaging	0.97
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'- CGGCATTTCCGATACTTAGCACACC -3'
(R):5'- TGTCTAGTGAGCCCTACACACCAC -3'

Sequencing Primer
(F):5'- TAACTTCTGAAGAGCTTCGAGCG -3'
(R):5'- TGGTGGAGCTTTGTCAACCT -3'

Posted On

2013-09-03