Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Eml1'

552937

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

045219-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108337265-108505835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108472810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 206 (S206L)

Ref Sequence

ENSEMBL: ENSMUSP00000105486 (fasta)

Gene Model

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

AlphaFold

Q05BC3

Predicted Effect

probably benign
Transcript: ENSMUST00000054955
AA Change: S175L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: S175L

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
AA Change: S192L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: S192L

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
AA Change: S206L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: S206L

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
AA Change: S206L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
AA Change: S206L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,270,144 (GRCm39)	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fetub	A	G	16: 22,748,007 (GRCm39)	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Marchf10	A	G	11: 105,299,502 (GRCm39)	S116P	probably benign	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nnt	A	G	13: 119,531,198 (GRCm39)	V183A	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Poln	T	A	5: 34,276,340 (GRCm39)	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	probably 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
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
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
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'- CCTGTACCAATCAACACGTTAG -3'
(R):5'- CTCCTACATGGCCACATCTG -3'

Sequencing Primer
(F):5'- TGTAAGGTGCACAAGGGAGAC -3'
(R):5'- CCTACATGGCCACATCTGAAATTTTG -3'

Posted On

2019-05-15