Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Eml3'

654965

Institutional Source

Beutler Lab

Gene Symbol

Eml3

Ensembl Gene

ENSMUSG00000071647

Gene Name

echinoderm microtubule associated protein like 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8929552-8941582 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8934994 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 386 (H386R)

Ref Sequence

ENSEMBL: ENSMUSP00000093960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]

Predicted Effect

probably damaging
Transcript: ENSMUST00000096241
AA Change: H386R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: H386R

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:HELP	215	286	5.3e-30	PFAM
WD40	295	344	6.34e-2	SMART
Blast:WD40	347	392	5e-22	BLAST
WD40	395	434	1.56e-1	SMART
WD40	450	487	2.64e2	SMART
WD40	504	543	3.33e-1	SMART
WD40	587	626	2.69e-5	SMART
WD40	670	709	1.7e-2	SMART
WD40	716	755	1.52e-4	SMART
WD40	829	869	1.29e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224272
AA Change: H385R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224642

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	Het

Other mutations in Eml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Eml3	APN	19	8936398	nonsense	probably null
IGL01398:Eml3	APN	19	8934234	splice site	probably benign
IGL01904:Eml3	APN	19	8936766	splice site	probably benign
IGL02557:Eml3	APN	19	8931381	unclassified	probably benign
IGL02795:Eml3	APN	19	8933778	missense	probably benign	0.43
IGL03160:Eml3	APN	19	8934955	missense	probably benign	0.04
IGL03172:Eml3	APN	19	8939179	unclassified	probably benign
IGL03376:Eml3	APN	19	8933790	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8938478	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8938478	missense	probably damaging	1.00
R0097:Eml3	UTSW	19	8936651	missense	probably benign	0.32
R0097:Eml3	UTSW	19	8936651	missense	probably benign	0.32
R0599:Eml3	UTSW	19	8939063	missense	probably benign	0.14
R0652:Eml3	UTSW	19	8933285	missense	probably damaging	1.00
R0827:Eml3	UTSW	19	8938466	missense	probably damaging	0.98
R0841:Eml3	UTSW	19	8937685	missense	probably benign
R0880:Eml3	UTSW	19	8940915	missense	possibly damaging	0.92
R0924:Eml3	UTSW	19	8933311	critical splice donor site	probably null
R1127:Eml3	UTSW	19	8936308	missense	probably damaging	0.99
R1156:Eml3	UTSW	19	8934130	missense	probably damaging	1.00
R1160:Eml3	UTSW	19	8933250	missense	probably benign	0.00
R1427:Eml3	UTSW	19	8933861	missense	probably damaging	1.00
R1497:Eml3	UTSW	19	8936369	missense	probably damaging	1.00
R1679:Eml3	UTSW	19	8936637	missense	probably damaging	0.98
R1931:Eml3	UTSW	19	8937143	missense	probably benign	0.43
R2119:Eml3	UTSW	19	8934354	critical splice donor site	probably null
R4296:Eml3	UTSW	19	8931409	missense	probably damaging	1.00
R5122:Eml3	UTSW	19	8937696	critical splice donor site	probably null
R5288:Eml3	UTSW	19	8939274	missense	probably damaging	1.00
R5467:Eml3	UTSW	19	8937582	nonsense	probably null
R5836:Eml3	UTSW	19	8941295	missense	possibly damaging	0.96
R5845:Eml3	UTSW	19	8939218	missense	probably damaging	1.00
R5879:Eml3	UTSW	19	8935015	missense	possibly damaging	0.77
R5881:Eml3	UTSW	19	8933443	missense	probably damaging	1.00
R6011:Eml3	UTSW	19	8939107	missense	probably damaging	1.00
R6247:Eml3	UTSW	19	8930949	missense	probably benign
R6777:Eml3	UTSW	19	8936722	missense	probably benign
R7132:Eml3	UTSW	19	8941028	missense	probably benign	0.25
R7169:Eml3	UTSW	19	8933464	missense	probably damaging	1.00
R7896:Eml3	UTSW	19	8933807	missense	possibly damaging	0.96
R8054:Eml3	UTSW	19	8939050	missense	possibly damaging	0.77
R8354:Eml3	UTSW	19	8934994	missense	probably damaging	1.00
R8361:Eml3	UTSW	19	8937437	missense	possibly damaging	0.94
X0025:Eml3	UTSW	19	8937439	missense	probably damaging	0.96
Z1177:Eml3	UTSW	19	8937561	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTAGTGTTCTGGGCTCAC -3'
(R):5'- TAGTCCCCGTTAGAACTCCTG -3'

Sequencing Primer
(F):5'- CACAGCCAGTTCTCCTGAG -3'
(R):5'- CTGTAGTTCCCAATGCACAGATGG -3'

Posted On

2020-10-20