Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Eml3'

619296

Institutional Source

Beutler Lab

Gene Symbol

Eml3

Ensembl Gene

ENSMUSG00000071647

Gene Name

echinoderm microtubule associated protein like 3

Synonyms

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8906916-8918946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8916414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 670 (T670S)

Ref Sequence

ENSEMBL: ENSMUSP00000093960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096240] [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]

AlphaFold

Q8VC03

Predicted Effect

probably benign
Transcript: ENSMUST00000096240

SMART Domains

Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646

Domain	Start	End	E-Value	Type
BAH	4	144	7.34e-34	SMART
ELM2	147	201	5.58e-15	SMART
SANT	264	313	2.24e-7	SMART
ZnF_GATA	361	415	5.5e-15	SMART
low complexity region	475	490	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096241
AA Change: T670S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: T670S

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

possibly damaging
Transcript: ENSMUST00000224272
AA Change: T669S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000224642

Meta Mutation Damage Score

0.1378

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,350,871 (GRCm39)	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,151,319 (GRCm39)		probably null	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Oplah	C	T	15: 76,190,457 (GRCm39)	R102H	probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Pygl	A	G	12: 70,274,113 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Smox	A	G	2: 131,364,100 (GRCm39)	S468G	probably benign	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	probably damaging	Het

Other mutations in Eml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Eml3	APN	19	8,913,762 (GRCm39)	nonsense	probably null
IGL01398:Eml3	APN	19	8,911,598 (GRCm39)	splice site	probably benign
IGL01904:Eml3	APN	19	8,914,130 (GRCm39)	splice site	probably benign
IGL02557:Eml3	APN	19	8,908,745 (GRCm39)	unclassified	probably benign
IGL02795:Eml3	APN	19	8,911,142 (GRCm39)	missense	probably benign	0.43
IGL03160:Eml3	APN	19	8,912,319 (GRCm39)	missense	probably benign	0.04
IGL03172:Eml3	APN	19	8,916,543 (GRCm39)	unclassified	probably benign
IGL03376:Eml3	APN	19	8,911,154 (GRCm39)	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8,915,842 (GRCm39)	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8,915,842 (GRCm39)	missense	probably damaging	1.00
R0097:Eml3	UTSW	19	8,914,015 (GRCm39)	missense	probably benign	0.32
R0097:Eml3	UTSW	19	8,914,015 (GRCm39)	missense	probably benign	0.32
R0599:Eml3	UTSW	19	8,916,427 (GRCm39)	missense	probably benign	0.14
R0652:Eml3	UTSW	19	8,910,649 (GRCm39)	missense	probably damaging	1.00
R0827:Eml3	UTSW	19	8,915,830 (GRCm39)	missense	probably damaging	0.98
R0841:Eml3	UTSW	19	8,915,049 (GRCm39)	missense	probably benign
R0880:Eml3	UTSW	19	8,918,279 (GRCm39)	missense	possibly damaging	0.92
R0924:Eml3	UTSW	19	8,910,675 (GRCm39)	critical splice donor site	probably null
R1127:Eml3	UTSW	19	8,913,672 (GRCm39)	missense	probably damaging	0.99
R1156:Eml3	UTSW	19	8,911,494 (GRCm39)	missense	probably damaging	1.00
R1160:Eml3	UTSW	19	8,910,614 (GRCm39)	missense	probably benign	0.00
R1427:Eml3	UTSW	19	8,911,225 (GRCm39)	missense	probably damaging	1.00
R1497:Eml3	UTSW	19	8,913,733 (GRCm39)	missense	probably damaging	1.00
R1679:Eml3	UTSW	19	8,914,001 (GRCm39)	missense	probably damaging	0.98
R1931:Eml3	UTSW	19	8,914,507 (GRCm39)	missense	probably benign	0.43
R2119:Eml3	UTSW	19	8,911,718 (GRCm39)	critical splice donor site	probably null
R4296:Eml3	UTSW	19	8,908,773 (GRCm39)	missense	probably damaging	1.00
R5122:Eml3	UTSW	19	8,915,060 (GRCm39)	critical splice donor site	probably null
R5288:Eml3	UTSW	19	8,916,638 (GRCm39)	missense	probably damaging	1.00
R5467:Eml3	UTSW	19	8,914,946 (GRCm39)	nonsense	probably null
R5836:Eml3	UTSW	19	8,918,659 (GRCm39)	missense	possibly damaging	0.96
R5845:Eml3	UTSW	19	8,916,582 (GRCm39)	missense	probably damaging	1.00
R5879:Eml3	UTSW	19	8,912,379 (GRCm39)	missense	possibly damaging	0.77
R5881:Eml3	UTSW	19	8,910,807 (GRCm39)	missense	probably damaging	1.00
R6011:Eml3	UTSW	19	8,916,471 (GRCm39)	missense	probably damaging	1.00
R6247:Eml3	UTSW	19	8,908,313 (GRCm39)	missense	probably benign
R6777:Eml3	UTSW	19	8,914,086 (GRCm39)	missense	probably benign
R7132:Eml3	UTSW	19	8,918,392 (GRCm39)	missense	probably benign	0.25
R7169:Eml3	UTSW	19	8,910,828 (GRCm39)	missense	probably damaging	1.00
R7896:Eml3	UTSW	19	8,911,171 (GRCm39)	missense	possibly damaging	0.96
R8354:Eml3	UTSW	19	8,912,358 (GRCm39)	missense	probably damaging	1.00
R8361:Eml3	UTSW	19	8,914,801 (GRCm39)	missense	possibly damaging	0.94
R8454:Eml3	UTSW	19	8,912,358 (GRCm39)	missense	probably damaging	1.00
R8896:Eml3	UTSW	19	8,914,056 (GRCm39)	missense	probably damaging	1.00
X0025:Eml3	UTSW	19	8,914,803 (GRCm39)	missense	probably damaging	0.96
Z1177:Eml3	UTSW	19	8,914,925 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCCCCTCAGCACTTCTATG -3'
(R):5'- GCTGGACTTAGTGCCACAACTG -3'

Sequencing Primer
(F):5'- GCACTTCTATGCCCTTAGCC -3'
(R):5'- GGACTTAGTGCCACAACTGGAAAC -3'

Posted On

2020-01-23