Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Eml5'

709153

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98796578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1648 (R1648G)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]

AlphaFold

Q8BQM8

Predicted Effect

probably benign
Transcript: ENSMUST00000065716
AA Change: R1601G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R1601G

Domain	Start	End	E-Value	Type
Pfam:HELP	1	49	3.3e-21	PFAM
WD40	50	91	6.42e-1	SMART
WD40	94	136	1.08e-4	SMART
WD40	139	178	1.27e-1	SMART
WD40	184	224	2.75e1	SMART
WD40	225	263	2.65e-4	SMART
Blast:WD40	265	312	2e-22	BLAST
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.2e2	SMART
WD40	397	436	8.59e-1	SMART
WD40	444	479	6.6e1	SMART
WD40	505	546	2.74e2	SMART
WD40	552	592	4.8e-2	SMART
low complexity region	609	632	N/A	INTRINSIC
Pfam:HELP	656	715	1.4e-20	PFAM
WD40	716	757	1.18e-1	SMART
WD40	760	802	2.84e-4	SMART
WD40	805	844	1.91e1	SMART
WD40	853	891	2.64e2	SMART
WD40	892	929	3.45e-3	SMART
WD40	985	1026	4.55e-3	SMART
WD40	1029	1068	6.39e0	SMART
WD40	1071	1111	5.15e-2	SMART
WD40	1180	1221	1.9e2	SMART
WD40	1227	1267	1.38e0	SMART
low complexity region	1280	1297	N/A	INTRINSIC
Pfam:HELP	1335	1410	2.4e-16	PFAM
Blast:WD40	1412	1462	8e-28	BLAST
WD40	1465	1507	1.56e-1	SMART
WD40	1510	1549	2.06e0	SMART
WD40	1558	1597	8.22e1	SMART
WD40	1599	1644	4.26e1	SMART
WD40	1690	1730	2.19e-5	SMART
WD40	1774	1813	5.97e-1	SMART
WD40	1884	1925	2.39e0	SMART
WD40	1931	1971	2.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222097

Predicted Effect

probably benign
Transcript: ENSMUST00000223282
AA Change: R1648G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623 (GRCm38)		probably benign	Het
Abcc9	A	T	6: 142,694,525 (GRCm38)	L79H	probably damaging	Het
Alb	A	G	5: 90,475,284 (GRCm38)	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,495,952 (GRCm38)	L776*	probably null	Het
Ank3	A	G	10: 69,987,499 (GRCm38)	K666R		Het
Ankrd17	T	C	5: 90,244,127 (GRCm38)	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,268,649 (GRCm38)	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,627,902 (GRCm38)	F738L	probably benign	Het
Ap4m1	T	A	5: 138,177,183 (GRCm38)	C319*	probably null	Het
Arsj	C	T	3: 126,439,096 (GRCm38)	T497M	probably damaging	Het
Begain	G	T	12: 109,033,992 (GRCm38)	S284R	probably damaging	Het
Bicc1	A	T	10: 70,950,087 (GRCm38)	N408K	probably benign	Het
Cacybp	T	C	1: 160,203,638 (GRCm38)	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,516,338 (GRCm38)	D17G	probably benign	Het
Cd1d1	C	A	3: 86,998,632 (GRCm38)		probably null	Het
Chd3	C	T	11: 69,360,374 (GRCm38)	C554Y	probably damaging	Het
Chsy1	A	G	7: 66,171,751 (GRCm38)	D578G	probably damaging	Het
Col6a6	T	C	9: 105,786,101 (GRCm38)	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,686,539 (GRCm38)	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,381,349 (GRCm38)	D380G	probably benign	Het
Dnah6	A	T	6: 73,021,278 (GRCm38)	S4054T	probably benign	Het
Emb	G	T	13: 117,220,560 (GRCm38)		probably benign	Het
Fam117b	A	T	1: 59,981,581 (GRCm38)	M537L	probably benign	Het
Fcrls	C	T	3: 87,257,599 (GRCm38)	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,861,032 (GRCm38)	S147P	probably benign	Het
Fgfr3	G	A	5: 33,727,872 (GRCm38)	R110Q	probably benign	Het
Frmd6	T	A	12: 70,887,091 (GRCm38)		probably null	Het
Fry	A	G	5: 150,477,938 (GRCm38)	R356G		Het
Fsip2	A	G	2: 82,980,695 (GRCm38)	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 112,148,018 (GRCm38)	T181I	probably benign	Het
Hoxc10	A	G	15: 102,970,947 (GRCm38)	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 22,065,145 (GRCm38)	D463V	probably damaging	Het
Ints13	T	C	6: 146,565,631 (GRCm38)	D194G	probably null	Het
Kif5c	A	T	2: 49,732,780 (GRCm38)	E548V	probably damaging	Het
Lrp2	T	C	2: 69,527,635 (GRCm38)	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,568,311 (GRCm38)	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,061,677 (GRCm38)	M35V	probably damaging	Het
Mical1	T	A	10: 41,481,306 (GRCm38)	M369K	possibly damaging	Het
Mre11a	T	A	9: 14,825,218 (GRCm38)	F548L	probably benign	Het
Muc20	C	T	16: 32,794,101 (GRCm38)	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,434,458 (GRCm38)	D571G	probably damaging	Het
Nup88	T	C	11: 70,967,930 (GRCm38)	K131E	probably damaging	Het
Nwd2	A	G	5: 63,804,963 (GRCm38)	D630G	probably damaging	Het
Olfr187	C	T	16: 59,036,315 (GRCm38)	V141M	probably benign	Het
Olfr410	A	G	11: 74,334,367 (GRCm38)	L288P	probably damaging	Het
Olfr805	A	T	10: 129,723,012 (GRCm38)	C177*	probably null	Het
Pdzd8	A	T	19: 59,300,787 (GRCm38)	L727*	probably null	Het
Pi16	T	A	17: 29,327,878 (GRCm38)	N475K	probably benign	Het
Pikfyve	G	A	1: 65,268,742 (GRCm38)	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,337,156 (GRCm38)	S768T	probably benign	Het
Plxnc1	T	A	10: 94,864,737 (GRCm38)	R656*	probably null	Het
Poglut1	A	G	16: 38,529,488 (GRCm38)	W308R	probably damaging	Het
Prmt9	T	G	8: 77,559,034 (GRCm38)	V165G	probably benign	Het
Ptch2	A	G	4: 117,104,772 (GRCm38)	E102G	probably damaging	Het
Rpn2	G	T	2: 157,299,580 (GRCm38)	A303S	possibly damaging	Het
Rttn	A	C	18: 89,060,452 (GRCm38)	H1334P	probably damaging	Het
Sept3	A	T	15: 82,279,538 (GRCm38)	D32V	probably damaging	Het
Sftpa1	G	T	14: 41,132,460 (GRCm38)	M1I	probably null	Het
Slc15a2	G	A	16: 36,753,718 (GRCm38)	T591I	probably benign	Het
Slc18a2	C	T	19: 59,274,359 (GRCm38)	T252I	probably benign	Het
Smchd1	A	G	17: 71,387,076 (GRCm38)	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,187,735 (GRCm38)	G454S	probably damaging	Het
Swt1	A	G	1: 151,411,016 (GRCm38)	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,818,863 (GRCm38)	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,249,640 (GRCm38)	V141A	probably damaging	Het
Ticrr	A	G	7: 79,680,987 (GRCm38)	D711G	probably damaging	Het
Trim45	A	T	3: 100,925,003 (GRCm38)	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,269,224 (GRCm38)	R202Q	probably damaging	Het
Usp25	G	A	16: 77,107,955 (GRCm38)	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,624,234 (GRCm38)	M752K	probably damaging	Het
Wdr35	G	A	12: 9,021,826 (GRCm38)	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,087,755 (GRCm38)	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,264,291 (GRCm38)		probably null	Het
Zfp454	G	C	11: 50,873,710 (GRCm38)	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600 (GRCm38)		probably benign	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98,873,209 (GRCm38)	splice site	probably benign
IGL00473:Eml5	APN	12	98,805,492 (GRCm38)	splice site	probably benign
IGL01120:Eml5	APN	12	98,844,019 (GRCm38)	missense	probably benign
IGL01308:Eml5	APN	12	98,802,313 (GRCm38)	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98,798,932 (GRCm38)	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98,863,280 (GRCm38)	missense	probably benign
IGL02182:Eml5	APN	12	98,802,322 (GRCm38)	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98,794,424 (GRCm38)	splice site	probably benign
IGL02375:Eml5	APN	12	98,844,087 (GRCm38)	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98,790,674 (GRCm38)	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98,876,243 (GRCm38)	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98,817,845 (GRCm38)	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98,858,841 (GRCm38)	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98,861,245 (GRCm38)	nonsense	probably null
IGL03158:Eml5	APN	12	98,827,514 (GRCm38)	splice site	probably benign
IGL03286:Eml5	APN	12	98,860,503 (GRCm38)	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98,874,647 (GRCm38)	splice site	probably benign
BB010:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98,824,772 (GRCm38)	splice site	probably null
R0624:Eml5	UTSW	12	98,865,479 (GRCm38)	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98,861,183 (GRCm38)	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98,830,973 (GRCm38)	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98,792,046 (GRCm38)	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98,831,003 (GRCm38)	splice site	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1503:Eml5	UTSW	12	98,831,174 (GRCm38)	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98,794,276 (GRCm38)	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98,830,935 (GRCm38)	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98,852,704 (GRCm38)	splice site	probably null
R1791:Eml5	UTSW	12	98,887,056 (GRCm38)	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98,810,584 (GRCm38)	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98,859,961 (GRCm38)	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98,876,311 (GRCm38)	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98,791,386 (GRCm38)	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98,794,266 (GRCm38)	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98,802,446 (GRCm38)	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98,843,946 (GRCm38)	splice site	probably benign
R2164:Eml5	UTSW	12	98,887,097 (GRCm38)	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98,876,223 (GRCm38)	nonsense	probably null
R2200:Eml5	UTSW	12	98,825,417 (GRCm38)	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98,841,581 (GRCm38)	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98,844,105 (GRCm38)	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98,876,178 (GRCm38)	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98,880,808 (GRCm38)	splice site	probably null
R3118:Eml5	UTSW	12	98,865,494 (GRCm38)	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98,855,989 (GRCm38)	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98,816,024 (GRCm38)	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98,825,523 (GRCm38)	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R3976:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R4105:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4107:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4108:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4109:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4258:Eml5	UTSW	12	98,865,434 (GRCm38)	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98,815,955 (GRCm38)	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98,837,341 (GRCm38)	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98,798,852 (GRCm38)	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98,802,307 (GRCm38)	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98,830,965 (GRCm38)	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98,792,616 (GRCm38)	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98,874,512 (GRCm38)	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98,792,042 (GRCm38)	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98,790,688 (GRCm38)	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98,858,783 (GRCm38)	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98,794,158 (GRCm38)	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98,825,555 (GRCm38)	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98,876,188 (GRCm38)	missense	probably benign
R6113:Eml5	UTSW	12	98,824,674 (GRCm38)	nonsense	probably null
R6131:Eml5	UTSW	12	98,861,251 (GRCm38)	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98,794,456 (GRCm38)	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98,863,129 (GRCm38)	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98,870,884 (GRCm38)	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98,798,868 (GRCm38)
R6528:Eml5	UTSW	12	98,824,637 (GRCm38)	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98,791,405 (GRCm38)	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98,827,506 (GRCm38)	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98,865,400 (GRCm38)	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98,876,180 (GRCm38)	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98,802,474 (GRCm38)	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98,825,424 (GRCm38)	missense
R7644:Eml5	UTSW	12	98,855,944 (GRCm38)	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98,792,563 (GRCm38)	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98,794,135 (GRCm38)	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98,792,514 (GRCm38)	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98,858,886 (GRCm38)	nonsense	probably null
R8482:Eml5	UTSW	12	98,876,301 (GRCm38)	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98,815,959 (GRCm38)	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98,852,693 (GRCm38)	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98,810,570 (GRCm38)	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98,858,840 (GRCm38)	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98,844,117 (GRCm38)	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98,856,028 (GRCm38)	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98,798,801 (GRCm38)	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98,882,033 (GRCm38)	nonsense	probably null
R9392:Eml5	UTSW	12	98,900,940 (GRCm38)	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98,876,174 (GRCm38)	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98,861,295 (GRCm38)	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98,815,984 (GRCm38)	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98,841,582 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCACTATGTATCATTAAGTACTGC -3'
(R):5'- AGTGCATTGTGATGAATCATGG -3'

Sequencing Primer
(F):5'- GGCTCAAGGAACACCTTA -3'
(R):5'- TGCTTGTGTCAGAAGAAAA -3'

Posted On

2022-04-18