Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02584:Eml6'

299488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

IGL02584

Quality Score

Status

Chromosome

Chromosomal Location

29743048-30026033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29749387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1789 (S1789P)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000137689]

AlphaFold

Q5SQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058902
AA Change: S1789P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: S1789P

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
WD40	49	91	1.79e-1	SMART
WD40	94	136	1.42e-4	SMART
WD40	139	178	5.31e-4	SMART
WD40	184	224	8.84e1	SMART
WD40	225	263	3.75e-4	SMART
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.22e0	SMART
WD40	397	436	1.72e0	SMART
WD40	505	546	1.7e2	SMART
WD40	552	592	4.55e-3	SMART
low complexity region	613	625	N/A	INTRINSIC
Pfam:HELP	653	715	1.9e-22	PFAM
WD40	716	757	9.24e-1	SMART
WD40	760	802	6.53e-4	SMART
WD40	805	844	2.98e-1	SMART
WD40	856	891	8.52e1	SMART
WD40	892	929	2.09e-2	SMART
WD40	986	1026	1.18e-1	SMART
WD40	1032	1068	3.44e0	SMART
WD40	1071	1111	2.58e-1	SMART
WD40	1180	1221	9.24e-1	SMART
WD40	1227	1267	3.85e-1	SMART
low complexity region	1280	1291	N/A	INTRINSIC
Pfam:HELP	1329	1402	5e-15	PFAM
WD40	1404	1447	2.66e0	SMART
WD40	1450	1492	1.85e0	SMART
WD40	1495	1534	2.97e0	SMART
WD40	1543	1582	7.1e1	SMART
WD40	1584	1629	9.51e1	SMART
WD40	1675	1715	3.05e-4	SMART
WD40	1718	1758	8.84e1	SMART
WD40	1759	1798	7.16e-1	SMART
WD40	1869	1910	1.53e1	SMART
WD40	1916	1956	4.62e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137017

Predicted Effect

probably benign
Transcript: ENSMUST00000137689

SMART Domains

Protein: ENSMUSP00000116197
Gene: ENSMUSG00000044072

Domain	Start	End	E-Value	Type
SCOP:d2bbkh_	14	72	9e-8	SMART
Blast:WD40	22	64	1e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142651

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 89,174,856 (GRCm38)	Y22F	unknown	Het
Adgrb3	A	G	1: 25,504,984 (GRCm38)	L312P	probably damaging	Het
Anpep	T	C	7: 79,825,393 (GRCm38)		probably benign	Het
Arhgef6	T	G	X: 57,246,378 (GRCm38)		probably benign	Het
Catsperg1	T	C	7: 29,184,721 (GRCm38)	D989G	probably damaging	Het
Ccnj	T	A	19: 40,844,741 (GRCm38)	V121E	probably benign	Het
Cdyl	T	C	13: 35,683,786 (GRCm38)	L15P	probably benign	Het
Cnrip1	T	A	11: 17,078,536 (GRCm38)	M156K	probably damaging	Het
Cryga	T	A	1: 65,103,016 (GRCm38)	S73C	probably benign	Het
Dennd4a	A	G	9: 64,851,298 (GRCm38)	T240A	probably damaging	Het
Esr2	A	T	12: 76,145,262 (GRCm38)	W331R	probably damaging	Het
Fbxo18	A	T	2: 11,759,958 (GRCm38)	L455H	probably benign	Het
Gm21698	T	A	5: 25,987,393 (GRCm38)	E65V	probably damaging	Het
Grm8	G	T	6: 27,762,439 (GRCm38)	F262L	probably benign	Het
Haus3	A	T	5: 34,166,258 (GRCm38)	L336*	probably null	Het
Hfm1	A	C	5: 106,878,662 (GRCm38)		probably null	Het
Hgfac	T	C	5: 35,043,961 (GRCm38)		probably benign	Het
Ighv1-22	T	C	12: 114,746,322 (GRCm38)	E101G	probably benign	Het
Impg2	A	G	16: 56,265,011 (GRCm38)	E1027G	probably damaging	Het
Lypd5	A	T	7: 24,353,568 (GRCm38)	T217S	possibly damaging	Het
Myrf	A	G	19: 10,212,223 (GRCm38)		probably benign	Het
Mzf1	A	G	7: 13,052,817 (GRCm38)	W109R	probably damaging	Het
Ndufb4	A	T	16: 37,649,170 (GRCm38)		probably benign	Het
Ntn1	A	G	11: 68,277,530 (GRCm38)	V367A	probably damaging	Het
Olfr1029	C	T	2: 85,975,875 (GRCm38)	L211F	probably damaging	Het
Oprk1	A	G	1: 5,598,604 (GRCm38)	K91R	probably damaging	Het
Pdlim1	A	G	19: 40,243,400 (GRCm38)		probably null	Het
Ppp1r11	G	A	17: 36,949,889 (GRCm38)	R61C	probably damaging	Het
Racgap1	T	C	15: 99,623,634 (GRCm38)	D547G	probably benign	Het
Sema4b	A	G	7: 80,224,988 (GRCm38)	T709A	probably benign	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Supt5	T	C	7: 28,326,167 (GRCm38)	H218R	probably benign	Het
Tmem132c	T	A	5: 127,504,999 (GRCm38)	I426N	probably damaging	Het
Tpcn1	T	C	5: 120,539,032 (GRCm38)	N696S	probably damaging	Het
Ttn	T	C	2: 76,736,162 (GRCm38)	N26383S	possibly damaging	Het
Vax2	A	G	6: 83,711,513 (GRCm38)	T73A	probably benign	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het

Other mutations in Eml6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Eml6	APN	11	29,850,816 (GRCm38)	critical splice donor site	probably null
IGL01407:Eml6	APN	11	29,755,021 (GRCm38)	nonsense	probably null
IGL01434:Eml6	APN	11	29,819,090 (GRCm38)	missense	probably damaging	1.00
IGL01578:Eml6	APN	11	29,850,870 (GRCm38)	missense	probably benign	0.02
IGL01780:Eml6	APN	11	29,805,175 (GRCm38)	missense	probably benign	0.17
IGL01821:Eml6	APN	11	29,821,699 (GRCm38)	missense	probably benign	0.00
IGL01837:Eml6	APN	11	29,777,055 (GRCm38)	missense	probably benign	0.00
IGL01904:Eml6	APN	11	29,838,613 (GRCm38)	nonsense	probably null
IGL01972:Eml6	APN	11	29,838,451 (GRCm38)	missense	possibly damaging	0.67
IGL02134:Eml6	APN	11	29,759,066 (GRCm38)	missense	probably benign	0.13
IGL02192:Eml6	APN	11	29,805,743 (GRCm38)	missense	probably benign	0.00
IGL02377:Eml6	APN	11	29,777,282 (GRCm38)	missense	probably damaging	0.98
IGL02587:Eml6	APN	11	29,784,236 (GRCm38)	missense	possibly damaging	0.92
IGL02810:Eml6	APN	11	29,849,016 (GRCm38)	missense	possibly damaging	0.94
IGL02873:Eml6	APN	11	29,880,700 (GRCm38)	missense	probably benign	0.10
IGL02880:Eml6	APN	11	29,749,959 (GRCm38)	missense	probably benign	0.03
IGL03289:Eml6	APN	11	29,795,328 (GRCm38)	missense	possibly damaging	0.49
IGL03301:Eml6	APN	11	29,764,083 (GRCm38)	missense	probably benign	0.18
IGL03386:Eml6	APN	11	29,749,934 (GRCm38)	missense	probably benign
IGL03407:Eml6	APN	11	29,906,330 (GRCm38)	missense	probably damaging	1.00
PIT4453001:Eml6	UTSW	11	29,802,489 (GRCm38)	missense	probably damaging	1.00
R0125:Eml6	UTSW	11	29,882,088 (GRCm38)	missense	probably benign	0.19
R0240:Eml6	UTSW	11	29,792,367 (GRCm38)	missense	possibly damaging	0.84
R0240:Eml6	UTSW	11	29,792,367 (GRCm38)	missense	possibly damaging	0.84
R0271:Eml6	UTSW	11	29,848,949 (GRCm38)	missense	possibly damaging	0.48
R0304:Eml6	UTSW	11	29,777,441 (GRCm38)	missense	probably benign	0.00
R0415:Eml6	UTSW	11	29,749,392 (GRCm38)	missense	possibly damaging	0.84
R0449:Eml6	UTSW	11	29,893,213 (GRCm38)	missense	probably benign	0.01
R0538:Eml6	UTSW	11	29,760,010 (GRCm38)	splice site	probably benign
R0671:Eml6	UTSW	11	29,805,065 (GRCm38)	missense	probably benign	0.00
R0766:Eml6	UTSW	11	29,831,219 (GRCm38)	splice site	probably benign
R0800:Eml6	UTSW	11	29,749,877 (GRCm38)	missense	probably benign	0.08
R0841:Eml6	UTSW	11	29,777,430 (GRCm38)	missense	probably benign	0.41
R0879:Eml6	UTSW	11	29,850,816 (GRCm38)	critical splice donor site	probably null
R1061:Eml6	UTSW	11	29,777,267 (GRCm38)	missense	probably damaging	1.00
R1145:Eml6	UTSW	11	29,777,430 (GRCm38)	missense	probably benign	0.41
R1145:Eml6	UTSW	11	29,777,430 (GRCm38)	missense	probably benign	0.41
R1172:Eml6	UTSW	11	29,749,824 (GRCm38)	missense	possibly damaging	0.54
R1173:Eml6	UTSW	11	29,749,824 (GRCm38)	missense	possibly damaging	0.54
R1174:Eml6	UTSW	11	29,749,824 (GRCm38)	missense	possibly damaging	0.54
R1199:Eml6	UTSW	11	29,755,044 (GRCm38)	missense	possibly damaging	0.93
R1311:Eml6	UTSW	11	29,831,088 (GRCm38)	splice site	probably benign
R1312:Eml6	UTSW	11	29,831,219 (GRCm38)	splice site	probably benign
R1355:Eml6	UTSW	11	29,833,085 (GRCm38)	missense	probably benign	0.03
R1370:Eml6	UTSW	11	29,833,085 (GRCm38)	missense	probably benign	0.03
R1457:Eml6	UTSW	11	30,024,459 (GRCm38)	missense	probably damaging	1.00
R1486:Eml6	UTSW	11	29,805,114 (GRCm38)	missense	possibly damaging	0.83
R1511:Eml6	UTSW	11	29,818,374 (GRCm38)	missense	probably damaging	1.00
R1532:Eml6	UTSW	11	29,792,256 (GRCm38)	splice site	probably null
R1642:Eml6	UTSW	11	29,777,001 (GRCm38)	critical splice donor site	probably null
R1682:Eml6	UTSW	11	29,759,065 (GRCm38)	missense	probably benign	0.13
R1687:Eml6	UTSW	11	29,833,187 (GRCm38)	missense	probably damaging	1.00
R1699:Eml6	UTSW	11	29,746,282 (GRCm38)	nonsense	probably null
R1796:Eml6	UTSW	11	29,881,975 (GRCm38)	missense	probably benign	0.19
R1797:Eml6	UTSW	11	29,882,041 (GRCm38)	missense	probably benign	0.09
R1837:Eml6	UTSW	11	29,749,802 (GRCm38)	splice site	probably null
R1874:Eml6	UTSW	11	29,831,136 (GRCm38)	missense	probably damaging	0.99
R1967:Eml6	UTSW	11	30,024,545 (GRCm38)	missense	probably damaging	1.00
R1969:Eml6	UTSW	11	29,833,075 (GRCm38)	missense	probably benign
R2007:Eml6	UTSW	11	29,848,814 (GRCm38)	critical splice donor site	probably null
R2012:Eml6	UTSW	11	29,831,128 (GRCm38)	missense	possibly damaging	0.85
R2198:Eml6	UTSW	11	29,850,935 (GRCm38)	missense	probably benign	0.01
R2217:Eml6	UTSW	11	29,818,907 (GRCm38)	missense	probably damaging	1.00
R2218:Eml6	UTSW	11	29,818,907 (GRCm38)	missense	probably damaging	1.00
R2403:Eml6	UTSW	11	29,802,434 (GRCm38)	missense	probably benign	0.05
R2520:Eml6	UTSW	11	29,791,993 (GRCm38)	missense	probably damaging	1.00
R2937:Eml6	UTSW	11	29,833,049 (GRCm38)	splice site	probably benign
R2938:Eml6	UTSW	11	29,833,049 (GRCm38)	splice site	probably benign
R3085:Eml6	UTSW	11	29,809,332 (GRCm38)	missense	probably damaging	0.96
R3236:Eml6	UTSW	11	29,831,097 (GRCm38)	critical splice donor site	probably null
R3738:Eml6	UTSW	11	29,803,137 (GRCm38)	missense	probably benign	0.20
R3739:Eml6	UTSW	11	29,803,137 (GRCm38)	missense	probably benign	0.20
R3752:Eml6	UTSW	11	29,809,360 (GRCm38)	missense	probably benign	0.06
R3854:Eml6	UTSW	11	29,749,905 (GRCm38)	missense	possibly damaging	0.76
R3941:Eml6	UTSW	11	29,803,167 (GRCm38)	missense	probably damaging	0.98
R4034:Eml6	UTSW	11	29,803,137 (GRCm38)	missense	probably benign	0.20
R4049:Eml6	UTSW	11	29,838,577 (GRCm38)	missense	probably damaging	1.00
R4108:Eml6	UTSW	11	29,805,136 (GRCm38)	missense	probably damaging	0.98
R4657:Eml6	UTSW	11	29,805,108 (GRCm38)	missense	possibly damaging	0.77
R4662:Eml6	UTSW	11	29,777,390 (GRCm38)	missense	probably damaging	1.00
R4665:Eml6	UTSW	11	29,819,007 (GRCm38)	nonsense	probably null
R4721:Eml6	UTSW	11	29,838,525 (GRCm38)	missense	possibly damaging	0.95
R4729:Eml6	UTSW	11	29,833,204 (GRCm38)	missense	probably damaging	1.00
R4766:Eml6	UTSW	11	29,805,757 (GRCm38)	missense	probably benign	0.22
R4810:Eml6	UTSW	11	29,755,011 (GRCm38)	missense	possibly damaging	0.92
R4831:Eml6	UTSW	11	29,777,052 (GRCm38)	nonsense	probably null
R5035:Eml6	UTSW	11	29,854,187 (GRCm38)	missense	probably benign	0.00
R5064:Eml6	UTSW	11	29,749,300 (GRCm38)	missense	probably benign	0.12
R5103:Eml6	UTSW	11	29,850,905 (GRCm38)	missense	possibly damaging	0.65
R5121:Eml6	UTSW	11	29,744,606 (GRCm38)	missense	probably benign	0.03
R5161:Eml6	UTSW	11	30,024,467 (GRCm38)	missense	probably damaging	0.99
R5211:Eml6	UTSW	11	29,854,145 (GRCm38)	missense	probably benign	0.02
R5268:Eml6	UTSW	11	29,803,108 (GRCm38)	missense	probably benign	0.15
R5390:Eml6	UTSW	11	29,760,096 (GRCm38)	missense	probably damaging	1.00
R5529:Eml6	UTSW	11	29,764,126 (GRCm38)	missense	probably benign	0.04
R6239:Eml6	UTSW	11	29,749,275 (GRCm38)	missense	probably damaging	1.00
R6326:Eml6	UTSW	11	29,819,066 (GRCm38)	missense	probably damaging	1.00
R6395:Eml6	UTSW	11	29,809,321 (GRCm38)	missense	probably benign	0.00
R6476:Eml6	UTSW	11	29,791,971 (GRCm38)	critical splice donor site	probably null
R6483:Eml6	UTSW	11	29,749,875 (GRCm38)	missense	probably benign	0.00
R6701:Eml6	UTSW	11	29,785,748 (GRCm38)	missense	probably damaging	0.98
R6753:Eml6	UTSW	11	29,754,987 (GRCm38)	missense	probably damaging	1.00
R6809:Eml6	UTSW	11	29,803,161 (GRCm38)	missense	probably benign	0.23
R6847:Eml6	UTSW	11	29,818,447 (GRCm38)	missense	probably benign	0.00
R6855:Eml6	UTSW	11	29,751,381 (GRCm38)	splice site	probably null
R7168:Eml6	UTSW	11	29,838,529 (GRCm38)	missense	probably benign	0.01
R7175:Eml6	UTSW	11	29,784,231 (GRCm38)	missense	probably benign	0.00
R7305:Eml6	UTSW	11	29,777,258 (GRCm38)	missense	probably benign	0.01
R7615:Eml6	UTSW	11	29,802,501 (GRCm38)	missense	possibly damaging	0.49
R7692:Eml6	UTSW	11	29,753,085 (GRCm38)	missense	probably damaging	0.98
R7980:Eml6	UTSW	11	29,833,205 (GRCm38)	missense	probably damaging	1.00
R8026:Eml6	UTSW	11	29,749,973 (GRCm38)	missense	possibly damaging	0.63
R8046:Eml6	UTSW	11	29,758,981 (GRCm38)	missense	probably damaging	0.99
R8049:Eml6	UTSW	11	29,893,201 (GRCm38)	missense	possibly damaging	0.95
R8114:Eml6	UTSW	11	29,754,910 (GRCm38)	missense	probably damaging	1.00
R8425:Eml6	UTSW	11	29,755,008 (GRCm38)	missense	probably benign	0.00
R8799:Eml6	UTSW	11	29,758,981 (GRCm38)	missense	probably benign	0.11
R8945:Eml6	UTSW	11	29,753,110 (GRCm38)	missense	probably damaging	0.98
R8977:Eml6	UTSW	11	29,784,182 (GRCm38)	missense	possibly damaging	0.59
R8986:Eml6	UTSW	11	29,805,181 (GRCm38)	missense	possibly damaging	0.92
R9088:Eml6	UTSW	11	29,818,424 (GRCm38)	missense	probably damaging	0.96
R9150:Eml6	UTSW	11	29,805,791 (GRCm38)	missense	probably benign	0.15
R9209:Eml6	UTSW	11	29,831,175 (GRCm38)	missense	probably damaging	1.00
R9288:Eml6	UTSW	11	29,838,641 (GRCm38)	critical splice acceptor site	probably null
R9467:Eml6	UTSW	11	29,819,076 (GRCm38)	missense	probably damaging	0.99
R9481:Eml6	UTSW	11	29,838,641 (GRCm38)	critical splice acceptor site	probably null
R9534:Eml6	UTSW	11	29,784,155 (GRCm38)	missense	possibly damaging	0.45
RF037:Eml6	UTSW	11	29,752,549 (GRCm38)	critical splice acceptor site	probably benign
RF039:Eml6	UTSW	11	29,752,551 (GRCm38)	critical splice acceptor site	probably benign

Posted On

2015-04-16