Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Eml6'

683514

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

MMRRC Submission

068715-MU

Accession Numbers

Essential gene?

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

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29743048-30026033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29784182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1186 (I1186T)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058902
AA Change: I1186T

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: I1186T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,328,408 (GRCm38)	I984N	probably damaging	Het
4930438A08Rik	A	G	11: 58,293,884 (GRCm38)	E476G	unknown	Het
Aars	G	A	8: 111,040,217 (GRCm38)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,313,667 (GRCm38)	V795L	probably benign	Het
Adam30	A	G	3: 98,162,062 (GRCm38)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,490,376 (GRCm38)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,954,587 (GRCm38)	I17V	probably null	Het
Anapc1	C	A	2: 128,641,402 (GRCm38)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,944,926 (GRCm38)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,795,745 (GRCm38)	K267*	probably null	Het
Apob	T	C	12: 8,015,990 (GRCm38)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,773,364 (GRCm38)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,863,370 (GRCm38)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,500,490 (GRCm38)	L42R	probably benign	Het
Ccdc173	T	C	2: 69,787,299 (GRCm38)	H46R	possibly damaging	Het
Ccer2	G	A	7: 28,756,688 (GRCm38)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,844,939 (GRCm38)	F187S	probably damaging	Het
Cd109	G	A	9: 78,707,528 (GRCm38)	V1286I	probably benign	Het
Cfap46	G	T	7: 139,679,933 (GRCm38)	T148N	probably benign	Het
Chmp7	A	G	14: 69,721,235 (GRCm38)	V210A	probably benign	Het
Cuzd1	A	G	7: 131,322,025 (GRCm38)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,852,312 (GRCm38)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,374,403 (GRCm38)	L240P	probably benign	Het
Dst	A	T	1: 34,247,783 (GRCm38)	R3398S	probably damaging	Het
Extl1	T	C	4: 134,359,124 (GRCm38)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,453,850 (GRCm38)	I339V	probably benign	Het
Ggcx	T	C	6: 72,429,282 (GRCm38)		probably null	Het
Gm9195	A	G	14: 72,453,898 (GRCm38)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,726,632 (GRCm38)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,755,640 (GRCm38)	I546T	probably damaging	Het
Map3k5	T	A	10: 20,079,254 (GRCm38)	F624L	possibly damaging	Het
Map7	T	A	10: 20,269,590 (GRCm38)		probably null	Het
Mdga2	A	T	12: 66,797,635 (GRCm38)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,128,965 (GRCm38)	C143R	probably benign	Het
Mut	G	T	17: 40,938,590 (GRCm38)	R152L	probably benign	Het
Ncam1	G	T	9: 49,507,525 (GRCm38)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,528,828 (GRCm38)	N257K	probably benign	Het
Olfr1085	C	T	2: 86,658,128 (GRCm38)	C110Y	probably benign	Het
Olfr1535	T	A	13: 21,555,846 (GRCm38)	M59L	possibly damaging	Het
Olfr378	A	G	11: 73,425,825 (GRCm38)	S53P	probably benign	Het
Olfr406	A	T	11: 74,269,478 (GRCm38)	I30F	probably benign	Het
Olfr640	A	T	7: 104,021,555 (GRCm38)	Y254*	probably null	Het
Olfr664	A	T	7: 104,734,041 (GRCm38)	F108I	probably damaging	Het
Pamr1	T	A	2: 102,611,618 (GRCm38)	V184D	probably damaging	Het
Paqr9	A	T	9: 95,560,835 (GRCm38)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,619,902 (GRCm38)		probably null	Het
Pkm	T	A	9: 59,671,640 (GRCm38)	I301N	probably damaging	Het
Pramel1	T	A	4: 143,397,391 (GRCm38)	I212N	probably benign	Het
Prdm6	A	T	18: 53,568,301 (GRCm38)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,496,044 (GRCm38)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,657,888 (GRCm38)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,980,159 (GRCm38)	Y61F	probably damaging	Het
Rgs11	T	C	17: 26,208,259 (GRCm38)	V388A	probably damaging	Het
Rictor	A	G	15: 6,783,085 (GRCm38)	I901V	probably benign	Het
Riox2	A	G	16: 59,491,832 (GRCm38)	D444G	probably benign	Het
Scn2a	T	A	2: 65,763,670 (GRCm38)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,812,747 (GRCm38)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382 (GRCm38)		probably benign	Het
Slc34a1	T	C	13: 55,409,002 (GRCm38)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,682,150 (GRCm38)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,683,254 (GRCm38)	M596L	probably benign	Het
Smarce1	A	G	11: 99,219,685 (GRCm38)	I100T	possibly damaging	Het
Stk32c	A	T	7: 139,125,245 (GRCm38)	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,323,473 (GRCm38)		probably null	Het
Tenm4	A	T	7: 96,811,970 (GRCm38)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,780,595 (GRCm38)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Trim55	C	A	3: 19,659,177 (GRCm38)	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,554,269 (GRCm38)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,386,942 (GRCm38)	T276I	possibly 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
IGL02584:Eml6	APN	11	29,749,387 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCATCAGGGAAGTTTCTATACAAC -3'
(R):5'- GCTAAGAATTAGAGCATCTCACCAC -3'

Sequencing Primer
(F):5'- CCATTCGGGTACAACAGATAATTAGG -3'
(R):5'- TTAGAGCATCTCACCACCCAGC -3'

Posted On

2021-10-11