Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Megf11'

216690

Institutional Source

Beutler Lab

Gene Symbol

Megf11

Ensembl Gene

ENSMUSG00000036466

Gene Name

multiple EGF-like-domains 11

Synonyms

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1946 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

64385626-64709205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64679276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 461 (D461V)

Ref Sequence

ENSEMBL: ENSMUSP00000114035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068967] [ENSMUST00000093829] [ENSMUST00000118485] [ENSMUST00000164113]

AlphaFold

Q80T91

Predicted Effect

probably damaging
Transcript: ENSMUST00000068967
AA Change: D461V

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

SMART Domains

Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: D461V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	74	84	N/A	INTRINSIC
EGF	101	129	1.85e0	SMART
EGF_Lam	145	184	9.55e-3	SMART
EGF_Lam	188	227	2e-5	SMART
EGF	226	258	5.57e-4	SMART
EGF_Lam	274	313	1.26e-2	SMART
EGF_Lam	317	357	2.52e-2	SMART
EGF_Lam	361	402	4.16e-3	SMART
EGF	401	433	6.21e-2	SMART
EGF	444	476	4.1e-2	SMART
EGF	487	519	7.02e-1	SMART
EGF_Lam	535	574	1.43e-1	SMART
EGF_Lam	578	617	5.04e-2	SMART
EGF	616	650	8.52e0	SMART
EGF	661	693	9.41e-2	SMART
EGF	704	736	8.52e0	SMART
EGF_Lam	752	791	2.99e-4	SMART
EGF	790	822	1.14e0	SMART
transmembrane domain	848	870	N/A	INTRINSIC
low complexity region	895	909	N/A	INTRINSIC
low complexity region	1022	1037	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093829
AA Change: D430V

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

SMART Domains

Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: D430V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	74	84	N/A	INTRINSIC
EGF_Lam	114	153	9.55e-3	SMART
EGF_Lam	157	196	2e-5	SMART
EGF	195	227	5.57e-4	SMART
EGF_Lam	243	282	1.26e-2	SMART
EGF_Lam	286	326	2.52e-2	SMART
EGF_Lam	330	371	4.16e-3	SMART
EGF	370	402	6.21e-2	SMART
EGF	413	445	4.1e-2	SMART
EGF	456	488	7.02e-1	SMART
EGF_Lam	504	543	1.43e-1	SMART
EGF_Lam	547	586	5.04e-2	SMART
EGF	585	619	8.52e0	SMART
EGF	630	662	9.41e-2	SMART
EGF_Lam	678	717	2.99e-4	SMART
EGF	716	748	1.14e0	SMART
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	821	835	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118485
AA Change: D461V

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

SMART Domains

Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: D461V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	74	84	N/A	INTRINSIC
EGF	101	129	1.85e0	SMART
EGF_Lam	145	184	9.55e-3	SMART
EGF_Lam	188	227	2e-5	SMART
EGF	226	258	5.57e-4	SMART
EGF_Lam	274	313	1.26e-2	SMART
EGF_Lam	317	357	2.52e-2	SMART
EGF_Lam	361	402	4.16e-3	SMART
EGF	401	433	6.21e-2	SMART
EGF	444	476	4.1e-2	SMART
EGF	487	519	7.02e-1	SMART
EGF_Lam	535	574	1.43e-1	SMART
EGF_Lam	578	617	5.04e-2	SMART
EGF	616	650	8.52e0	SMART
EGF	661	693	9.41e-2	SMART
EGF	704	736	8.52e0	SMART
EGF_Lam	752	791	2.99e-4	SMART
EGF	790	822	1.14e0	SMART
transmembrane domain	848	870	N/A	INTRINSIC
low complexity region	926	941	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124881
AA Change: D51V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
AA Change: D51V

Domain	Start	End	E-Value	Type
EGF_like	3	36	2.79e0	SMART
EGF	35	67	4.1e-2	SMART
EGF	78	110	7.02e-1	SMART
EGF_Lam	126	165	1.43e-1	SMART
EGF	164	196	1.64e-1	SMART
EGF_Lam	212	251	2.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144383

Predicted Effect

probably damaging
Transcript: ENSMUST00000164113
AA Change: D461V

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

SMART Domains

Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: D461V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	74	84	N/A	INTRINSIC
EGF	101	129	1.85e0	SMART
EGF_Lam	145	184	9.55e-3	SMART
EGF_Lam	188	227	2e-5	SMART
EGF	226	258	5.57e-4	SMART
EGF_Lam	274	313	1.26e-2	SMART
EGF_Lam	317	357	2.52e-2	SMART
EGF_Lam	361	402	4.16e-3	SMART
EGF	401	433	6.21e-2	SMART
EGF	444	476	4.1e-2	SMART
EGF	487	519	7.02e-1	SMART
EGF_Lam	535	574	1.43e-1	SMART
EGF_Lam	578	617	5.04e-2	SMART
EGF	616	650	8.52e0	SMART
EGF	661	693	9.41e-2	SMART
EGF_Lam	709	748	2.99e-4	SMART
EGF	747	779	1.14e0	SMART
transmembrane domain	805	827	N/A	INTRINSIC
low complexity region	852	866	N/A	INTRINSIC
low complexity region	979	994	N/A	INTRINSIC

Meta Mutation Damage Score

0.3612

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of horizontal cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adamts5	C	A	16: 85,899,243	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Aen	G	C	7: 78,902,672	E32Q	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgap44	A	G	11: 65,012,096	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
Bmpr2	T	C	1: 59,868,397	V883A	possibly damaging	Het
Bpifa1	A	T	2: 154,145,634	I135F	probably damaging	Het
Bsn	A	G	9: 108,114,651	F1301L	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,228,995	E1434G	probably damaging	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,956,518	T450M	probably benign	Het
Dlg4	A	G	11: 70,039,575	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,712,385	T1458K	probably benign	Het
Dock5	A	T	14: 67,786,316	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,580,548	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fndc11	A	T	2: 181,221,834	D144V	probably benign	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Ganab	T	A	19: 8,910,808	D439E	probably damaging	Het
Gm10228	C	A	16: 89,041,353	G21V	unknown	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gm9573	A	T	17: 35,622,524		probably benign	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,902,780	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Kcnq2	T	A	2: 181,088,451	D446V	probably benign	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Lrrcc1	A	G	3: 14,550,393	R394G	probably benign	Het
Lrrk2	G	A	15: 91,736,661		probably null	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Msrb3	A	G	10: 120,852,008	V54A	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,034,412	T1314I	probably damaging	Het
Nes	A	G	3: 87,978,514	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,457,315	Q285P	probably damaging	Het
Nkd1	C	T	8: 88,592,117	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Olfr1333	T	C	4: 118,830,026	N139S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr1469	T	C	19: 13,410,779	V70A	possibly damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Otx1	G	T	11: 21,998,482	T46K	probably damaging	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,478,899	L304*	probably null	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,892,270	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,868,467	D19G	probably damaging	Het
Rimbp3	G	A	16: 17,210,427	V572I	probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Syngr3	T	C	17: 24,687,706	N45S	probably benign	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Usf2	T	C	7: 30,956,238	T1A	probably null	Het
Vill	A	T	9: 119,058,492	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,014,419		probably null	Het

Other mutations in Megf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Megf11	APN	9	64508727	missense	probably damaging	1.00
IGL01285:Megf11	APN	9	64660446	missense	probably damaging	1.00
IGL01309:Megf11	APN	9	64681416	missense	probably benign	0.01
IGL01953:Megf11	APN	9	64690088	missense	probably damaging	1.00
IGL02341:Megf11	APN	9	64544620	missense	probably damaging	1.00
IGL02407:Megf11	APN	9	64680249	missense	probably damaging	1.00
IGL02621:Megf11	APN	9	64693932	missense	probably benign	0.07
R0277:Megf11	UTSW	9	64691350	critical splice donor site	probably null
R0386:Megf11	UTSW	9	64640078	missense	probably damaging	1.00
R1354:Megf11	UTSW	9	64653177	missense	probably benign	0.00
R1709:Megf11	UTSW	9	64695412	missense	probably damaging	1.00
R1865:Megf11	UTSW	9	64680299	missense	probably benign	0.39
R1895:Megf11	UTSW	9	64679276	missense	probably damaging	1.00
R2221:Megf11	UTSW	9	64660431	missense	possibly damaging	0.63
R2223:Megf11	UTSW	9	64660431	missense	possibly damaging	0.63
R3552:Megf11	UTSW	9	64695463	missense	possibly damaging	0.75
R4641:Megf11	UTSW	9	64690125	missense	possibly damaging	0.93
R4746:Megf11	UTSW	9	64508745	missense	probably damaging	1.00
R5594:Megf11	UTSW	9	64686473	missense	probably damaging	1.00
R5716:Megf11	UTSW	9	64506110	missense	possibly damaging	0.72
R5898:Megf11	UTSW	9	64685964	missense	probably damaging	1.00
R5960:Megf11	UTSW	9	64660449	missense	probably benign	0.00
R6372:Megf11	UTSW	9	64706625	missense	probably damaging	1.00
R6811:Megf11	UTSW	9	64544641	missense	probably damaging	0.99
R6868:Megf11	UTSW	9	64680309	missense	probably damaging	1.00
R6980:Megf11	UTSW	9	64705850	missense	probably damaging	1.00
R6984:Megf11	UTSW	9	64686452	missense	probably benign
R7155:Megf11	UTSW	9	64647951	missense	probably null	1.00
R7638:Megf11	UTSW	9	64679253	missense	probably damaging	0.96
R7643:Megf11	UTSW	9	64706632	missense	probably damaging	1.00
R7688:Megf11	UTSW	9	64691864	missense	possibly damaging	0.92
R7840:Megf11	UTSW	9	64695427	missense	possibly damaging	0.94
R8744:Megf11	UTSW	9	64544688	critical splice donor site	probably null
R8799:Megf11	UTSW	9	64681391	missense	probably benign	0.05
R9383:Megf11	UTSW	9	64638450	missense	probably damaging	1.00
R9493:Megf11	UTSW	9	64640094	missense	probably damaging	1.00
R9797:Megf11	UTSW	9	64638309	missense	possibly damaging	0.83
V5088:Megf11	UTSW	9	64690069	nonsense	probably null
V5622:Megf11	UTSW	9	64690069	nonsense	probably null
V5622:Megf11	UTSW	9	64690069	nonsense	probably null
Z1088:Megf11	UTSW	9	64660476	missense	probably damaging	1.00
Z1177:Megf11	UTSW	9	64680326	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTTGGAAGCATGGACATC -3'
(R):5'- AGACCATGTGGCTCACCTTC -3'

Sequencing Primer
(F):5'- CATGGACATCAGGAGGAGCACC -3'
(R):5'- TCAGCAATTCCAAACCCGG -3'

Posted On

2014-08-01