Mutagenetix > Incidental Mutation

Incidental Mutation 'R1865:Megf11'

208644

Institutional Source

Beutler Lab

Gene Symbol

Megf11

Ensembl Gene

ENSMUSG00000036466

Gene Name

multiple EGF-like-domains 11

Synonyms

2410080H04Rik

MMRRC Submission

039888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1865 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

64292908-64616487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64587581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 460 (T460A)

Ref Sequence

ENSEMBL: ENSMUSP00000091349 (fasta)

Gene Model

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

AlphaFold

Q80T91

Predicted Effect

probably benign
Transcript: ENSMUST00000068967
AA Change: T491A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: T491A

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 benign
Transcript: ENSMUST00000093829
AA Change: T460A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: T460A

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 benign
Transcript: ENSMUST00000118485
AA Change: T491A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: T491A

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

unknown
Transcript: ENSMUST00000124881
AA Change: T81A

SMART Domains

Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
AA Change: T81A

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 benign
Transcript: ENSMUST00000164113
AA Change: T491A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: T491A

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,797,094 (GRCm39)		noncoding transcript	Het
Aatk	G	A	11: 119,901,048 (GRCm39)	T1059M	probably benign	Het
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Aqp9	A	C	9: 71,019,658 (GRCm39)	N267K	probably benign	Het
Arap2	A	G	5: 62,855,606 (GRCm39)	V610A	probably damaging	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Atn1	T	C	6: 124,722,259 (GRCm39)		probably benign	Het
Bcl7a	A	T	5: 123,494,032 (GRCm39)	D68V	probably damaging	Het
Cbl	A	C	9: 44,075,462 (GRCm39)	C394W	probably damaging	Het
Ccdc18	T	A	5: 108,341,668 (GRCm39)	D854E	probably benign	Het
Ccdc93	A	T	1: 121,426,956 (GRCm39)	E580V	probably damaging	Het
Cd180	T	A	13: 102,842,517 (GRCm39)	M521K	probably benign	Het
Cd300ld2	T	G	11: 114,903,444 (GRCm39)		probably benign	Het
Cdh10	T	C	15: 18,899,690 (GRCm39)	F6L	probably benign	Het
Cep78	A	G	19: 15,933,368 (GRCm39)	S737P	probably damaging	Het
Ces1f	G	T	8: 94,000,893 (GRCm39)		probably benign	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Col20a1	T	C	2: 180,657,606 (GRCm39)	L1250P	possibly damaging	Het
Crispld2	G	A	8: 120,737,306 (GRCm39)	G19E	probably benign	Het
Ctbp2	C	T	7: 132,592,283 (GRCm39)	A849T	probably benign	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cul4a	A	G	8: 13,192,589 (GRCm39)	T617A	possibly damaging	Het
Cyp2c68	G	T	19: 39,722,733 (GRCm39)	R272S	probably benign	Het
Cystm1	A	G	18: 36,499,729 (GRCm39)	Y48C	unknown	Het
Dach1	T	A	14: 98,077,645 (GRCm39)	R579S	possibly damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Dnah10	A	C	5: 124,909,590 (GRCm39)		probably null	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Eif4g1	A	G	16: 20,497,398 (GRCm39)	T202A	probably damaging	Het
Ephb4	A	T	5: 137,361,572 (GRCm39)	Q525L	possibly damaging	Het
F2	T	C	2: 91,465,539 (GRCm39)	D82G	probably benign	Het
Fam184b	G	T	5: 45,689,231 (GRCm39)	N868K	possibly damaging	Het
Fbxo25	A	G	8: 13,985,248 (GRCm39)	T314A	probably damaging	Het
Folh1	A	G	7: 86,375,114 (GRCm39)	M624T	possibly damaging	Het
Gabra5	G	A	7: 57,138,940 (GRCm39)	R71*	probably null	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Hmcn1	A	T	1: 150,479,563 (GRCm39)	C4634S	probably damaging	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Igfbp4	G	A	11: 98,932,512 (GRCm39)	G64R	probably damaging	Het
Itch	G	A	2: 155,010,666 (GRCm39)	V45I	probably damaging	Het
Itgb1	T	A	8: 129,446,938 (GRCm39)	F484L	probably benign	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Mast4	A	T	13: 102,930,625 (GRCm39)	V209D	probably damaging	Het
Matn3	T	A	12: 9,002,041 (GRCm39)	D84E	probably damaging	Het
Mcm7	T	A	5: 138,168,637 (GRCm39)	Q18L	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Mlh1	A	T	9: 111,086,092 (GRCm39)		probably benign	Het
Mylk	T	A	16: 34,732,600 (GRCm39)	S627T	probably benign	Het
Nat2	A	G	8: 67,954,204 (GRCm39)	M105V	possibly damaging	Het
Nav2	A	G	7: 49,197,943 (GRCm39)	T2A	possibly damaging	Het
Ndst3	A	T	3: 123,465,120 (GRCm39)	I284N	probably damaging	Het
Nfix	A	G	8: 85,498,904 (GRCm39)	V23A	possibly damaging	Het
Nr2f1	T	C	13: 78,338,045 (GRCm39)	Y200C	probably damaging	Het
Or14a258	T	C	7: 86,035,769 (GRCm39)	Y33C	probably damaging	Het
Or2g25	T	C	17: 37,970,754 (GRCm39)	I157V	possibly damaging	Het
Or6b13	G	A	7: 139,782,285 (GRCm39)	R133C	probably damaging	Het
Or8d1b	T	C	9: 38,887,200 (GRCm39)	V76A	probably benign	Het
Or8u8	T	G	2: 86,011,882 (GRCm39)	D191A	probably damaging	Het
Pcdhb21	T	C	18: 37,647,648 (GRCm39)	V259A	possibly damaging	Het
Phip	A	T	9: 82,827,845 (GRCm39)	V127E	probably damaging	Het
Pik3r5	A	G	11: 68,383,318 (GRCm39)	D379G	probably damaging	Het
Pkdrej	A	T	15: 85,704,525 (GRCm39)	C470*	probably null	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,943,508 (GRCm39)	V1248I	probably damaging	Het
Pou3f2	A	T	4: 22,486,917 (GRCm39)	C405*	probably null	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Rest	T	A	5: 77,428,745 (GRCm39)	V388E	probably damaging	Het
Rnft2	A	T	5: 118,370,540 (GRCm39)	W220R	probably damaging	Het
Rnpc3	A	T	3: 113,415,559 (GRCm39)	Y107*	probably null	Het
Senp8	G	A	9: 59,644,835 (GRCm39)	S94F	probably damaging	Het
Ski	A	G	4: 155,306,698 (GRCm39)	S94P	possibly damaging	Het
Skint8	A	G	4: 111,794,192 (GRCm39)	D194G	probably damaging	Het
Slc35c2	C	A	2: 165,120,303 (GRCm39)	R232L	probably benign	Het
Slc43a3	T	A	2: 84,777,245 (GRCm39)	V198D	possibly damaging	Het
Slc8b1	A	T	5: 120,667,717 (GRCm39)	N467I	probably damaging	Het
Srbd1	A	G	17: 86,422,732 (GRCm39)		probably benign	Het
Sstr3	T	C	15: 78,424,168 (GRCm39)	H193R	probably damaging	Het
Sv2c	A	C	13: 96,113,283 (GRCm39)	S555R	probably benign	Het
Tagln3	A	G	16: 45,532,013 (GRCm39)	V173A	possibly damaging	Het
Tctn2	C	A	5: 124,757,143 (GRCm39)		noncoding transcript	Het
Tfap2a	G	T	13: 40,881,884 (GRCm39)	H167Q	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem30c	A	G	16: 57,090,352 (GRCm39)		probably benign	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Tnxb	C	T	17: 34,922,431 (GRCm39)	Q2415*	probably null	Het
Ttyh1	T	C	7: 4,122,730 (GRCm39)	L26P	probably damaging	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Vdac3	A	T	8: 23,070,553 (GRCm39)	Y119*	probably null	Het
Vmn2r58	T	C	7: 41,486,682 (GRCm39)	I738V	possibly damaging	Het
Zfp704	A	G	3: 9,539,551 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,880,729 (GRCm39)	R352W	probably damaging	Het

Other mutations in Megf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Megf11	APN	9	64,416,009 (GRCm39)	missense	probably damaging	1.00
IGL01285:Megf11	APN	9	64,567,728 (GRCm39)	missense	probably damaging	1.00
IGL01309:Megf11	APN	9	64,588,698 (GRCm39)	missense	probably benign	0.01
IGL01953:Megf11	APN	9	64,597,370 (GRCm39)	missense	probably damaging	1.00
IGL02341:Megf11	APN	9	64,451,902 (GRCm39)	missense	probably damaging	1.00
IGL02407:Megf11	APN	9	64,587,531 (GRCm39)	missense	probably damaging	1.00
IGL02621:Megf11	APN	9	64,601,214 (GRCm39)	missense	probably benign	0.07
R0277:Megf11	UTSW	9	64,598,632 (GRCm39)	critical splice donor site	probably null
R0386:Megf11	UTSW	9	64,547,360 (GRCm39)	missense	probably damaging	1.00
R1354:Megf11	UTSW	9	64,560,459 (GRCm39)	missense	probably benign	0.00
R1709:Megf11	UTSW	9	64,602,694 (GRCm39)	missense	probably damaging	1.00
R1895:Megf11	UTSW	9	64,586,558 (GRCm39)	missense	probably damaging	1.00
R1946:Megf11	UTSW	9	64,586,558 (GRCm39)	missense	probably damaging	1.00
R2221:Megf11	UTSW	9	64,567,713 (GRCm39)	missense	possibly damaging	0.63
R2223:Megf11	UTSW	9	64,567,713 (GRCm39)	missense	possibly damaging	0.63
R3552:Megf11	UTSW	9	64,602,745 (GRCm39)	missense	possibly damaging	0.75
R4641:Megf11	UTSW	9	64,597,407 (GRCm39)	missense	possibly damaging	0.93
R4746:Megf11	UTSW	9	64,416,027 (GRCm39)	missense	probably damaging	1.00
R5594:Megf11	UTSW	9	64,593,755 (GRCm39)	missense	probably damaging	1.00
R5716:Megf11	UTSW	9	64,413,392 (GRCm39)	missense	possibly damaging	0.72
R5898:Megf11	UTSW	9	64,593,246 (GRCm39)	missense	probably damaging	1.00
R5960:Megf11	UTSW	9	64,567,731 (GRCm39)	missense	probably benign	0.00
R6372:Megf11	UTSW	9	64,613,907 (GRCm39)	missense	probably damaging	1.00
R6811:Megf11	UTSW	9	64,451,923 (GRCm39)	missense	probably damaging	0.99
R6868:Megf11	UTSW	9	64,587,591 (GRCm39)	missense	probably damaging	1.00
R6980:Megf11	UTSW	9	64,613,132 (GRCm39)	missense	probably damaging	1.00
R6984:Megf11	UTSW	9	64,593,734 (GRCm39)	missense	probably benign
R7155:Megf11	UTSW	9	64,555,233 (GRCm39)	missense	probably null	1.00
R7638:Megf11	UTSW	9	64,586,535 (GRCm39)	missense	probably damaging	0.96
R7643:Megf11	UTSW	9	64,613,914 (GRCm39)	missense	probably damaging	1.00
R7688:Megf11	UTSW	9	64,599,146 (GRCm39)	missense	possibly damaging	0.92
R7840:Megf11	UTSW	9	64,602,709 (GRCm39)	missense	possibly damaging	0.94
R8744:Megf11	UTSW	9	64,451,970 (GRCm39)	critical splice donor site	probably null
R8799:Megf11	UTSW	9	64,588,673 (GRCm39)	missense	probably benign	0.05
R9383:Megf11	UTSW	9	64,545,732 (GRCm39)	missense	probably damaging	1.00
R9493:Megf11	UTSW	9	64,547,376 (GRCm39)	missense	probably damaging	1.00
R9797:Megf11	UTSW	9	64,545,591 (GRCm39)	missense	possibly damaging	0.83
V5088:Megf11	UTSW	9	64,597,351 (GRCm39)	nonsense	probably null
V5622:Megf11	UTSW	9	64,597,351 (GRCm39)	nonsense	probably null
V5622:Megf11	UTSW	9	64,597,351 (GRCm39)	nonsense	probably null
Z1088:Megf11	UTSW	9	64,567,758 (GRCm39)	missense	probably damaging	1.00
Z1177:Megf11	UTSW	9	64,587,608 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCACAGGCAGCAGAAATG -3'
(R):5'- AGCTACACAGAGGTTGACCC -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- GTTGACCCTCCCTGACTCAGAG -3'

Posted On

2014-06-30