Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Megf11'

269001

Institutional Source

Beutler Lab

Gene Symbol

Megf11

Ensembl Gene

ENSMUSG00000036466

Gene Name

multiple EGF-like-domains 11

Synonyms

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R3552 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

64385626-64709205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64695463 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 862 (D862G)

Ref Sequence

ENSEMBL: ENSMUSP00000091349 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068967
AA Change: D936G

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: D936G

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

possibly damaging
Transcript: ENSMUST00000093829
AA Change: D862G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: D862G

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

SMART Domains

Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466

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

probably benign
Transcript: ENSMUST00000124881

SMART Domains

Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466

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: ENSMUST00000153934

Predicted Effect

probably benign
Transcript: ENSMUST00000164113
AA Change: D893G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: D893G

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

0.0656

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	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
R1946: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
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
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'- TGCCTCTTTGCTGGGGATAC -3'
(R):5'- TAGAGCTTGTCTCCATACATGTTC -3'

Sequencing Primer
(F):5'- TGCATAACCCCAGCATTAGTTTGG -3'
(R):5'- CTTTCCCTGTTATGTGATTCAGAG -3'

Posted On

2015-02-19