Mutagenetix > Incidental Mutation

Incidental Mutation 'R6372:Megf11'

513584

Institutional Source

Beutler Lab

Gene Symbol

Megf11

Ensembl Gene

ENSMUSG00000036466

Gene Name

multiple EGF-like-domains 11

Synonyms

2410080H04Rik

MMRRC Submission

044522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R6372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64292908-64616487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64613907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1077 (Y1077H)

Ref Sequence

ENSEMBL: ENSMUSP00000128672 (fasta)

Gene Model

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

AlphaFold

Q80T91

Predicted Effect

probably benign
Transcript: ENSMUST00000068967

SMART Domains

Protein: ENSMUSP00000065353
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	895	909	N/A	INTRINSIC
low complexity region	1022	1037	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118485
AA Change: Y1024H

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: Y1024H

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

noncoding transcript
Transcript: ENSMUST00000153934

Predicted Effect

probably damaging
Transcript: ENSMUST00000164113
AA Change: Y1077H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: Y1077H

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

0.2460

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,066,088 (GRCm39)	H136Q	possibly damaging	Het
Aim2	T	A	1: 173,282,802 (GRCm39)		probably null	Het
Atp13a3	T	C	16: 30,162,273 (GRCm39)	H696R	probably damaging	Het
Atrnl1	T	C	19: 57,638,764 (GRCm39)	S301P	probably benign	Het
Atxn1	T	A	13: 45,710,932 (GRCm39)	I667F	probably damaging	Het
Cacnb4	T	A	2: 52,324,679 (GRCm39)	Y415F	probably benign	Het
Ccdc183	T	C	2: 25,506,176 (GRCm39)	D140G	probably benign	Het
Clec2g	A	C	6: 128,925,726 (GRCm39)	H45P	probably benign	Het
Col5a3	A	G	9: 20,696,882 (GRCm39)	V917A	probably damaging	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Dnajc28	T	C	16: 91,414,176 (GRCm39)	I23V	probably benign	Het
Elovl6	T	C	3: 129,426,751 (GRCm39)	F139S	probably damaging	Het
Fcgbp	A	G	7: 27,806,433 (GRCm39)	T2134A	probably damaging	Het
Fcrl5	C	T	3: 87,351,501 (GRCm39)	Q250*	probably null	Het
Gimap1	T	A	6: 48,720,290 (GRCm39)	*301K	probably null	Het
Gm17472	T	C	6: 42,957,823 (GRCm39)	S31P	possibly damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gnl1	T	C	17: 36,293,427 (GRCm39)	F204S	probably damaging	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hk1	T	C	10: 62,127,757 (GRCm39)	H370R	probably benign	Het
Ighv7-2	G	A	12: 113,876,075 (GRCm39)	T10I	probably benign	Het
Itga9	A	G	9: 118,726,389 (GRCm39)	K448E	probably damaging	Het
Lama4	C	A	10: 38,943,948 (GRCm39)	N750K	probably benign	Het
Mrpl45	T	C	11: 97,212,388 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,457,812 (GRCm39)	D2185G	possibly damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nlrc5	T	C	8: 95,206,378 (GRCm39)	L743P	probably damaging	Het
Nol4	A	G	18: 23,171,613 (GRCm39)		probably null	Het
Nol9	T	C	4: 152,130,452 (GRCm39)	S329P	probably damaging	Het
Ntrk1	T	C	3: 87,693,355 (GRCm39)	D259G	probably benign	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or4k40	T	A	2: 111,251,147 (GRCm39)	I50F	probably benign	Het
Or5al5	T	C	2: 85,961,198 (GRCm39)	T270A	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8h8	T	A	2: 86,753,499 (GRCm39)	I126F	probably damaging	Het
Pbx4	C	A	8: 70,324,694 (GRCm39)	A365E	possibly damaging	Het
Pcdhb19	T	A	18: 37,630,419 (GRCm39)	N71K	probably benign	Het
Pde2a	G	A	7: 101,130,599 (GRCm39)	A80T	probably benign	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Recql	A	G	6: 142,322,566 (GRCm39)	V112A	probably damaging	Het
Rhbdl3	C	A	11: 80,221,482 (GRCm39)	L207I	probably damaging	Het
Rtkn	A	G	6: 83,128,882 (GRCm39)	D459G	possibly damaging	Het
Rubcnl	C	A	14: 75,285,009 (GRCm39)	S509R	probably damaging	Het
Slc26a8	T	C	17: 28,863,777 (GRCm39)	T661A	probably benign	Het
Sspo	A	T	6: 48,449,475 (GRCm39)	D2472V	probably damaging	Het
Taf4b	T	G	18: 14,937,790 (GRCm39)	V258G	probably damaging	Het
Tbc1d19	T	G	5: 54,014,252 (GRCm39)	S293R	possibly damaging	Het
Tecpr1	C	T	5: 144,153,776 (GRCm39)	R159Q	probably damaging	Het
Tlr3	A	G	8: 45,850,048 (GRCm39)	S874P	probably damaging	Het
Tnk2	T	A	16: 32,498,603 (GRCm39)	W639R	probably damaging	Het
Tpmt	C	T	13: 47,189,370 (GRCm39)		probably null	Het
Trappc9	T	A	15: 72,461,923 (GRCm39)	D935V	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,118 (GRCm39)	V4A	probably damaging	Het
Ubn1	C	T	16: 4,899,502 (GRCm39)	T1082I	possibly damaging	Het
Usf2	G	A	7: 30,654,738 (GRCm39)	Q35*	probably null	Het
Vmn1r57	T	C	7: 5,223,826 (GRCm39)	M117T	possibly damaging	Het
Vmn2r65	G	T	7: 84,589,861 (GRCm39)	A685E	probably damaging	Het
Vxn	G	A	1: 9,683,546 (GRCm39)	E45K	probably damaging	Het
Zeb2	T	C	2: 44,892,551 (GRCm39)	E166G	probably damaging	Het
Zfp808	T	C	13: 62,320,291 (GRCm39)	S507P	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
R1865:Megf11	UTSW	9	64,587,581 (GRCm39)	missense	probably benign	0.39
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
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'- TCCTCCTGGATTTGTCAGATG -3'
(R):5'- AGTTACCCCAGTCCCGTTTG -3'

Sequencing Primer
(F):5'- CCTCCTGGATTTGTCAGATGTATAC -3'
(R):5'- CTTTCAATCCAGGTGAAGGAAC -3'

Posted On

2018-04-27