Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Megf11'

190333

Institutional Source

Beutler Lab

Gene Symbol

Megf11

Ensembl Gene

ENSMUSG00000036466

Gene Name

multiple EGF-like-domains 11

Synonyms

2410080H04Rik

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

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

Stock #

R1709 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

64292908-64616487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64602694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 876 (Y876C)

Ref Sequence

ENSEMBL: ENSMUSP00000128672 (fasta)

Gene Model

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

AlphaFold

Q80T91

Predicted Effect

probably damaging
Transcript: ENSMUST00000068967
AA Change: Y919C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: Y919C

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: Y845C

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

SMART Domains

Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: Y845C

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 damaging
Transcript: ENSMUST00000164113
AA Change: Y876C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: Y876C

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,256,292 (GRCm39)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,948,581 (GRCm39)	Q297L	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,651,553 (GRCm39)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,554,498 (GRCm39)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Smarca5	G	A	8: 81,435,849 (GRCm39)	R763*	probably null	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	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
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
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'- AAGCCTGGTCCGAGAGCTGTAAAG -3'
(R):5'- CCTGAGGCACAGGTATGTTCCAATG -3'

Sequencing Primer
(F):5'- TAGTGGATGCCACACAGCTTG -3'
(R):5'- CATGGGATAGAGCTTGTCTCCATAC -3'

Posted On

2014-05-14