Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Heg1'

20841

Institutional Source

Beutler Lab

Gene Symbol

Heg1

Ensembl Gene

ENSMUSG00000075254

Gene Name

heart development protein with EGF-like domains 1

Synonyms

9530025L16Rik, 4632417D23Rik, LOC268884, 5530401I02Rik

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

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

Stock #

R0116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33504754-33591946 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33556028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000152782] [ENSMUST00000232568]

AlphaFold

E9Q7X6

Predicted Effect

probably benign
Transcript: ENSMUST00000126532

SMART Domains

Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	53	66	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
low complexity region	175	190	N/A	INTRINSIC
low complexity region	265	282	N/A	INTRINSIC
low complexity region	471	480	N/A	INTRINSIC
low complexity region	486	502	N/A	INTRINSIC
low complexity region	556	575	N/A	INTRINSIC
low complexity region	637	682	N/A	INTRINSIC
low complexity region	868	888	N/A	INTRINSIC
EGF	944	979	4e-5	SMART
EGF_CA	981	1019	1.01e-10	SMART
EGF_like	1139	1187	6.81e1	SMART
transmembrane domain	1204	1226	N/A	INTRINSIC
PDB:4HDQ\|C	1312	1337	2e-10	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132797

Predicted Effect

probably benign
Transcript: ENSMUST00000152782

SMART Domains

Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	53	66	N/A	INTRINSIC
low complexity region	68	104	N/A	INTRINSIC
low complexity region	170	183	N/A	INTRINSIC
low complexity region	185	202	N/A	INTRINSIC
low complexity region	301	320	N/A	INTRINSIC
low complexity region	382	427	N/A	INTRINSIC
low complexity region	613	633	N/A	INTRINSIC
EGF	689	724	4e-5	SMART
EGF_CA	726	764	1.01e-10	SMART
EGF_like	884	932	6.81e1	SMART
transmembrane domain	949	971	N/A	INTRINSIC
PDB:4HDQ\|C	1057	1082	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000232568

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(3) Gene trapped(3)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,770,656 (GRCm39)	V418I	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,838,264 (GRCm39)	L729F	probably benign	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Mus81	G	T	19: 5,536,552 (GRCm39)	A138D	probably damaging	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Prss12	T	C	3: 123,276,423 (GRCm39)	C351R	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,603,344 (GRCm39)	S165N	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	Het

Other mutations in Heg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Heg1	APN	16	33,530,977 (GRCm39)	missense	probably damaging	0.98
IGL01133:Heg1	APN	16	33,547,657 (GRCm39)	missense	probably benign	0.01
IGL01410:Heg1	APN	16	33,545,936 (GRCm39)	missense	possibly damaging	0.95
IGL01561:Heg1	APN	16	33,587,038 (GRCm39)	missense	probably benign	0.27
IGL02449:Heg1	APN	16	33,559,095 (GRCm39)	critical splice donor site	probably null
IGL02523:Heg1	APN	16	33,558,992 (GRCm39)	missense	probably damaging	1.00
IGL02794:Heg1	APN	16	33,546,992 (GRCm39)	missense	probably damaging	0.99
IGL03240:Heg1	APN	16	33,547,783 (GRCm39)	missense	probably benign	0.02
cardiac	UTSW	16	33,583,961 (GRCm39)	missense	probably damaging	1.00
dictator	UTSW	16	33,527,367 (GRCm39)	missense	probably benign	0.26
hegemon	UTSW	16	33,581,173 (GRCm39)	missense	probably damaging	1.00
oedema	UTSW	16	33,558,961 (GRCm39)	missense	probably benign	0.03
wittgenstein	UTSW	16	33,541,100 (GRCm39)	nonsense	probably null
I2289:Heg1	UTSW	16	33,583,829 (GRCm39)	missense	probably damaging	1.00
R0089:Heg1	UTSW	16	33,583,985 (GRCm39)	missense	probably damaging	1.00
R0514:Heg1	UTSW	16	33,547,126 (GRCm39)	missense	possibly damaging	0.86
R0589:Heg1	UTSW	16	33,552,077 (GRCm39)	missense	probably damaging	1.00
R0942:Heg1	UTSW	16	33,581,173 (GRCm39)	missense	probably damaging	1.00
R1084:Heg1	UTSW	16	33,527,367 (GRCm39)	missense	probably benign	0.26
R1109:Heg1	UTSW	16	33,583,961 (GRCm39)	missense	probably damaging	1.00
R1375:Heg1	UTSW	16	33,547,679 (GRCm39)	missense	possibly damaging	0.60
R1375:Heg1	UTSW	16	33,547,246 (GRCm39)	missense	possibly damaging	0.75
R1550:Heg1	UTSW	16	33,555,923 (GRCm39)	missense	probably damaging	1.00
R1720:Heg1	UTSW	16	33,527,549 (GRCm39)	missense	probably benign	0.44
R1739:Heg1	UTSW	16	33,558,953 (GRCm39)	missense	possibly damaging	0.94
R2068:Heg1	UTSW	16	33,547,960 (GRCm39)	missense	probably benign	0.14
R2397:Heg1	UTSW	16	33,562,849 (GRCm39)	missense	probably damaging	0.99
R4353:Heg1	UTSW	16	33,530,847 (GRCm39)	missense	probably benign	0.41
R4419:Heg1	UTSW	16	33,547,805 (GRCm39)	missense	probably benign	0.23
R4420:Heg1	UTSW	16	33,547,805 (GRCm39)	missense	probably benign	0.23
R4779:Heg1	UTSW	16	33,540,142 (GRCm39)	missense	probably benign	0.41
R5066:Heg1	UTSW	16	33,559,041 (GRCm39)	missense	probably benign	0.41
R5227:Heg1	UTSW	16	33,583,961 (GRCm39)	missense	probably damaging	1.00
R5494:Heg1	UTSW	16	33,545,804 (GRCm39)	missense	probably benign	0.44
R5645:Heg1	UTSW	16	33,527,333 (GRCm39)	missense	probably benign
R5708:Heg1	UTSW	16	33,562,774 (GRCm39)	missense	probably damaging	0.99
R5934:Heg1	UTSW	16	33,547,289 (GRCm39)	missense	probably damaging	1.00
R6074:Heg1	UTSW	16	33,547,573 (GRCm39)	missense	possibly damaging	0.49
R6374:Heg1	UTSW	16	33,547,499 (GRCm39)	missense	possibly damaging	0.86
R6398:Heg1	UTSW	16	33,587,145 (GRCm39)	missense	probably damaging	0.99
R6774:Heg1	UTSW	16	33,558,638 (GRCm39)	missense	probably damaging	1.00
R6843:Heg1	UTSW	16	33,539,896 (GRCm39)	missense	probably benign	0.41
R7091:Heg1	UTSW	16	33,547,090 (GRCm39)	missense	probably benign	0.01
R7183:Heg1	UTSW	16	33,558,920 (GRCm39)	splice site	probably null
R7186:Heg1	UTSW	16	33,552,034 (GRCm39)	missense	probably damaging	1.00
R7294:Heg1	UTSW	16	33,546,859 (GRCm39)	missense	probably damaging	0.99
R7304:Heg1	UTSW	16	33,581,160 (GRCm39)	missense	possibly damaging	0.52
R7405:Heg1	UTSW	16	33,583,819 (GRCm39)	missense	possibly damaging	0.66
R7614:Heg1	UTSW	16	33,547,733 (GRCm39)	missense	probably benign
R7638:Heg1	UTSW	16	33,547,867 (GRCm39)	missense	probably damaging	1.00
R7880:Heg1	UTSW	16	33,539,879 (GRCm39)	missense	possibly damaging	0.93
R7942:Heg1	UTSW	16	33,571,570 (GRCm39)	missense	probably damaging	1.00
R7977:Heg1	UTSW	16	33,541,100 (GRCm39)	nonsense	probably null
R7984:Heg1	UTSW	16	33,583,945 (GRCm39)	missense	possibly damaging	0.83
R7987:Heg1	UTSW	16	33,541,100 (GRCm39)	nonsense	probably null
R8023:Heg1	UTSW	16	33,550,895 (GRCm39)	missense	possibly damaging	0.61
R8312:Heg1	UTSW	16	33,547,045 (GRCm39)	missense	probably benign	0.02
R8745:Heg1	UTSW	16	33,555,986 (GRCm39)	missense	probably benign	0.00
R8843:Heg1	UTSW	16	33,570,863 (GRCm39)	missense	probably null	1.00
R8911:Heg1	UTSW	16	33,558,627 (GRCm39)	nonsense	probably null
R9036:Heg1	UTSW	16	33,527,339 (GRCm39)	missense	probably benign
R9149:Heg1	UTSW	16	33,558,961 (GRCm39)	missense	probably benign	0.03
R9351:Heg1	UTSW	16	33,545,867 (GRCm39)	missense	probably benign	0.41
R9682:Heg1	UTSW	16	33,541,298 (GRCm39)	missense	probably benign	0.26
X0066:Heg1	UTSW	16	33,547,786 (GRCm39)	missense	probably benign	0.16
Z1177:Heg1	UTSW	16	33,541,057 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATAGCCTTGCGTTGGTCTC -3'
(R):5'- GTGTTTGCCCAAGAAAACGGAACAG -3'

Sequencing Primer
(F):5'- CTTGCGTTGGTCTCTGCTG -3'
(R):5'- GCCTGCATATGAAGAGCACTC -3'

Posted On

2013-04-11