Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00966:Heg1'

306614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heg1

Ensembl Gene

ENSMUSG00000075254

Gene Name

heart development protein with EGF-like domains 1

Synonyms

5530401I02Rik, 9530025L16Rik, LOC268884, 4632417D23Rik

Accession Numbers

Genbank: NM_175256.5

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

33684370-33771576 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33710607 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 151 (L151P)

Ref Sequence

ENSEMBL: ENSMUSP00000123686 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126532
AA Change: L248P

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

SMART Domains

Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: L248P

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

probably damaging
Transcript: ENSMUST00000152782
AA Change: L151P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: L151P

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

noncoding transcript
Transcript: ENSMUST00000154863

Predicted Effect

unknown
Transcript: ENSMUST00000232568
AA Change: L151P

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	A	7: 29,537,463		noncoding transcript	Het
5430419D17Rik	T	A	7: 131,243,107	Y692*	probably null	Het
Acad11	A	G	9: 104,126,656	E649G	probably damaging	Het
Adgre1	C	A	17: 57,419,335	T402K	probably benign	Het
Agap3	A	G	5: 24,501,002		probably benign	Het
Amy1	T	C	3: 113,556,040	I494V	probably benign	Het
Arhgef40	G	A	14: 51,991,698		probably null	Het
Atp2c2	T	C	8: 119,745,590	V461A	probably benign	Het
Bub1	A	G	2: 127,810,663	S595P	probably damaging	Het
Cmya5	C	T	13: 93,097,906	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cux1	A	T	5: 136,311,491		probably benign	Het
Dsg3	T	A	18: 20,523,607	I178N	probably benign	Het
Dus2	T	A	8: 106,025,901		probably null	Het
Enpp1	G	A	10: 24,654,031	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,217,294	T57P	probably benign	Het
Fat3	C	A	9: 15,999,094	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,798,047	T130A	probably benign	Het
Fbxl20	C	T	11: 98,110,974	S99N	probably damaging	Het
Folr2	T	C	7: 101,840,386	E182G	probably damaging	Het
Fras1	A	G	5: 96,555,221	D281G	probably benign	Het
Gm17175	G	T	14: 51,573,069	Q34K	possibly damaging	Het
Gm5592	T	A	7: 41,289,095	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,515,730	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,170,173		probably benign	Het
Hmcn2	T	G	2: 31,428,994	V3902G	probably damaging	Het
Ift140	A	G	17: 25,018,802	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,708,949	V17G	possibly damaging	Het
Iqca	T	A	1: 90,045,657	I770F	probably benign	Het
Jak3	T	A	8: 71,679,012	C115S	probably benign	Het
Kif18b	A	T	11: 102,914,675	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,966,925	V237D	probably benign	Het
Klhl11	C	T	11: 100,463,205	V597I	possibly damaging	Het
Krt72	T	A	15: 101,780,961	Y312F	probably damaging	Het
Lonp2	T	A	8: 86,633,972	I191N	probably damaging	Het
Npc2	A	T	12: 84,772,845	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,272,788	L413P	probably damaging	Het
Nup133	T	C	8: 123,911,906	N895S	probably damaging	Het
Olfr869	T	C	9: 20,137,235	F40L	probably benign	Het
Ppef1	A	G	X: 160,685,294	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,456	T290I	probably benign	Het
Ptpru	A	T	4: 131,772,616	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,852,992	M117L	probably benign	Het
S1pr5	T	A	9: 21,244,216	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 55,898,006	V160A	probably damaging	Het
Slc6a21	C	T	7: 45,288,244	T653M	probably benign	Het
Stk39	T	A	2: 68,211,958	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,142,501	T313A	probably benign	Het
Tle6	A	T	10: 81,594,458	L287M	probably damaging	Het
Tmc2	A	G	2: 130,264,012	H821R	probably benign	Het
Tmem230	G	T	2: 132,245,977	D26E	probably benign	Het
Tnfaip3	A	G	10: 19,005,137	F394S	probably damaging	Het
Ttn	T	A	2: 76,811,377	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,723,379	N161I	probably benign	Het

Other mutations in Heg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Heg1	APN	16	33727287	missense	probably benign	0.01
IGL01410:Heg1	APN	16	33725566	missense	possibly damaging	0.95
IGL01561:Heg1	APN	16	33766668	missense	probably benign	0.27
IGL02449:Heg1	APN	16	33738725	critical splice donor site	probably null
IGL02523:Heg1	APN	16	33738622	missense	probably damaging	1.00
IGL02794:Heg1	APN	16	33726622	missense	probably damaging	0.99
IGL03240:Heg1	APN	16	33727413	missense	probably benign	0.02
I2289:Heg1	UTSW	16	33763459	missense	probably damaging	1.00
R0089:Heg1	UTSW	16	33763615	missense	probably damaging	1.00
R0116:Heg1	UTSW	16	33735658	splice site	probably benign
R0514:Heg1	UTSW	16	33726756	missense	possibly damaging	0.86
R0589:Heg1	UTSW	16	33731707	missense	probably damaging	1.00
R0942:Heg1	UTSW	16	33760803	missense	probably damaging	1.00
R1084:Heg1	UTSW	16	33706997	missense	probably benign	0.26
R1109:Heg1	UTSW	16	33763591	missense	probably damaging	1.00
R1375:Heg1	UTSW	16	33726876	missense	possibly damaging	0.75
R1375:Heg1	UTSW	16	33727309	missense	possibly damaging	0.60
R1550:Heg1	UTSW	16	33735553	missense	probably damaging	1.00
R1720:Heg1	UTSW	16	33707179	missense	probably benign	0.44
R1739:Heg1	UTSW	16	33738583	missense	possibly damaging	0.94
R2068:Heg1	UTSW	16	33727590	missense	probably benign	0.14
R2397:Heg1	UTSW	16	33742479	missense	probably damaging	0.99
R4353:Heg1	UTSW	16	33710477	missense	probably benign	0.41
R4419:Heg1	UTSW	16	33727435	missense	probably benign	0.23
R4420:Heg1	UTSW	16	33727435	missense	probably benign	0.23
R4779:Heg1	UTSW	16	33719772	missense	probably benign	0.41
R5066:Heg1	UTSW	16	33738671	missense	probably benign	0.41
R5227:Heg1	UTSW	16	33763591	missense	probably damaging	1.00
R5494:Heg1	UTSW	16	33725434	missense	probably benign	0.44
R5645:Heg1	UTSW	16	33706963	missense	probably benign
R5708:Heg1	UTSW	16	33742404	missense	probably damaging	0.99
R5934:Heg1	UTSW	16	33726919	missense	probably damaging	1.00
R6074:Heg1	UTSW	16	33727203	missense	possibly damaging	0.49
R6374:Heg1	UTSW	16	33727129	missense	possibly damaging	0.86
R6398:Heg1	UTSW	16	33766775	missense	probably damaging	0.99
R6774:Heg1	UTSW	16	33738268	missense	probably damaging	1.00
R6843:Heg1	UTSW	16	33719526	missense	probably benign	0.41
R7091:Heg1	UTSW	16	33726720	missense	probably benign	0.01
R7183:Heg1	UTSW	16	33738550	splice site	probably null
R7186:Heg1	UTSW	16	33731664	missense	probably damaging	1.00
R7294:Heg1	UTSW	16	33726489	missense	probably damaging	0.99
R7304:Heg1	UTSW	16	33760790	missense	possibly damaging	0.52
R7405:Heg1	UTSW	16	33763449	missense	possibly damaging	0.66
R7614:Heg1	UTSW	16	33727363	missense	probably benign
R7638:Heg1	UTSW	16	33727497	missense	probably damaging	1.00
R7880:Heg1	UTSW	16	33719509	missense	possibly damaging	0.93
R7963:Heg1	UTSW	16	33719509	missense	possibly damaging	0.93
R8023:Heg1	UTSW	16	33730525	missense	possibly damaging	0.61
X0066:Heg1	UTSW	16	33727416	missense	probably benign	0.16
Z1177:Heg1	UTSW	16	33720687	missense	probably damaging	0.99

Posted On

2015-04-16