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: 0.107) 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
dictator	UTSW	16	33706997	missense	probably benign	0.26
hegemon	UTSW	16	33760803	missense	probably damaging	1.00
wittgenstein	UTSW	16	33720730	nonsense	probably null
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
R7942:Heg1	UTSW	16	33751200	missense	probably damaging	1.00
R7977:Heg1	UTSW	16	33720730	nonsense	probably null
R7984:Heg1	UTSW	16	33763575	missense	possibly damaging	0.83
R7987:Heg1	UTSW	16	33720730	nonsense	probably null
R8023:Heg1	UTSW	16	33730525	missense	possibly damaging	0.61
R8312:Heg1	UTSW	16	33726675	missense	probably benign	0.02
R8745:Heg1	UTSW	16	33735616	missense	probably benign	0.00
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