Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Heg1'

568547

Institutional Source

Beutler Lab

Gene Symbol

Heg1

Ensembl Gene

ENSMUSG00000075254

Gene Name

heart development protein with EGF-like domains 1

Synonyms

5530401I02Rik, 9530025L16Rik, LOC268884, 4632417D23Rik

MMRRC Submission

045235-MU

Accession Numbers

Genbank: NM_175256.5

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33684370-33771576 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33738550 bp (GRCm38)

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 null
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

probably null
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 null
Transcript: ENSMUST00000232568

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc42bpg	A	G	19: 6,310,797	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,133,090	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	Het

Other mutations in Heg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Heg1	APN	16	33710607	missense	probably damaging	0.98
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
cardiac	UTSW	16	33763591	missense	probably damaging	1.00
dictator	UTSW	16	33706997	missense	probably benign	0.26
hegemon	UTSW	16	33760803	missense	probably damaging	1.00
oedema	UTSW	16	33738591	missense	probably benign	0.03
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
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
R8843:Heg1	UTSW	16	33750493	missense	probably null	1.00
R8911:Heg1	UTSW	16	33738257	nonsense	probably null
R9036:Heg1	UTSW	16	33706969	missense	probably benign
R9149:Heg1	UTSW	16	33738591	missense	probably benign	0.03
R9351:Heg1	UTSW	16	33725497	missense	probably benign	0.41
R9682:Heg1	UTSW	16	33720928	missense	probably benign	0.26
X0066:Heg1	UTSW	16	33727416	missense	probably benign	0.16
Z1177:Heg1	UTSW	16	33720687	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTACTGTTCCCAAATGAGTGATC -3'
(R):5'- TCTATGCCTACCTGCAAGAGC -3'

Sequencing Primer
(F):5'- GTGATCAAAATAAAGCCAGTCTCTG -3'
(R):5'- AGAGGACTCCCATCTTACCTCG -3'

Posted On

2019-08-19