Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02523:Heg1'

296953

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

9530025L16Rik, 4632417D23Rik, LOC268884, 5530401I02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02523

Quality Score

Status

Chromosome

Chromosomal Location

33504754-33591946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33558992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1071 (T1071K)

Ref Sequence

ENSEMBL: ENSMUSP00000155944 (fasta)

Gene Model

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

AlphaFold

E9Q7X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000126532
AA Change: T1095K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: T1095K

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 damaging
Transcript: ENSMUST00000152782
AA Change: T840K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: T840K

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 damaging
Transcript: ENSMUST00000232568
AA Change: T1071K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	T	C	8: 41,804,984 (GRCm39)	D109G	probably benign	Het
Ces2c	C	A	8: 105,574,746 (GRCm39)	P68T	probably damaging	Het
Csl	G	A	10: 99,594,675 (GRCm39)	T130I	probably benign	Het
Cyp2g1	C	T	7: 26,518,612 (GRCm39)	R376W	probably damaging	Het
Ddb1	T	C	19: 10,604,996 (GRCm39)	L1029P	probably damaging	Het
Dennd4c	T	C	4: 86,692,490 (GRCm39)		probably benign	Het
Eya2	C	T	2: 165,596,356 (GRCm39)		probably benign	Het
Fars2	G	T	13: 36,388,676 (GRCm39)	G55V	probably damaging	Het
Fcgbp	C	A	7: 27,804,157 (GRCm39)	A1755E	possibly damaging	Het
Ggt7	T	A	2: 155,356,623 (GRCm39)	E32V	probably damaging	Het
Hpca	A	G	4: 129,012,368 (GRCm39)	F56S	probably damaging	Het
Hyal4	T	A	6: 24,765,968 (GRCm39)	Y441N	probably damaging	Het
Igsf8	T	A	1: 172,146,980 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,459,109 (GRCm39)	S301P	probably benign	Het
Krt33a	G	A	11: 99,902,518 (GRCm39)	T374I	probably benign	Het
Nav3	T	C	10: 109,605,157 (GRCm39)	D972G	probably damaging	Het
Npc1	T	C	18: 12,334,629 (GRCm39)	T708A	probably benign	Het
Or10ag52	A	T	2: 87,043,664 (GRCm39)	N143Y	probably benign	Het
Or13p10	A	T	4: 118,523,238 (GRCm39)	N175Y	probably benign	Het
Or1l8	T	C	2: 36,817,967 (GRCm39)	D53G	probably damaging	Het
Or6d14	A	T	6: 116,534,054 (GRCm39)	I223L	probably benign	Het
P2rx2	A	G	5: 110,489,908 (GRCm39)	S87P	probably damaging	Het
Pdxdc1	A	T	16: 13,699,799 (GRCm39)	L62H	probably damaging	Het
Plekhj1	A	T	10: 80,633,683 (GRCm39)		probably null	Het
Ptbp2	A	T	3: 119,534,136 (GRCm39)	Y244*	probably null	Het
Ralbp1	T	C	17: 66,166,086 (GRCm39)	E366G	probably damaging	Het
Rergl	T	A	6: 139,473,458 (GRCm39)		probably benign	Het
Slc25a45	T	A	19: 5,934,637 (GRCm39)		probably null	Het
Spop	G	A	11: 95,376,747 (GRCm39)	D267N	possibly damaging	Het
Tars2	T	C	3: 95,648,705 (GRCm39)	D625G	probably damaging	Het
Tlk2	A	G	11: 105,166,773 (GRCm39)	K593R	probably damaging	Het
Tlr3	T	A	8: 45,851,428 (GRCm39)		probably null	Het
Tmem205	C	T	9: 21,832,584 (GRCm39)	R109H	probably benign	Het
Tmem41b	A	G	7: 109,581,935 (GRCm39)	I56T	probably damaging	Het
Ube2q2	T	C	9: 55,099,163 (GRCm39)	V168A	probably damaging	Het
Ufsp2	T	A	8: 46,436,585 (GRCm39)	M112K	probably damaging	Het
Wipi2	T	A	5: 142,646,787 (GRCm39)	V208E	probably damaging	Het
Xkr9	A	G	1: 13,754,474 (GRCm39)	E156G	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
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
R0116:Heg1	UTSW	16	33,556,028 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16