Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Heg1'

694931

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

Accession Numbers

Essential gene?

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

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33504754-33591946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33558961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1085 (K1085E)

Ref Sequence

ENSEMBL: ENSMUSP00000119790 (fasta)

Gene Model

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

AlphaFold

E9Q7X6

Predicted Effect

probably benign
Transcript: ENSMUST00000126532
AA Change: K1085E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: K1085E

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 benign
Transcript: ENSMUST00000152782
AA Change: K830E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: K830E

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
AA Change: K1061E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,244,917 (GRCm39)	E187D	possibly damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Hmbs	G	A	9: 44,252,983 (GRCm39)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,867,492 (GRCm39)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Kifc3	A	G	8: 95,853,317 (GRCm39)	I13T	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,097,010 (GRCm39)	R445L	probably benign	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	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
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
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'- TTACAGCCAATACACCGGG -3'
(R):5'- AGCTTTTCTGGGCCTGAGTC -3'

Sequencing Primer
(F):5'- GGTAACCCAAGACCACGGTC -3'
(R):5'- GTCTATGCCTACCTGCAAGAG -3'

Posted On

2022-01-20