Mutagenetix > Incidental Mutation

Incidental Mutation 'R9036:Heg1'

687436

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

068865-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R9036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33504754-33591946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33527339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 100 (C100S)

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: C100S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: C100S

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

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 benign
Transcript: ENSMUST00000232568

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	T	11: 54,227,840 (GRCm39)		probably null	Het
Anapc5	A	G	5: 122,957,716 (GRCm39)	L69P	possibly damaging	Het
Aoc1l3	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,965,074 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,055 (GRCm39)	S681T	probably benign	Het
Arhgef19	A	G	4: 140,976,549 (GRCm39)	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,019,089 (GRCm39)	V576A	probably benign	Het
Arl5b	T	C	2: 15,073,012 (GRCm39)		probably null	Het
Atg10	T	A	13: 91,189,071 (GRCm39)	T80S	probably benign	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,887,158 (GRCm39)	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,247,346 (GRCm39)	P500S	probably benign	Het
Ccn2	A	T	10: 24,472,647 (GRCm39)	T186S	probably benign	Het
Ccng1	A	T	11: 40,643,078 (GRCm39)	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,324,680 (GRCm39)	S734F	probably damaging	Het
Cds2	T	C	2: 132,139,614 (GRCm39)		probably null	Het
Cenpw	G	A	10: 30,074,523 (GRCm39)	T58I	probably benign	Het
Cfap61	T	A	2: 145,850,839 (GRCm39)	L326I	probably benign	Het
Cgn	T	A	3: 94,674,551 (GRCm39)	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,016,071 (GRCm39)	D362E	probably damaging	Het
Col22a1	C	T	15: 71,762,431 (GRCm39)	G76E	probably damaging	Het
Cplane1	C	T	15: 8,252,622 (GRCm39)	T1948I	possibly damaging	Het
Crip2	A	G	12: 113,108,030 (GRCm39)	T140A	probably benign	Het
Csde1	T	C	3: 102,950,976 (GRCm39)	V229A	probably damaging	Het
Cyp2d34	A	G	15: 82,500,523 (GRCm39)	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,606,186 (GRCm39)	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495 (GRCm39)	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,916,707 (GRCm39)	T101A	probably benign	Het
Efcab3	A	G	11: 104,927,601 (GRCm39)	H4790R	probably benign	Het
Efcab8	G	A	2: 153,622,888 (GRCm39)	S19N		Het
Eno2	A	T	6: 124,740,091 (GRCm39)	I315K	possibly damaging	Het
Erich3	A	G	3: 154,468,886 (GRCm39)	T1113A	unknown	Het
Fam217a	A	T	13: 35,095,007 (GRCm39)	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,734,938 (GRCm39)	H396Q	probably benign	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Fgd5	A	T	6: 92,046,447 (GRCm39)	K1397*	probably null	Het
Frem1	C	A	4: 82,831,785 (GRCm39)	L2010F	probably benign	Het
Fzd8	A	G	18: 9,214,661 (GRCm39)	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,106,411 (GRCm39)	V549A	possibly damaging	Het
Gcnt4	G	A	13: 97,083,042 (GRCm39)	V113I	probably benign	Het
Gldn	A	G	9: 54,245,747 (GRCm39)	I433V	probably benign	Het
Gm3336	A	G	8: 71,173,069 (GRCm39)	D27G	unknown	Het
Gm6133	T	A	18: 78,393,146 (GRCm39)	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,893,877 (GRCm39)	N62K	probably benign	Het
Gpr18	T	G	14: 122,149,667 (GRCm39)	R119S	probably damaging	Het
Grm5	A	T	7: 87,685,397 (GRCm39)	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,953,428 (GRCm39)	E215G	probably benign	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Lrrc49	A	T	9: 60,495,150 (GRCm39)	C694S	probably benign	Het
Map7d1	A	T	4: 126,133,911 (GRCm39)	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,562,712 (GRCm39)	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,792,751 (GRCm39)	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909 (GRCm39)	N28K	probably null	Het
Muc16	A	T	9: 18,555,975 (GRCm39)	N3439K	unknown	Het
Myef2l	C	A	3: 10,157,341 (GRCm39)	Q495K	unknown	Het
Myo9a	A	T	9: 59,687,584 (GRCm39)	K230*	probably null	Het
Mysm1	T	C	4: 94,835,294 (GRCm39)	T790A	probably benign	Het
Nell2	C	T	15: 95,194,117 (GRCm39)	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,553,482 (GRCm39)	N210I	probably damaging	Het
Or14j7	T	G	17: 38,235,168 (GRCm39)	V237G	probably benign	Het
Or2aj6	A	T	16: 19,443,295 (GRCm39)	L185*	probably null	Het
Or4k41	T	C	2: 111,280,343 (GRCm39)	I286T	probably damaging	Het
Or7g16	G	A	9: 18,727,569 (GRCm39)	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,888,281 (GRCm39)	D90G	probably damaging	Het
Pacs2	A	T	12: 113,026,104 (GRCm39)	I554F	possibly damaging	Het
Padi3	C	A	4: 140,523,004 (GRCm39)	V323L	probably benign	Het
Piezo1	G	A	8: 123,215,090 (GRCm39)	P1484L		Het
Pogk	A	G	1: 166,227,254 (GRCm39)	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,461,928 (GRCm39)	I1164V	probably benign	Het
Raph1	A	G	1: 60,542,124 (GRCm39)	M278T	unknown	Het
Rasa3	T	A	8: 13,645,851 (GRCm39)	Q163L	probably benign	Het
Rbm6	T	A	9: 107,660,911 (GRCm39)	K884I	probably damaging	Het
Rtl1	A	G	12: 109,559,691 (GRCm39)	V716A	probably benign	Het
Sag	A	G	1: 87,749,054 (GRCm39)	K151R	probably damaging	Het
Scara5	G	A	14: 66,000,197 (GRCm39)	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc4a1	A	T	11: 102,243,279 (GRCm39)	V784D	probably damaging	Het
Sstr1	T	C	12: 58,259,569 (GRCm39)	I64T	possibly damaging	Het
Steap1	A	G	5: 5,790,708 (GRCm39)	I80T	probably benign	Het
Tbc1d24	T	A	17: 24,427,491 (GRCm39)	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,249 (GRCm39)	E660G		Het
Trappc3l	A	G	10: 33,932,786 (GRCm39)		probably benign	Het
Tsc22d2	T	C	3: 58,323,497 (GRCm39)	S130P	probably benign	Het
Tti2	T	A	8: 31,645,814 (GRCm39)	I376N	probably damaging	Het
Ttll2	C	A	17: 7,619,054 (GRCm39)	W291L	probably benign	Het
Ttll3	G	A	6: 113,376,657 (GRCm39)	V345I	possibly damaging	Het
Ttn	A	G	2: 76,565,046 (GRCm39)	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201 (GRCm39)	Y684C	probably damaging	Het
Vdr	A	G	15: 97,765,089 (GRCm39)	S217P	probably benign	Het
Xpot	A	G	10: 121,447,580 (GRCm39)	L105P	probably damaging	Het
Zan	A	G	5: 137,464,206 (GRCm39)	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,248,059 (GRCm39)	E404G	probably benign	Het
Zfp106	T	A	2: 120,369,906 (GRCm39)	I62F	probably damaging	Het
Zfp451	A	T	1: 33,815,562 (GRCm39)	F796Y	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTGTAAGCAGTCACGCGGTC -3'
(R):5'- CTGGACATCCATGAATGAGCATC -3'

Sequencing Primer
(F):5'- GTCAGCAATAAACTCCGAGGGTC -3'
(R):5'- CGAAGGTCTGGAGTTCAAATCCC -3'

Posted On

2021-11-19