Mutagenetix > Incidental Mutation

Incidental Mutation 'R0576:Hectd2'

56250

Institutional Source

Beutler Lab

Gene Symbol

Hectd2

Ensembl Gene

ENSMUSG00000041180

Gene Name

HECT domain E3 ubiquitin protein ligase 2

Synonyms

A630025O09Rik

MMRRC Submission

038766-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0576 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

36554639-36621135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36585497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 3 (N3K)

Ref Sequence

ENSEMBL: ENSMUSP00000134964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]

AlphaFold

Q8CDU6

Predicted Effect

probably benign
Transcript: ENSMUST00000047247
AA Change: N186K

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

SMART Domains

Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: N186K

Domain	Start	End	E-Value	Type
low complexity region	10	36	N/A	INTRINSIC
low complexity region	55	65	N/A	INTRINSIC
low complexity region	109	128	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
HECTc	433	774	1.33e-115	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139215

SMART Domains

Protein: ENSMUSP00000117273
Gene: ENSMUSG00000041180

Domain	Start	End	E-Value	Type
low complexity region	10	36	N/A	INTRINSIC
low complexity region	55	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149629

Predicted Effect

unknown
Transcript: ENSMUST00000155594
AA Change: N158K

SMART Domains

Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: N158K

Domain	Start	End	E-Value	Type
low complexity region	28	38	N/A	INTRINSIC
low complexity region	82	101	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	287	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169036
AA Change: N186K

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

SMART Domains

Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: N186K

Domain	Start	End	E-Value	Type
low complexity region	10	36	N/A	INTRINSIC
low complexity region	55	65	N/A	INTRINSIC
low complexity region	109	128	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	314	327	N/A	INTRINSIC
HECTc	434	775	1.33e-115	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177381
AA Change: N3K

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

SMART Domains

Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
AA Change: N3K

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,713,470	F839L	probably benign	Het
Ccdc77	T	A	6: 120,331,848	L335F	probably benign	Het
Ccr3	T	A	9: 124,029,009	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,797,140	N437S	probably benign	Het
Cfh	A	G	1: 140,136,815	V365A	probably damaging	Het
Copg1	T	A	6: 87,897,963	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,220,185	I497T	possibly damaging	Het
Disp3	G	A	4: 148,241,590	T1237I	possibly damaging	Het
Dnah7a	A	T	1: 53,636,087	F360L	probably benign	Het
Dnhd1	C	T	7: 105,714,045	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,684,068	D1000G	probably damaging	Het
Emsy	A	T	7: 98,593,776	V1052D	probably damaging	Het
Ep400	A	G	5: 110,711,093		probably benign	Het
Fa2h	T	C	8: 111,356,147	H146R	probably damaging	Het
Gad1	G	A	2: 70,594,652	C430Y	probably benign	Het
Gm38394	A	G	1: 133,657,838	F587S	probably benign	Het
Gtse1	T	C	15: 85,869,051	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,198,770	T1073A	probably damaging	Het
Hmcn1	A	T	1: 150,650,017	C3318*	probably null	Het
Lipo2	C	T	19: 33,749,424	S71N	probably benign	Het
Mynn	G	T	3: 30,607,068	D100Y	probably damaging	Het
Myo16	G	A	8: 10,562,318		probably null	Het
Npr2	G	T	4: 43,640,947	K384N	probably benign	Het
Nrde2	A	G	12: 100,132,233	V725A	possibly damaging	Het
Olfr166	A	G	16: 19,487,188	M117V	probably damaging	Het
Olfr748	T	A	14: 50,711,204	S291R	probably damaging	Het
Otud7a	C	T	7: 63,685,518	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,342,357	L182Q	probably benign	Het
Pdss1	A	G	2: 22,915,413		probably null	Het
Ppargc1b	T	A	18: 61,311,441	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,013,559		probably null	Het
Prdm14	A	T	1: 13,125,725	S37R	possibly damaging	Het
Prss45	A	G	9: 110,838,429	T39A	probably benign	Het
Qars	T	C	9: 108,514,962		probably benign	Het
Rxfp2	T	G	5: 150,038,247	H77Q	probably benign	Het
Scd4	A	G	19: 44,341,246	M219V	probably benign	Het
Sec24b	G	T	3: 130,041,336	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,577	V861G	probably benign	Het
Sspo	A	G	6: 48,464,942		probably null	Het
Tas2r129	A	G	6: 132,951,534	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,969,724	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,839,495	N175S	probably benign	Het
Tspyl4	A	G	10: 34,298,522	N337D	probably damaging	Het
Ttn	A	T	2: 76,812,201	L13330H	probably damaging	Het
Usp33	T	A	3: 152,384,119	Y765*	probably null	Het
Vmn2r59	T	A	7: 42,047,105	Y71F	probably benign	Het
Zfhx4	T	C	3: 5,402,101	S2465P	probably damaging	Het

Other mutations in Hectd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Hectd2	APN	19	36584936	missense	probably benign
IGL01024:Hectd2	APN	19	36606393	missense	probably damaging	1.00
IGL01111:Hectd2	APN	19	36597120	missense	probably damaging	1.00
IGL01301:Hectd2	APN	19	36569370	splice site	probably benign
IGL02019:Hectd2	APN	19	36615516	missense	possibly damaging	0.94
IGL02410:Hectd2	APN	19	36595213	nonsense	probably null
IGL02793:Hectd2	APN	19	36587421	missense	probably damaging	0.99
IGL03010:Hectd2	APN	19	36615602	missense	probably benign	0.01
IGL03115:Hectd2	APN	19	36599721	critical splice donor site	probably null
IGL03251:Hectd2	APN	19	36585526	missense	probably damaging	1.00
chopstix1	UTSW	19	36609416	missense	possibly damaging	0.75
Chopstix3	UTSW	19	36615508	nonsense	probably null
R0402:Hectd2	UTSW	19	36601529	critical splice donor site	probably null
R0415:Hectd2	UTSW	19	36584884	unclassified	probably benign
R0685:Hectd2	UTSW	19	36569431	missense	probably damaging	0.99
R1460:Hectd2	UTSW	19	36615508	nonsense	probably null
R1791:Hectd2	UTSW	19	36609416	missense	possibly damaging	0.75
R1895:Hectd2	UTSW	19	36614460	missense	probably damaging	1.00
R1928:Hectd2	UTSW	19	36612319	missense	probably damaging	1.00
R2116:Hectd2	UTSW	19	36614424	missense	probably damaging	0.99
R2520:Hectd2	UTSW	19	36612233	critical splice donor site	probably null
R4693:Hectd2	UTSW	19	36614338	splice site	probably benign
R4858:Hectd2	UTSW	19	36605282	missense	probably damaging	0.98
R4943:Hectd2	UTSW	19	36604247	splice site	probably null
R5031:Hectd2	UTSW	19	36599604	missense	probably damaging	1.00
R5408:Hectd2	UTSW	19	36554896	missense	possibly damaging	0.46
R5621:Hectd2	UTSW	19	36618751	missense	probably damaging	1.00
R5652:Hectd2	UTSW	19	36604320	missense	probably damaging	1.00
R5704:Hectd2	UTSW	19	36598891	missense	possibly damaging	0.93
R5950:Hectd2	UTSW	19	36597239	intron	probably benign
R6414:Hectd2	UTSW	19	36618786	missense	probably benign	0.21
R6438:Hectd2	UTSW	19	36618842	makesense	probably null
R6544:Hectd2	UTSW	19	36612328	missense	probably damaging	1.00
R6545:Hectd2	UTSW	19	36587378	missense	probably benign	0.35
R6629:Hectd2	UTSW	19	36615538	missense	probably damaging	1.00
R6672:Hectd2	UTSW	19	36587380	missense	probably damaging	1.00
R6741:Hectd2	UTSW	19	36612359	missense	probably damaging	1.00
R7117:Hectd2	UTSW	19	36599655	missense	probably benign	0.29
R7238:Hectd2	UTSW	19	36597078	missense	probably damaging	0.98
R7555:Hectd2	UTSW	19	36612403	missense	probably damaging	1.00
R8184:Hectd2	UTSW	19	36604354	missense	possibly damaging	0.83
R9069:Hectd2	UTSW	19	36585462	missense	probably benign	0.00
R9149:Hectd2	UTSW	19	36599002	missense	probably damaging	0.99
R9418:Hectd2	UTSW	19	36612174	missense	probably benign	0.01
R9514:Hectd2	UTSW	19	36605289	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GCCACAGGGAATTGGAAGACAGTACA -3'
(R):5'- ACTCAGGTCACCTAAGTAAAGCAGGTT -3'

Sequencing Primer
(F):5'- GAGACTCCATTTTATAGTCAGTAGTG -3'
(R):5'- accacacactgcctatcac -3'

Posted On

2013-07-11