Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Hectd2'

391720

Institutional Source

Beutler Lab

Gene Symbol

Hectd2

Ensembl Gene

ENSMUSG00000041180

Gene Name

HECT domain E3 ubiquitin protein ligase 2

Synonyms

A630025O09Rik

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36554639-36621135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36599604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 142 (N142D)

Ref Sequence

ENSEMBL: ENSMUSP00000134964 (fasta)

Gene Model

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

AlphaFold

Q8CDU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000047247
AA Change: N325D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: N325D

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

unknown
Transcript: ENSMUST00000155594
AA Change: N297D

SMART Domains

Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: N297D

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 damaging
Transcript: ENSMUST00000169036
AA Change: N325D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: N325D

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 damaging
Transcript: ENSMUST00000177381
AA Change: N142D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
AA Change: N142D

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

0.5805

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	probably benign	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
R0576:Hectd2	UTSW	19	36585497	missense	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
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'- AAATGGCGAGTAGATAACCATTGCC -3'
(R):5'- CCAGTTATTGCGTTAATTGCATCTG -3'

Sequencing Primer
(F):5'- GAGTAGATAACCATTGCCTCCTTTC -3'
(R):5'- GCGTTAATTGCATCTGTTAGGTAAAC -3'

Posted On

2016-06-06