Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Hectd2'

218488

Institutional Source

Beutler Lab

Gene Symbol

Hectd2

Ensembl Gene

ENSMUSG00000041180

Gene Name

HECT domain E3 ubiquitin protein ligase 2

Synonyms

A630025O09Rik

MMRRC Submission

038870-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0685 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36554639-36621135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36569431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 64 (V64D)

Ref Sequence

ENSEMBL: ENSMUSP00000117273 (fasta)

Gene Model

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

AlphaFold

Q8CDU6

Predicted Effect

probably benign
Transcript: ENSMUST00000047247
AA Change: V64D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: V64D

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 damaging
Transcript: ENSMUST00000139215
AA Change: V64D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117273
Gene: ENSMUSG00000041180
AA Change: V64D

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

noncoding transcript
Transcript: ENSMUST00000155447

Predicted Effect

unknown
Transcript: ENSMUST00000155594
AA Change: V36D

SMART Domains

Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: V36D

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: V64D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: V64D

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

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	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
R0576:Hectd2	UTSW	19	36585497	missense	probably benign
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'- GCGGCTCTCTATGCTTATGCTGAT -3'
(R):5'- TTTGACTACTGTGAGGGTGCAATGAAA -3'

Sequencing Primer
(F):5'- CTCTATGCTTATGCTGATTTGGTC -3'
(R):5'- TGAGGGCATTCCAAACTTCAAAG -3'

Posted On

2014-08-11