Mutagenetix > Incidental Mutation

Incidental Mutation 'R5408:Hectd2'

426426

Institutional Source

Beutler Lab

Gene Symbol

Hectd2

Ensembl Gene

ENSMUSG00000041180

Gene Name

HECT domain E3 ubiquitin protein ligase 2

Synonyms

A630025O09Rik

MMRRC Submission

042977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5408 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

36532039-36598535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36532296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

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: V38A

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

SMART Domains

Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: V38A

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

possibly damaging
Transcript: ENSMUST00000139215
AA Change: V38A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117273
Gene: ENSMUSG00000041180
AA Change: V38A

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: V10A

SMART Domains

Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: V10A

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: V38A

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

SMART Domains

Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: V38A

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

0.0854

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,054,979 (GRCm39)		noncoding transcript	Het
Actn2	T	C	13: 12,285,681 (GRCm39)	I837V	probably benign	Het
Adora1	T	A	1: 134,130,901 (GRCm39)	T257S	probably benign	Het
Akap9	T	A	5: 4,108,458 (GRCm39)	M2954K	possibly damaging	Het
Akr1c13	G	T	13: 4,244,715 (GRCm39)	A98S	probably benign	Het
Aldh2	C	T	5: 121,708,620 (GRCm39)		probably benign	Het
Ank1	A	G	8: 23,572,209 (GRCm39)	N48D	probably damaging	Het
Ash1l	A	G	3: 88,889,701 (GRCm39)	T527A	probably damaging	Het
Atp13a1	T	C	8: 70,249,490 (GRCm39)	V251A	probably benign	Het
Baz1a	A	T	12: 54,969,835 (GRCm39)	D608E	probably damaging	Het
Bend5	A	T	4: 111,311,280 (GRCm39)		probably null	Het
Blm	T	G	7: 80,152,370 (GRCm39)	T526P	probably benign	Het
Cacna1a	T	C	8: 85,276,336 (GRCm39)	V559A	probably damaging	Het
Cacna2d4	A	G	6: 119,325,752 (GRCm39)	D1042G	probably damaging	Het
Cadps	T	C	14: 12,705,759 (GRCm38)	H212R	possibly damaging	Het
Cdh3	T	C	8: 107,263,269 (GRCm39)	I106T	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Cfap68	T	C	9: 50,676,057 (GRCm39)	N87S	probably damaging	Het
Col16a1	A	T	4: 129,986,898 (GRCm39)		probably benign	Het
Dctn6	C	T	8: 34,562,056 (GRCm39)	V89I	possibly damaging	Het
Dgkz	C	A	2: 91,766,168 (GRCm39)	G798W	possibly damaging	Het
Epb41l2	A	T	10: 25,343,992 (GRCm39)		probably null	Het
Fam171a2	T	C	11: 102,328,344 (GRCm39)	K805R	possibly damaging	Het
Fam89b	G	T	19: 5,779,421 (GRCm39)	Y45*	probably null	Het
Fchsd2	A	G	7: 100,920,781 (GRCm39)	N462S	possibly damaging	Het
Fyco1	T	G	9: 123,658,568 (GRCm39)	H536P	probably damaging	Het
Galnt12	A	T	4: 47,104,169 (GRCm39)	E142D	probably damaging	Het
Gspt1	C	T	16: 11,071,719 (GRCm39)	G48D	probably benign	Het
H6pd	A	G	4: 150,067,322 (GRCm39)	S355P	probably damaging	Het
Jup	C	T	11: 100,267,607 (GRCm39)	R572Q	probably damaging	Het
Kcng3	T	C	17: 83,938,434 (GRCm39)	D205G	probably benign	Het
Kif13b	A	T	14: 65,017,138 (GRCm39)		probably null	Het
Mapk3	A	G	7: 126,363,007 (GRCm39)	D253G	probably damaging	Het
Methig1	A	T	15: 100,281,635 (GRCm39)	Y253F	possibly damaging	Het
Mmp3	T	C	9: 7,449,904 (GRCm39)	S263P	probably damaging	Het
Mpo	T	A	11: 87,691,851 (GRCm39)		probably null	Het
Nbeal2	C	A	9: 110,466,588 (GRCm39)	G772W	possibly damaging	Het
Nr1d1	T	A	11: 98,661,087 (GRCm39)	H393L	probably benign	Het
Obscn	A	G	11: 58,942,437 (GRCm39)	V4915A	probably damaging	Het
Olfml2b	T	A	1: 170,472,545 (GRCm39)	W19R	probably damaging	Het
Or13p4	T	C	4: 118,547,641 (GRCm39)	T3A	probably benign	Het
Or56b1b	C	T	7: 108,164,376 (GRCm39)	A209T	probably damaging	Het
Padi6	G	A	4: 140,454,996 (GRCm39)	T647I	probably damaging	Het
Pcyox1	A	G	6: 86,369,280 (GRCm39)	L113S	probably damaging	Het
Pde4dip	T	A	3: 97,704,052 (GRCm39)	T192S	probably benign	Het
Pip4k2a	T	C	2: 18,911,119 (GRCm39)	H87R	probably benign	Het
Pkd1l3	C	A	8: 110,393,684 (GRCm39)	T2004N	probably damaging	Het
Prex1	CGTTGTTGTTGT	CGTTGTTGTTGTTGT	2: 166,417,573 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,002,599 (GRCm39)	T1563I	probably damaging	Het
Reg3b	T	C	6: 78,350,215 (GRCm39)	V165A	probably benign	Het
Rreb1	A	G	13: 38,115,320 (GRCm39)	D893G	probably benign	Het
Sap18	A	T	14: 58,039,431 (GRCm39)	M78L	probably benign	Het
Scaper	A	T	9: 55,493,508 (GRCm39)	F1226I	probably damaging	Het
Scyl3	A	T	1: 163,782,245 (GRCm39)		probably null	Het
Shoc2	A	G	19: 53,976,556 (GRCm39)	M149V	probably benign	Het
Slc7a2	G	A	8: 41,368,042 (GRCm39)	R602K	probably damaging	Het
Sox30	A	G	11: 45,882,694 (GRCm39)	I575V	possibly damaging	Het
Trim14	A	T	4: 46,507,134 (GRCm39)	C361S	possibly damaging	Het
Ttn	T	C	2: 76,731,272 (GRCm39)		probably benign	Het
Uncx	A	T	5: 139,530,245 (GRCm39)	K108*	probably null	Het
Usp54	A	T	14: 20,600,501 (GRCm39)	L1412Q	probably damaging	Het
Uty	A	G	Y: 1,245,614 (GRCm39)	V6A	possibly damaging	Het
Vmn1r30	C	T	6: 58,412,029 (GRCm39)	V268I	probably benign	Het
Wdsub1	T	C	2: 59,691,887 (GRCm39)		probably benign	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Xcr1	T	A	9: 123,685,631 (GRCm39)	I44F	probably benign	Het
Zfp687	T	C	3: 94,916,586 (GRCm39)		probably benign	Het
Zfp729b	A	T	13: 67,739,563 (GRCm39)	S901T	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zswim9	T	C	7: 12,994,753 (GRCm39)	K468E	possibly damaging	Het

Other mutations in Hectd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Hectd2	APN	19	36,562,336 (GRCm39)	missense	probably benign
IGL01024:Hectd2	APN	19	36,583,793 (GRCm39)	missense	probably damaging	1.00
IGL01111:Hectd2	APN	19	36,574,520 (GRCm39)	missense	probably damaging	1.00
IGL01301:Hectd2	APN	19	36,546,770 (GRCm39)	splice site	probably benign
IGL02019:Hectd2	APN	19	36,592,916 (GRCm39)	missense	possibly damaging	0.94
IGL02410:Hectd2	APN	19	36,572,613 (GRCm39)	nonsense	probably null
IGL02793:Hectd2	APN	19	36,564,821 (GRCm39)	missense	probably damaging	0.99
IGL03010:Hectd2	APN	19	36,593,002 (GRCm39)	missense	probably benign	0.01
IGL03115:Hectd2	APN	19	36,577,121 (GRCm39)	critical splice donor site	probably null
IGL03251:Hectd2	APN	19	36,562,926 (GRCm39)	missense	probably damaging	1.00
chopstix1	UTSW	19	36,586,816 (GRCm39)	missense	possibly damaging	0.75
Chopstix3	UTSW	19	36,592,908 (GRCm39)	nonsense	probably null
R0402:Hectd2	UTSW	19	36,578,929 (GRCm39)	critical splice donor site	probably null
R0415:Hectd2	UTSW	19	36,562,284 (GRCm39)	unclassified	probably benign
R0576:Hectd2	UTSW	19	36,562,897 (GRCm39)	missense	probably benign
R0685:Hectd2	UTSW	19	36,546,831 (GRCm39)	missense	probably damaging	0.99
R1460:Hectd2	UTSW	19	36,592,908 (GRCm39)	nonsense	probably null
R1791:Hectd2	UTSW	19	36,586,816 (GRCm39)	missense	possibly damaging	0.75
R1895:Hectd2	UTSW	19	36,591,860 (GRCm39)	missense	probably damaging	1.00
R1928:Hectd2	UTSW	19	36,589,719 (GRCm39)	missense	probably damaging	1.00
R2116:Hectd2	UTSW	19	36,591,824 (GRCm39)	missense	probably damaging	0.99
R2520:Hectd2	UTSW	19	36,589,633 (GRCm39)	critical splice donor site	probably null
R4693:Hectd2	UTSW	19	36,591,738 (GRCm39)	splice site	probably benign
R4858:Hectd2	UTSW	19	36,582,682 (GRCm39)	missense	probably damaging	0.98
R4943:Hectd2	UTSW	19	36,581,647 (GRCm39)	splice site	probably null
R5031:Hectd2	UTSW	19	36,577,004 (GRCm39)	missense	probably damaging	1.00
R5621:Hectd2	UTSW	19	36,596,151 (GRCm39)	missense	probably damaging	1.00
R5652:Hectd2	UTSW	19	36,581,720 (GRCm39)	missense	probably damaging	1.00
R5704:Hectd2	UTSW	19	36,576,291 (GRCm39)	missense	possibly damaging	0.93
R5950:Hectd2	UTSW	19	36,574,639 (GRCm39)	intron	probably benign
R6414:Hectd2	UTSW	19	36,596,186 (GRCm39)	missense	probably benign	0.21
R6438:Hectd2	UTSW	19	36,596,242 (GRCm39)	makesense	probably null
R6544:Hectd2	UTSW	19	36,589,728 (GRCm39)	missense	probably damaging	1.00
R6545:Hectd2	UTSW	19	36,564,778 (GRCm39)	missense	probably benign	0.35
R6629:Hectd2	UTSW	19	36,592,938 (GRCm39)	missense	probably damaging	1.00
R6672:Hectd2	UTSW	19	36,564,780 (GRCm39)	missense	probably damaging	1.00
R6741:Hectd2	UTSW	19	36,589,759 (GRCm39)	missense	probably damaging	1.00
R7117:Hectd2	UTSW	19	36,577,055 (GRCm39)	missense	probably benign	0.29
R7238:Hectd2	UTSW	19	36,574,478 (GRCm39)	missense	probably damaging	0.98
R7555:Hectd2	UTSW	19	36,589,803 (GRCm39)	missense	probably damaging	1.00
R8184:Hectd2	UTSW	19	36,581,754 (GRCm39)	missense	possibly damaging	0.83
R9069:Hectd2	UTSW	19	36,562,862 (GRCm39)	missense	probably benign	0.00
R9149:Hectd2	UTSW	19	36,576,402 (GRCm39)	missense	probably damaging	0.99
R9418:Hectd2	UTSW	19	36,589,574 (GRCm39)	missense	probably benign	0.01
R9514:Hectd2	UTSW	19	36,582,689 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GAATCCGTGTCACAGCCTTTAC -3'
(R):5'- ATCCAACAGAGGATGCCGAC -3'

Sequencing Primer
(F):5'- TTGGAAGGAGCCCTCTCG -3'
(R):5'- GACCCTCAGCAGAAAGTCGG -3'

Posted On

2016-09-01