Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Huwe1'

3084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Huwe1

Ensembl Gene

ENSMUSG00000025261

Gene Name

HECT, UBA and WWE domain containing 1

Synonyms

Arf-bp1, Mule, Ureb1, LOC382250, 5430439H10Rik, Ib772, C430014N20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

150583803-150718413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 150668623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 843 (L843V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026292] [ENSMUST00000112622]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026292
AA Change: L1340V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: L1340V

Domain	Start	End	E-Value	Type
Pfam:DUF908	90	369	4.2e-38	PFAM
Pfam:DUF913	430	814	6.1e-121	PFAM
low complexity region	841	858	N/A	INTRINSIC
low complexity region	887	901	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
low complexity region	1083	1104	N/A	INTRINSIC
low complexity region	1292	1314	N/A	INTRINSIC
UBA	1318	1354	1.3e-4	SMART
low complexity region	1397	1424	N/A	INTRINSIC
low complexity region	1526	1542	N/A	INTRINSIC
Pfam:WWE	1614	1679	3.5e-16	PFAM
low complexity region	1699	1710	N/A	INTRINSIC
low complexity region	1841	1864	N/A	INTRINSIC
low complexity region	2021	2036	N/A	INTRINSIC
low complexity region	2053	2064	N/A	INTRINSIC
low complexity region	2131	2143	N/A	INTRINSIC
low complexity region	2262	2272	N/A	INTRINSIC
low complexity region	2276	2293	N/A	INTRINSIC
low complexity region	2348	2358	N/A	INTRINSIC
low complexity region	2409	2471	N/A	INTRINSIC
low complexity region	2527	2543	N/A	INTRINSIC
low complexity region	2591	2601	N/A	INTRINSIC
low complexity region	2679	2702	N/A	INTRINSIC
low complexity region	2739	2759	N/A	INTRINSIC
low complexity region	2766	2781	N/A	INTRINSIC
low complexity region	2914	2933	N/A	INTRINSIC
low complexity region	2945	2960	N/A	INTRINSIC
Pfam:DUF4414	2969	3080	1.3e-32	PFAM
low complexity region	3091	3108	N/A	INTRINSIC
low complexity region	3173	3182	N/A	INTRINSIC
low complexity region	3224	3239	N/A	INTRINSIC
low complexity region	3254	3264	N/A	INTRINSIC
low complexity region	3370	3384	N/A	INTRINSIC
low complexity region	3446	3461	N/A	INTRINSIC
low complexity region	3476	3553	N/A	INTRINSIC
low complexity region	3750	3762	N/A	INTRINSIC
coiled coil region	3763	3787	N/A	INTRINSIC
low complexity region	3838	3860	N/A	INTRINSIC
low complexity region	3919	3935	N/A	INTRINSIC
HECTc	4040	4378	2.28e-196	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112622
AA Change: L1340V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: L1340V

Domain	Start	End	E-Value	Type
Pfam:DUF908	89	370	1.8e-74	PFAM
Pfam:DUF913	429	815	1.2e-126	PFAM
low complexity region	841	858	N/A	INTRINSIC
low complexity region	887	901	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
low complexity region	1083	1104	N/A	INTRINSIC
low complexity region	1292	1314	N/A	INTRINSIC
UBA	1318	1354	1.3e-4	SMART
low complexity region	1397	1424	N/A	INTRINSIC
low complexity region	1526	1542	N/A	INTRINSIC
Pfam:WWE	1611	1679	3.5e-14	PFAM
low complexity region	1699	1710	N/A	INTRINSIC
low complexity region	1841	1864	N/A	INTRINSIC
low complexity region	2052	2063	N/A	INTRINSIC
low complexity region	2130	2142	N/A	INTRINSIC
low complexity region	2261	2271	N/A	INTRINSIC
low complexity region	2275	2292	N/A	INTRINSIC
low complexity region	2347	2357	N/A	INTRINSIC
low complexity region	2408	2470	N/A	INTRINSIC
low complexity region	2526	2542	N/A	INTRINSIC
low complexity region	2590	2600	N/A	INTRINSIC
low complexity region	2678	2701	N/A	INTRINSIC
low complexity region	2738	2758	N/A	INTRINSIC
low complexity region	2765	2780	N/A	INTRINSIC
low complexity region	2913	2932	N/A	INTRINSIC
low complexity region	2944	2959	N/A	INTRINSIC
Pfam:DUF4414	2968	3079	1.1e-34	PFAM
low complexity region	3090	3107	N/A	INTRINSIC
low complexity region	3172	3181	N/A	INTRINSIC
low complexity region	3223	3238	N/A	INTRINSIC
low complexity region	3253	3263	N/A	INTRINSIC
low complexity region	3369	3383	N/A	INTRINSIC
low complexity region	3445	3460	N/A	INTRINSIC
low complexity region	3475	3552	N/A	INTRINSIC
low complexity region	3749	3761	N/A	INTRINSIC
coiled coil region	3762	3786	N/A	INTRINSIC
low complexity region	3837	3859	N/A	INTRINSIC
low complexity region	3918	3934	N/A	INTRINSIC
HECTc	4039	4377	2.28e-196	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000138023
AA Change: L843V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120057
Gene: ENSMUSG00000025261
AA Change: L843V

Domain	Start	End	E-Value	Type
Pfam:DUF913	2	318	7.3e-110	PFAM
low complexity region	345	362	N/A	INTRINSIC
low complexity region	391	405	N/A	INTRINSIC
low complexity region	556	570	N/A	INTRINSIC
low complexity region	587	608	N/A	INTRINSIC
low complexity region	796	818	N/A	INTRINSIC
UBA	822	858	1.3e-4	SMART
low complexity region	901	928	N/A	INTRINSIC
low complexity region	1030	1046	N/A	INTRINSIC
Pfam:WWE	1118	1176	7.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150882

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 94,075,787 (GRCm39)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,160,400 (GRCm39)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,994,620 (GRCm39)	T264A	probably benign	Het
Clcn6	C	A	4: 148,102,359 (GRCm39)		probably null	Het
Cyb5r3	C	A	15: 83,044,605 (GRCm39)	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,307,834 (GRCm39)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,113,559 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,821,566 (GRCm39)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,595,488 (GRCm39)	D436G	probably damaging	Het
Drd4	A	G	7: 140,872,096 (GRCm39)	N49S	probably damaging	Het
Dst	T	A	1: 34,205,373 (GRCm39)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,080,800 (GRCm39)	S714P	probably damaging	Het
Glis3	A	G	19: 28,517,664 (GRCm39)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,806,021 (GRCm39)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,924,588 (GRCm39)		probably benign	Het
Hdx	T	A	X: 110,492,578 (GRCm39)	I623F	probably benign	Het
Hyal2	T	C	9: 107,447,604 (GRCm39)	Y86H	probably damaging	Het
Irf7	A	T	7: 140,844,553 (GRCm39)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,346,140 (GRCm39)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,406,926 (GRCm39)	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,356,138 (GRCm39)	Y103*	probably null	Het
Map2k3	T	C	11: 60,834,041 (GRCm39)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,219,629 (GRCm39)	R442*	probably null	Het
Mprip	T	A	11: 59,639,417 (GRCm39)	D403E	probably benign	Het
Mutyh	T	A	4: 116,676,516 (GRCm39)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,321,042 (GRCm39)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,367,262 (GRCm39)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,785,158 (GRCm39)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,604,311 (GRCm39)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,467,277 (GRCm39)	I66N	probably damaging	Het
Pck2	T	C	14: 55,780,098 (GRCm39)	Y89H	probably benign	Het
Poglut3	T	A	9: 53,309,330 (GRCm39)		probably benign	Het
Poglut3	C	A	9: 53,309,328 (GRCm39)		probably benign	Het
Polr3e	C	T	7: 120,540,034 (GRCm39)	Q594*	probably null	Het
Ptpro	T	G	6: 137,371,907 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,615,917 (GRCm39)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,888,774 (GRCm39)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,449,930 (GRCm39)	D122V	probably benign	Het
Smr3a	A	C	5: 88,155,919 (GRCm39)		probably benign	Het
Spmip8	G	A	8: 96,039,676 (GRCm39)	R31H	probably damaging	Het
Taf4	G	T	2: 179,618,418 (GRCm39)	L8M	unknown	Het
Tbkbp1	T	A	11: 97,028,474 (GRCm39)		probably benign	Het
Tmem120b	G	T	5: 123,253,230 (GRCm39)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,253,229 (GRCm39)		probably null	Het
Trim21	C	T	7: 102,208,805 (GRCm39)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,859,439 (GRCm39)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,621,572 (GRCm39)	N274K	probably benign	Het

Other mutations in Huwe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Huwe1	APN	X	150,643,730 (GRCm39)	missense	probably damaging	1.00
IGL00932:Huwe1	APN	X	150,643,157 (GRCm39)	splice site	probably benign
IGL01413:Huwe1	APN	X	150,665,676 (GRCm39)	missense	possibly damaging	0.48
IGL01685:Huwe1	APN	X	150,681,666 (GRCm39)	splice site	probably benign
IGL02120:Huwe1	APN	X	150,690,386 (GRCm39)	missense	possibly damaging	0.53
IGL02176:Huwe1	APN	X	150,686,964 (GRCm39)	missense	possibly damaging	0.47
IGL02868:Huwe1	APN	X	150,691,829 (GRCm39)	missense	possibly damaging	0.91
IGL02902:Huwe1	APN	X	150,669,762 (GRCm39)	missense	probably damaging	0.98
IGL02971:Huwe1	APN	X	150,710,622 (GRCm39)	splice site	probably benign
R0650:Huwe1	UTSW	X	150,659,309 (GRCm39)	missense	probably damaging	1.00
R0651:Huwe1	UTSW	X	150,659,309 (GRCm39)	missense	probably damaging	1.00
R0657:Huwe1	UTSW	X	150,702,924 (GRCm39)	missense	probably benign	0.33
R1241:Huwe1	UTSW	X	150,690,044 (GRCm39)	small deletion	probably benign
R1247:Huwe1	UTSW	X	150,684,566 (GRCm39)	missense	probably benign	0.03
R1791:Huwe1	UTSW	X	150,647,749 (GRCm39)	missense	probably benign	0.06
R4296:Huwe1	UTSW	X	150,671,444 (GRCm39)	missense	probably benign	0.20
R4561:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R4562:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R4563:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R5339:Huwe1	UTSW	X	150,690,044 (GRCm39)	small deletion	probably benign
R8817:Huwe1	UTSW	X	150,669,993 (GRCm39)	missense	probably benign	0.03
R8819:Huwe1	UTSW	X	150,669,993 (GRCm39)	missense	probably benign	0.03
R9026:Huwe1	UTSW	X	150,716,084 (GRCm39)	missense	unknown
R9027:Huwe1	UTSW	X	150,716,084 (GRCm39)	missense	unknown
Z1176:Huwe1	UTSW	X	150,711,377 (GRCm39)	missense	unknown
Z1176:Huwe1	UTSW	X	150,639,571 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20