Mutagenetix > Incidental Mutation

Incidental Mutation 'R1247:Huwe1'

152174

Institutional Source

Beutler Lab

Gene Symbol

Huwe1

Ensembl Gene

ENSMUSG00000025261

Gene Name

HECT, UBA and WWE domain containing 1

Synonyms

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

MMRRC Submission

039314-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1247 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

150583803-150718413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 150684566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2199 (S2199T)

Ref Sequence

ENSEMBL: ENSMUSP00000108241 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026292
AA Change: S2200T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: S2200T

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

probably benign
Transcript: ENSMUST00000112622
AA Change: S2199T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: S2199T

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

noncoding transcript
Transcript: ENSMUST00000150426

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.5%

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Brca2	C	A	5: 150,464,739 (GRCm39)	A1501D	probably damaging	Het
Ctbp2	G	C	7: 132,596,918 (GRCm39)	R722G	probably benign	Het
Cyp3a44	A	G	5: 145,728,477 (GRCm39)	F249S	probably damaging	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Samd4	AGG	AG	14: 47,301,785 (GRCm39)		probably benign	Het
Samd4	G	GAAA	14: 47,325,215 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sox15	T	C	11: 69,547,320 (GRCm39)	F190S	probably benign	Het
Syne2	G	A	12: 76,014,264 (GRCm39)	A3153T	probably benign	Het
Tbr1	C	T	2: 61,641,962 (GRCm39)	P409L	possibly damaging	Het

Other mutations in Huwe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Huwe1	APN	X	150,668,623 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTAAAAGCCCATGTCTGGCCTAGT -3'
(R):5'- GGCTAAATTACACTGCAAGGCAGC -3'

Sequencing Primer
(F):5'- GAACAAGAGTTGTGTTCACACC -3'
(R):5'- TGTAGAAAAGCAGTCATCATTTCAG -3'

Posted On

2014-01-29