Mutagenetix > Incidental Mutation

Incidental Mutation 'R9027:Huwe1'

686841

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

068856-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9027 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

150583803-150718413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150716084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 4331 (R4331Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026292 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026292
AA Change: R4331Q

SMART Domains

Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: R4331Q

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

unknown
Transcript: ENSMUST00000112622
AA Change: R4330Q

SMART Domains

Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: R4330Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	C	A	5: 121,640,788 (GRCm39)	E86*	probably null	Het
Ahnak	T	G	19: 8,984,617 (GRCm39)	I1967S	possibly damaging	Het
Alox12e	A	G	11: 70,212,600 (GRCm39)	V83A	possibly damaging	Het
Arhgap20	A	T	9: 51,754,977 (GRCm39)	R439S	probably damaging	Het
Arl1	A	G	10: 88,569,458 (GRCm39)	I20V	probably damaging	Het
Atad2	T	C	15: 57,995,628 (GRCm39)	D93G	probably benign	Het
Btbd7	T	G	12: 102,804,838 (GRCm39)	K67N	probably damaging	Het
C130050O18Rik	A	G	5: 139,400,301 (GRCm39)	N118S	probably benign	Het
Ccz1	A	C	5: 143,946,120 (GRCm39)		probably benign	Het
Cdk19	A	G	10: 40,355,728 (GRCm39)	S479G	unknown	Het
Chrd	A	G	16: 20,555,737 (GRCm39)	T503A	probably damaging	Het
Clca4b	G	A	3: 144,617,827 (GRCm39)	R759*	probably null	Het
Cpa5	G	T	6: 30,612,604 (GRCm39)	M1I	probably null	Het
Cr2	A	T	1: 194,834,029 (GRCm39)	I920N	probably benign	Het
Crmp1	C	A	5: 37,437,947 (GRCm39)	Y430*	probably null	Het
Dars1	A	T	1: 128,296,163 (GRCm39)	V390D	possibly damaging	Het
Dmtn	A	G	14: 70,853,555 (GRCm39)	S85P	probably damaging	Het
Ermardl1	A	G	17: 15,242,364 (GRCm39)	E416G	unknown	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Gabrg3	T	A	7: 56,423,122 (GRCm39)	Y192F	possibly damaging	Het
Gpr3	A	T	4: 132,938,209 (GRCm39)	Y154*	probably null	Het
Ints5	C	A	19: 8,873,322 (GRCm39)	P427Q	possibly damaging	Het
Jhy	A	T	9: 40,828,823 (GRCm39)	V361D	probably benign	Het
Klhl33	G	A	14: 51,130,322 (GRCm39)	Q131*	probably null	Het
Lama2	A	T	10: 27,080,881 (GRCm39)	C981S	probably damaging	Het
Mks1	C	A	11: 87,748,041 (GRCm39)	L225I	probably damaging	Het
Ms4a20	A	T	19: 11,083,055 (GRCm39)	Y122N	probably damaging	Het
Nfasc	T	A	1: 132,539,343 (GRCm39)	S402C	probably damaging	Het
Or2a57	T	C	6: 43,213,358 (GRCm39)	I272T	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,517 (GRCm39)	Y218F	unknown	Het
Or51g2	T	C	7: 102,622,560 (GRCm39)	D213G	probably damaging	Het
Pbx4	T	A	8: 70,316,999 (GRCm39)	D85E	possibly damaging	Het
Plcd1	T	C	9: 118,913,709 (GRCm39)	T50A	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Psen2	C	A	1: 180,056,972 (GRCm39)	E351*	probably null	Het
Rragd	G	A	4: 32,996,083 (GRCm39)	V143I	probably damaging	Het
Rsph14	A	T	10: 74,795,423 (GRCm39)	M254K	probably damaging	Het
Selenoi	C	T	5: 30,437,607 (GRCm39)		probably benign	Het
Six6	T	C	12: 72,986,935 (GRCm39)	S36P		Het
Slc12a8	T	C	16: 33,445,215 (GRCm39)	S370P	probably benign	Het
Slc25a46	A	G	18: 31,716,432 (GRCm39)	Y357H	probably benign	Het
Socs2	A	T	10: 95,248,948 (GRCm39)	V55D	probably damaging	Het
Socs6	T	C	18: 88,888,852 (GRCm39)	E21G	probably benign	Het
Spata31e4	C	T	13: 50,857,007 (GRCm39)	Q882*	probably null	Het
Speg	A	T	1: 75,365,076 (GRCm39)	T486S	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,165,473 (GRCm39)	K82E	probably damaging	Het
Sugt1	A	G	14: 79,825,155 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,384,440 (GRCm39)	Y1074C	probably damaging	Het
Sytl2	A	G	7: 90,028,748 (GRCm39)	T476A	probably benign	Het
Tbc1d1	T	C	5: 64,414,349 (GRCm39)	S237P	probably benign	Het
Tbc1d5	C	A	17: 51,063,692 (GRCm39)	M629I	probably damaging	Het
Tlr11	G	A	14: 50,598,749 (GRCm39)	G245D	probably damaging	Het
Tspan4	T	C	7: 141,069,577 (GRCm39)	V59A	probably benign	Het
Tulp4	T	A	17: 6,283,472 (GRCm39)	V1167E	possibly damaging	Het
Usp42	G	A	5: 143,708,906 (GRCm39)	T204M	probably damaging	Het
Vapb	A	G	2: 173,617,948 (GRCm39)	K147R	possibly damaging	Het
Vmn1r228	T	C	17: 20,997,422 (GRCm39)	D32G	probably benign	Het
Vmn2r33	A	G	7: 7,554,168 (GRCm39)	F795S	probably damaging	Het
Vmn2r34	A	T	7: 7,675,527 (GRCm39)	N620K	probably damaging	Het
Vwf	G	T	6: 125,643,626 (GRCm39)	C2389F		Het
Wdr81	T	C	11: 75,332,908 (GRCm39)	E652G		Het
Wdr81	A	T	11: 75,343,207 (GRCm39)	S687T	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	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
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
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'- TCTGGAGCTGATGTTCTCACC -3'
(R):5'- AGCCATCACTCTTGTGTTTAGC -3'

Sequencing Primer
(F):5'- GATGTTCTCACCTATCCTGTGAAGG -3'
(R):5'- TTCCTCCATAGACCTAACAAACTGAG -3'

Posted On

2021-11-19