Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Huwe1'

672846

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

068727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8817 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

150583803-150718413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150669993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1482 (K1482R)

Ref Sequence

ENSEMBL: ENSMUSP00000026292 (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: K1482R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: K1482R

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: K1482R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: K1482R

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

SMART Domains

Protein: ENSMUSP00000120057
Gene: ENSMUSG00000025261
AA Change: K985R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,032,825 (GRCm39)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Pskh1	C	T	8: 106,656,352 (GRCm39)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Recql	G	A	6: 142,304,612 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,435,558 (GRCm39)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,232,470 (GRCm39)	L135P	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	probably benign	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
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'- GAGAAGTTTCAAGATGCTGACC -3'
(R):5'- GTAACTCTGCTTTTACCTTCTGAAG -3'

Sequencing Primer
(F):5'- GAAGTTTCAAGATGCTGACCCCTTG -3'
(R):5'- ACCTTCTGAAGACTATTTTTCGTGTG -3'

Posted On

2021-04-30